| Ciliary Dyskinesia, Primary, 7 |
|
Dextrocardia, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Decreased nasal nitric... |
OMIM:611884 |
| Ciliary Dyskinesia, Primary, 40 |
|
Left Isomerism, Reduced forced expiratory volume in one second, Situs inversus totalis, Reduced r... |
OMIM:618300 |
| Ciliary Dyskinesia, Primary, 39 |
|
Dextrocardia, Decreased nasal nitric oxide, Bronchiectasis, Cough, Double outlet right ventricle,... |
OMIM:618254 |
| Ciliary Dyskinesia, Primary, 3 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:608644 |
| Ciliary Dyskinesia, Primary, 23 |
|
Neonatal respiratory distress, Productive cough, Situs inversus totalis, Recurrent pneumonia, Bro... |
OMIM:615451 |
| Ciliary Dyskinesia, Primary, 24 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:615481 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Micrognathia, Phocomelia, Clinodactyly of the 5th finger, Genu varum, Finger syndactyly, Fused ce... |
ORPHA:3320 |
| Ciliary Dyskinesia, Primary, 16 |
|
Situs inversus totalis, Bronchiectasis, Abnormal ciliary motility, Chronic rhinitis, Ciliary dysk... |
OMIM:614017 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 17 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia... |
OMIM:614679 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Abnormal thorax morphology, Cleft palate, Upper limb phocomelia, Abnormal heart morph... |
ORPHA:294975 |
| Ciliary Dyskinesia, Primary, 27 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615504 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Ciliary Dyskinesia, Primary, 38 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Bronchiect... |
OMIM:618063 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Left atrial isomerism, Abdom... |
OMIM:605376 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Ciliary Dyskinesia, Primary, 30 |
|
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Asthma, Bronchiectasis, Respirat... |
OMIM:616037 |
| Ciliary Dyskinesia, Primary, 28 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615505 |
| Ciliary Dyskinesia, Primary, 18 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Immotile cil... |
OMIM:614874 |
| Ciliary Dyskinesia, Primary, 32 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:616481 |
| Ciliary Dyskinesia, Primary, 25 |
|
Neonatal respiratory distress, Dextrocardia, Productive cough, Situs inversus totalis, Chronic pu... |
OMIM:615482 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Ciliary Dyskinesia, Primary, 26 |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:615500 |
| Ciliary Dyskinesia, Primary, 13 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Recurrent sinusitis, Ciliary dyskinesia |
OMIM:613193 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... |
OMIM:208530 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Esophagea... |
OMIM:314390 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b... |
OMIM:274000 |
| Ciliary Dyskinesia, Primary, 10 |
|
Situs inversus totalis, Ciliary dyskinesia, Chronic sinusitis, Recurrent sinusitis |
OMIM:612518 |
| Ciliary Dyskinesia, Primary, 9 |
|
Neonatal respiratory distress, Pneumonia, Situs inversus totalis, Bronchiectasis, Decreased nasal... |
OMIM:612444 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Ciliary Dyskinesia, Primary, 14 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613807 |
| Ciliary Dyskinesia, Primary, 22 |
|
Neonatal respiratory distress, Dextrocardia, Situs inversus totalis, Bronchiectasis, Decreased na... |
OMIM:615444 |
| Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Dextrocardia, Situs inversus totalis, Bronchiectasis, Immotile c... |
OMIM:606763 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... |
OMIM:619702 |
| Fibular Hemimelia |
|
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... |
ORPHA:93323 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Syndactyly, Truncus arteriosus |
OMIM:215850 |
| Ciliary Dyskinesia, Primary, 12 |
|
Neonatal respiratory distress, Situs inversus totalis, Chronic pulmonary obstruction, Decreased n... |
OMIM:612650 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Recombinant 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Pectus ex... |
ORPHA:96167 |
| Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a... |
ORPHA:1834 |
| Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Preaxial polydactyly, Glossoptosis, Narrow chest, Short palm, Abnormal vertebral se... |
ORPHA:90652 |
| Ciliary Dyskinesia, Primary, 19 |
|
Situs inversus totalis, Bronchiectasis, Immotile cilia, Rhinitis, Respiratory insufficiency due t... |
OMIM:614935 |
| Czeizel-Losonci Syndrome |
|
Single transverse palmar crease, Micrognathia, High palate, Spina bifida occulta, Posterolateral ... |
ORPHA:2437 |
| Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
| Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Chronic cough, Recurrent si... |
OMIM:620197 |
| Atrial Septal Defect 2 |
|
Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept... |
OMIM:607941 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
| Nail-Patella Syndrome |
|
Back pain, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Patellar hy... |
ORPHA:2614 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Osteopathia Striata With Cranial Sclerosis |
|
Micrognathia, Osteopathia striata, High palate, Gastroesophageal reflux, Atrial septal defect, Cl... |
OMIM:300373 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Short neck, Micrognathia, ... |
ORPHA:2516 |
| Vacterl/Vater Association |
|
Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Ec... |
ORPHA:887 |
| Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Respi... |
OMIM:608647 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Dextrocardia, Situs inversus totalis, Decreased nasal nitric oxide, Abdominal situs inversus, Cou... |
OMIM:619607 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Abnormal lung lobation, Cle... |
ORPHA:2631 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Gastroesophageal reflux, Atrial septal defect, Pulmonary artery atresia, ... |
OMIM:618316 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Atrial septal defect, Ventricular septal defect, Intestin... |
ORPHA:401935 |
| Lethal Congenital Contracture Syndrome 10 |
|
Omphalocele, Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short... |
OMIM:617022 |
| Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... |
ORPHA:958 |
| Boomerang Dysplasia |
|
Omphalocele, Finger syndactyly, Abnormal morphology of the radius, Abnormally ossified vertebrae,... |
ORPHA:1263 |
| Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Ho... |
OMIM:613630 |
| Fanconi Anemia, Complementation Group B |
|
Ventricular septal defect, Aplastic anemia, Absent thumb, Short neck, Esophageal atresia, Patent ... |
OMIM:300514 |
| Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d... |
ORPHA:2970 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
| Atelosteogenesis, Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, Micrognathia, Lumbar h... |
OMIM:256050 |
| Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Short neck, Micrognathia, High palate, Clinoda... |
OMIM:201000 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Wheezing, Bronchiectasis, Right aortic arch, Chronic rhinit... |
OMIM:617577 |
| Ciliary Dyskinesia, Primary, 15 |
|
Neonatal respiratory distress, Situs inversus totalis, Wheezing, Recurrent pneumonia, Bronchiecta... |
OMIM:613808 |
| Atelosteogenesis, Type I |
|
Short neck, Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Verteb... |
OMIM:108720 |
| Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Dextrocardia, Unilateral brachydactyly, Rib fusion, Short ri... |
OMIM:173800 |
| Adams-Oliver Syndrome 6 |
|
Syndactyly, Ventricular septal defect, Esophageal varix, Renal hypoplasia, Foot oligodactyly, Tru... |
OMIM:616589 |
| Scimitar Syndrome |
|
Abnormal lung morphology, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ventr... |
ORPHA:185 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Productive cough, Situs inversus ... |
OMIM:615067 |
| Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Kyphosis, ... |
ORPHA:1354 |
| Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:620058 |
| Genitopalatocardiac Syndrome |
|
Ventricular septal defect, Hypospadias, Cleft palate, Renal cyst, Right aortic arch, Transpositio... |
OMIM:231060 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Ventricular sept... |
ORPHA:93267 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormality of the spleen, Abnormal finger morphology, Abnormal lung lobation, Gastroesophageal r... |
ORPHA:2538 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Tracheoesophageal fistula, Cleft palate, Atrial septal defect,... |
ORPHA:261272 |
| Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Thickening of the later... |
OMIM:161200 |
| 22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
|
Hypocalcemia, Abnormal heart morphology |
DECIPHER:16 |
| Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Apl... |
ORPHA:2141 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Micrognathia, High palate, Gastroeso... |
OMIM:609029 |
| Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulat... |
OMIM:220210 |
| Total Anomalous Pulmonary Venous Return 1 |
|
Pulmonary arterial hypertension, Total anomalous pulmonary venous return, Dextrocardia |
OMIM:106700 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Abnormal lung lobation, Po... |
OMIM:265380 |
| You-Hoover-Fong Syndrome |
|
Pectus excavatum, Cleft palate, Vascular ring, Coarctation of aorta, Clinodactyly, Double aortic ... |
OMIM:616954 |
| Cousin Syndrome |
|
Short neck, Micrognathia, Prominent protruding coccyx, Hypoplastic iliac wing, Clinodactyly of th... |
OMIM:260660 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... |
OMIM:228930 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal rib morphology, Trach... |
ORPHA:93941 |
| Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Omphalocele, Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal m... |
ORPHA:3035 |
| Congenital Pseudoarthrosis Of The Clavicle |
|
Situs inversus totalis, Dextrocardia |
ORPHA:66630 |
| Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Arachnodactyly, Camptodactyly of finger, Intestinal malrotation, Flexi... |
ORPHA:115 |
| Li-Campeau Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Cryptorchidism, Patent ductus arterio... |
OMIM:619189 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Atrial septal defect, Inguinal hernia, Long clavicles, Ventricular septal defect, Di... |
OMIM:608149 |
| Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Hypertriglyceridemia, Diabetes mellitus, Splenomegaly, Insulin resistance, Hepatosp... |
OMIM:612526 |
| Genitopatellar Syndrome |
|
Hip contracture, Multicystic kidney dysplasia, Micrognathia, Hypoplastic ilia, Cryptorchidism, Pa... |
ORPHA:85201 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Multiple joint contractures, Congenital diaphragmatic hernia, Microgn... |
ORPHA:96170 |
| Verheij Syndrome |
|
Vertebral fusion, Ventricular septal defect, Truncus arteriosus, Short neck, Hip dislocation, Hem... |
OMIM:615583 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Dextrocardia, Camptodactyly of finger, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Mi... |
ORPHA:2863 |
| Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Hemivertebrae, Flexion ... |
OMIM:224690 |
| Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Patent fora... |
OMIM:228520 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Pes planus, Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Micrognat... |
OMIM:147891 |
| Pentalogy Of Cantrell |
|
Omphalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Hypo... |
ORPHA:1335 |
| Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Genu valgum, Tetralogy of Fallot, Anal atresia |
ORPHA:1381 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte... |
ORPHA:210122 |
| Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
| Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis... |
OMIM:601355 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Situs inversus totalis, Dextrocardia |
OMIM:618948 |
| Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal lun... |
ORPHA:1120 |
| Orofaciodigital Syndrome Vi |
|
Micrognathia, Tibial bowing, Lobulated tongue, High palate, Hamartoma of tongue, Central Y-shaped... |
OMIM:277170 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Triphalangeal thumb, Atrial septal defect, Phocomelia, Atrioventric... |
ORPHA:392 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
| Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short thorax, Abnormal rib morp... |
ORPHA:2484 |
| Ciliary Dyskinesia, Primary, 21 |
|
Neonatal respiratory distress, Recurrent pneumonia, Decreased nasal nitric oxide, Bronchiectasis,... |
OMIM:615294 |
| Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Metaphyseal widening, Pectus carinatum, Narrow chest, Nephronophthis... |
OMIM:184260 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Recurrent pneumoni... |
OMIM:619436 |
| Mosaic Trisomy 9 |
|
Hypoplasia of penis, Micromelia, Short neck, Asplenia, Micrognathia, Hemivertebrae, Abnormal lung... |
ORPHA:99776 |
| Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, P... |
OMIM:269860 |
| Esophageal Atresia |
|
Bronchitis, Gastrointestinal dysmotility, Anorectal anomaly, Laryngotracheomalacia, Gastroesophag... |
ORPHA:1199 |
| Thanatophoric Dysplasia |
|
Atrial septal defect, Micromelia, Abnormal sacroiliac joint morphology, Patent ductus arteriosus,... |
ORPHA:2655 |
| Hypocalcemia, Autosomal Dominant 2 |
|
Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
| Laterality Defects, Autosomal Dominant |
|
Situs inversus totalis, Heterotaxy |
OMIM:601086 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio... |
ORPHA:1923 |
| Mosaic Trisomy 8 |
|
Decreased testicular size, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Pat... |
ORPHA:96061 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Acrocardiofacial Syndrome |
|
Hallux valgus, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypospadias, Camptodactyly... |
ORPHA:2008 |
| Thoraco-Abdominal Enteric Duplication |
|
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Missing ribs, Duodenal stenosis, A... |
ORPHA:1759 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, At... |
OMIM:306955 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Beaded ribs, Cardiomegaly, Short neck, Micrognathia, Flexion contracture, Micropenis, Hypospadias... |
OMIM:616897 |
| Lethal Faciocardiomelic Dysplasia |
|
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... |
ORPHA:1972 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Postaxial polydactyly, Kyphosis, Vascular ring, Kn... |
OMIM:603387 |
| Catel-Manzke Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Metatarsus valgus, Pect... |
ORPHA:1388 |
| Progressive Familial Intrahepatic Cholestasis |
|
Hepatomegaly, Splenomegaly, Reduced bone mineral density, Hypocalcemia, Failure to thrive |
ORPHA:172 |
| Symphalangism With Multiple Anomalies Of Hands And Feet |
|
Finger syndactyly, Small hypothenar eminence, Toe syndactyly, 2-5 finger cutaneous syndactyly, Ab... |
ORPHA:3246 |
| Distal Deletion 17Q |
|
Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ... |
ORPHA:1597 |
| Multiple Epiphyseal Dysplasia, Lowry Type |
|
Epiphyseal dysplasia, Brachydactyly, Rhizomelia, Micrognathia, Cleft hard palate, Delayed epiphys... |
ORPHA:166016 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia... |
ORPHA:77298 |
| Fryns Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormal aortic arch morphology, High ... |
ORPHA:2059 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H... |
ORPHA:85170 |
| Delpire-Mcneill Syndrome |
|
Ventricular septal defect, Hip dislocation, Tracheoesophageal fistula, Dysphagia |
OMIM:619083 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Omphalocele, Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyl... |
ORPHA:3329 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Micromelia, Short neck, Abnormal femur morphology, Narrow chest, Hernia, Atria... |
ORPHA:1842 |
| Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Hypoplastic l... |
OMIM:615524 |
| Marden-Walker Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Abnormal sternum morphology, Zollinger-Ellison syn... |
OMIM:248700 |
| Phocomelia, Schinzel Type |
|
Hypoplasia of penis, Micromelia, Short neck, Micrognathia, High, narrow palate, Abnormal tibia mo... |
ORPHA:2879 |
| Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
| Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Broncho... |
ORPHA:95430 |
| Fanconi Anemia, Complementation Group O |
|
Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia of the radius, Rectal atresia,... |
OMIM:613390 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Micrognathia, Short metatarsal,... |
OMIM:609945 |
| Camptodactyly Syndrome, Guadalajara Type 2 |
|
Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Cuboid-shaped vertebral bodies, Hip dis... |
ORPHA:1326 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short neck, Cleft ... |
ORPHA:2756 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring... |
OMIM:601927 |
| Vater/Vacterl Association |
|
Ectopic kidney, Preaxial polydactyly, Abnormal sternum morphology, Triphalangeal thumb, Patent ur... |
OMIM:192350 |
| Distal Triplication 15Q |
|
Arachnodactyly, Craniosynostosis, Micrognathia, Kyphosis, Patent ductus arteriosus, Hypoplastic a... |
ORPHA:314588 |
| Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
| Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Patent ductus arteriosus, Kyphosis, Flexion contrac... |
OMIM:618658 |
| Atelosteogenesis Type I |
|
Joint dislocation, Micrognathia, Narrow chest, Absent or minimally ossified vertebral bodies, Rhi... |
ORPHA:1190 |
| Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Ventricular septal defect, Hypospadias, Absent thumb, Microg... |
OMIM:617516 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Rhizomelia, Talipes, Unilateral renal agenesis, Patent ductus arteriosus, Chron... |
OMIM:617661 |
| Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Vesico... |
ORPHA:2745 |
| Mosaic Trisomy 16 |
|
Single transverse palmar crease, Abnormal lung morphology, Anteriorly placed anus, Atrial septal ... |
ORPHA:1708 |
| Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
| Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Intestinal obstruction, Abnormal thorax morphology, Abnormal sacrum mor... |
ORPHA:2591 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Bicuspid aortic valve, Abnormal hand morphology, Osteolysis involving bones of the u... |
ORPHA:371428 |
| Mosaic Trisomy 1 |
|
Thoracic scoliosis, Single transverse palmar crease, Congenital diaphragmatic hernia, Renal cyst,... |
ORPHA:1692 |
| Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Atrial septal defect, Pulmonary a... |
OMIM:601186 |
| Recombinant Chromosome 8 Syndrome |
|
Atrial septal defect, Ventricular septal defect, Micrognathia, Pectus excavatum, Cryptorchidism, ... |
OMIM:179613 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Abnormal thorax morphology, Finger syndactyly |
ORPHA:85203 |
| Epiphyseal Dysplasia, Multiple, With Miniepiphyses |
|
Epiphyseal dysplasia, Lumbar hyperlordosis, Patellar hypoplasia, Short femoral neck, Irregular pa... |
OMIM:609325 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Renal cyst, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, S... |
OMIM:616300 |
| Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
| Ciliary Dyskinesia, Primary, 29 |
|
Decreased nasal nitric oxide, Ciliary dyskinesia, Bronchiectasis |
OMIM:615872 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Ventricular septal defect, Thoracic hypoplasia, Postaxial polydactyly, M... |
OMIM:617895 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
| Cardiac-Urogenital Syndrome |
|
Patent urachus, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hypos... |
OMIM:618280 |
| Mckusick-Kaufman Syndrome |
|
Urethral stricture, Glandular hypospadias, High palate, Atrial septal defect, Finger syndactyly, ... |
ORPHA:2473 |
| Fanconi Anemia |
|
Micrognathia, Abnormal femur morphology, Leukopenia, High palate, Triphalangeal thumb, Atrial sep... |
ORPHA:84 |
| Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Talipes equino... |
ORPHA:85174 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia... |
ORPHA:2092 |
| Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Preaxial hand polydactyly, Ren... |
OMIM:601389 |
| Atelosteogenesis Type Iii |
|
Short tubular bones of the hand, Micrognathia, Knee dislocation, High palate, Short tibia, Verteb... |
ORPHA:56305 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Abnormal hand morphology, Patent ductus ar... |
ORPHA:228190 |
| C Syndrome |
|
Omphalocele, Fused sternal ossification centers, Short metacarpal, Toe syndactyly, Ventricular se... |
OMIM:211750 |
| Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
| Intellectual Developmental Disorder, Autosomal Recessive 73 |
|
Pes planus, Ventricular septal defect, Single transverse palmar crease, Patent ductus arteriosus,... |
OMIM:619717 |
| Penoscrotal Transposition |
|
Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition, Patellar aplasi... |
ORPHA:2842 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
| Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities |
|
Unilateral wrist flexion contracture, Femoral retroversion, Micrognathia, Knee flexion contractur... |
OMIM:616531 |
| Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Recurrent respirato... |
ORPHA:3041 |
| Absence Deformity Of Leg-Cataract Syndrome |
|
Abnormal epiphysis morphology, Anal atresia, Abnormal femur morphology, Lower limb undergrowth |
ORPHA:2310 |
| Kuskokwim Syndrome |
|
Abnormal clavicle morphology, Talipes, Aplasia/Hypoplasia of the patella, Abnormal form of the ve... |
ORPHA:1149 |
| Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, Omphalocele, Ventricular septal defect, Dextrocardia, Complete atrioventricular... |
OMIM:264480 |
| Femoral-Facial Syndrome |
|
Short fourth metatarsal, Limited elbow movement, Micrognathia, Hemivertebrae, Gastroesophageal re... |
OMIM:134780 |
| Ciliary Dyskinesia, Primary, 11 |
|
Neonatal respiratory distress, Decreased nasal nitric oxide, Bronchiectasis, Immotile cilia, Chro... |
OMIM:612649 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol... |
ORPHA:85166 |
| Scholte Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Acromicria, Small hand, Patellar hypoplasia,... |
OMIM:300977 |
| Intellectual Disability-Spasticity-Ectrodactyly Syndrome |
|
Finger syndactyly, Abnormality of the upper limb, Abnormal hip bone morphology, Clinodactyly of t... |
ORPHA:1891 |
| Schisis Association |
|
Omphalocele, Spina bifida, Micromelia, Congenital diaphragmatic hernia, Tracheoesophageal fistula... |
ORPHA:63862 |
| Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Femoral bowing, Pectus carinatu... |
OMIM:276820 |
| Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Micrognath... |
OMIM:263210 |
| Trisomy 1Q |
|
Microretrognathia, Omphalocele, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Cam... |
ORPHA:261344 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Micrognathia, Preaxial polydactyly, Long thorax, Narrow greate... |
OMIM:617925 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Situs inversus totalis, Asplenia, Abnormal lung lobation, Femoral bowing, Hypertrophic cardiomyop... |
OMIM:615415 |
| Contractural Arachnodactyly, Congenital |
|
Bicuspid aortic valve, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, High... |
OMIM:121050 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy... |
OMIM:613091 |
| Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
| Mesomelic Dysplasia, Savarirayan Type |
|
Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,... |
OMIM:605274 |
| Dextrocardia |
|
Meckel diverticulum, Congenital hip dislocation, Dextrocardia, Intestinal malrotation, Situs inve... |
ORPHA:1666 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Flexion contracture, Narrow chest, Pter... |
ORPHA:1865 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Xk Aprosencephaly Syndrome |
|
Atrial septal defect, Abnormal morphology of the radius, Ventricular septal defect, Anal atresia |
ORPHA:3469 |
| Atelosteogenesis Type Ii |
|
Cervical kyphosis, Micromelia, Short neck, Micrognathia, Tracheobronchomalacia, Narrow chest, Sho... |
ORPHA:56304 |
| Acces Syndrome |
|
Recurrent respiratory infections, Supernumerary nipple, Hip dislocation, Tracheoesophageal fistul... |
OMIM:619959 |
| Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Micrognathia, Secundum atrial ... |
ORPHA:2257 |
| Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor... |
ORPHA:52056 |
| Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Short toe, Patent ductus arteriosus, Short... |
OMIM:604381 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Arachnodac... |
ORPHA:261330 |
| 9Q33.3Q34.11 Microdeletion Syndrome |
|
Prominent metopic ridge, Single transverse palmar crease, Short neck, Cryptorchidism, Patent duct... |
ORPHA:495818 |
| Leri-Weill Dyschondrosteosis |
|
Abnormal femoral neck morphology, Abnormal metatarsal morphology, Limited elbow movement, Abnorma... |
OMIM:127300 |
| Renal Tubular Dysgenesis |
|
Proximal tubulopathy, Multiple renal cysts, Pulmonary hypoplasia, Nephropathy, Tetralogy of Fallot |
ORPHA:3033 |
| Meier-Gorlin Syndrome 3 |
|
Micrognathia, Coxa vara, Patellar hypoplasia, Gastroesophageal reflux, Narrow chest, Micropenis, ... |
OMIM:613803 |
| Ciliary Dyskinesia, Primary, 34 |
|
Neonatal respiratory distress, Reduced respiratory ciliary beating frequency, Decreased nasal nit... |
OMIM:617091 |
| Eiken Syndrome |
|
Epiphyseal dysplasia, Absence of the sacrum, Abnormal acetabulum morphology, Abnormal fingertip m... |
ORPHA:79106 |
| Genitopatellar Syndrome |
|
Congenital hip dislocation, Micrognathia, Knee flexion contracture, Anteriorly placed anus, Atria... |
OMIM:606170 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Acromesomelic Dysplasia 3 |
|
Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Elevated circulating... |
OMIM:609441 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Cleft palate |
OMIM:611867 |
| Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Craniosynostosis, Micrognathia, Congenital diaphragma... |
ORPHA:261197 |
| Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Bowing of the legs, Anteriorly placed anus, Vertebral segmentation defect, Hi... |
OMIM:617063 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Ectopic kidney, Rectal prolapse, Cutaneous finger syndactyly, Protein-losing enteropathy, Hypopla... |
OMIM:235510 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Foot oligodactyly, S... |
OMIM:601357 |
| Cat-Eye Syndrome (Type I) |
|
Anal atresia, Abnormal heart morphology |
DECIPHER:42 |
| Prune Belly Syndrome |
|
Hydroureter, Congenital hip dislocation, Pectus excavatum, Patent ductus arteriosus, Xerostomia, ... |
OMIM:100100 |
| Acromesomelic Dysplasia 2B |
|
Short metacarpal, Brachydactyly, Rhizomelia, Deformed tarsal bones, Talipes equinovalgus, Short m... |
OMIM:228900 |
| Charge Syndrome |
|
Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation test, Micrognat... |
OMIM:214800 |
| Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Short neck, Micrognathia, 2-3 toe cu... |
OMIM:609625 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Abnormal bronchus morphology, Abnormal stomach morphology, Ascending a... |
ORPHA:141127 |
| Microphthalmia With Limb Anomalies |
|
Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2n... |
OMIM:206920 |
| Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Atrial septal defect, ... |
OMIM:263520 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Feingold Syndrome Type 1 |
|
Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Clinodactyly of the 5th finger, Ne... |
ORPHA:391641 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph... |
OMIM:311300 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Pes planus, Patent ductus arteriosus, Absent Achilles reflex, Weak grip, Distal upper limb muscle... |
OMIM:619519 |
| Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
| Thakker-Donnai Syndrome |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoeso... |
ORPHA:1780 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Long toe, Atrial septal defect, Sacral dimple, Pes planus, Sandal gap, Long fingers, Patent ductu... |
ORPHA:261279 |
| Chromosome 9P Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, High palate, Atrial septal defect, Micropenis, Lon... |
OMIM:158170 |
| Campomelic Dysplasia |
|
Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Micrognathia, Delayed epiphyseal o... |
OMIM:114290 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Leukopenia, Vesicoureteral reflux, Pulmonary artery atresia, Micropenis, Hypospadias, Cryptorchid... |
OMIM:301056 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition of the gr... |
ORPHA:1461 |
| Double Outlet Right Ventricle |
|
Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palate, Double outlet rig... |
ORPHA:3426 |
| Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Hypoplasia of penis, Hyperlordosis, Abnormal rib morphology, Tracheoesophageal fistula, Pectus ca... |
ORPHA:3068 |
| Periventricular Nodular Heterotopia |
|
Abnormal heart valve morphology, Pyloric stenosis, Patent ductus arteriosus, Shoulder dislocation... |
ORPHA:98892 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
| Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Ventricular septal defect, Renal hypoplasia, High palate, Atrial septal ... |
OMIM:612946 |
| Ciliary Dyskinesia, Primary, 6 |
|
Ciliary dyskinesia, Sinusitis, Abnormal ciliary motility, Recurrent sinusitis |
OMIM:610852 |
| Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Complete atrioventricular canal defect, Coarctation of aorta, Subvalvular aortic stenosis |
OMIM:217085 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Abnormal atrial arrangement, Atrial situs ambiguous, Productive co... |
ORPHA:244 |
| Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Pancytopenia, Dextrocardia, Megaloblastic anemia, Cystathioninuria, Patent ductus arte... |
OMIM:277380 |
| Meacham Syndrome |
|
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Congenital alveolar dysplasia, Apl... |
OMIM:608978 |
| Saul-Wilson Syndrome |
|
Enlarged epiphyses, Micrognathia, Short metatarsal, Pectus carinatum, Irregular vertebral endplat... |
OMIM:618150 |
| Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... |
OMIM:222600 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Tracheal calcification, Gastroesophageal reflux, Cervical cord compression, At... |
ORPHA:79345 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Hypoplasia of penis, Multiple pterygia, Micrognathia, Symphalangism affecting the phalanges of th... |
ORPHA:2990 |
| Microcephaly, Short Stature, And Limb Abnormalities |
|
11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa... |
OMIM:617604 |
| Eng-Strom Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Arthritis, Abnormal cardiac... |
ORPHA:1937 |
| Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Single transverse palmar crease, Micromelia, Finger joint hypermobility, Atria... |
OMIM:618870 |
| Achondrogenesis Type 2 |
|
Delayed vertebral ossification, Absent vertebral body mineralization, Micromelia, Hypoplastic ili... |
ORPHA:93296 |
| 8p23.1 deletion syndrome |
|
Atrial septal defect, Atrioventricular canal defect, Abnormal heart morphology |
DECIPHER:39 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Cerebral hemorrhage, Elevated circulating ... |
OMIM:300845 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Tetralo... |
ORPHA:1166 |
| Distal Duplication 15Q |
|
Omphalocele, Arachnodactyly, Camptodactyly of finger, Short neck, Pectus excavatum, Cryptorchidis... |
ORPHA:1707 |
| Codas Syndrome |
|
Congenital hip dislocation, Proximal placement of thumb, Gastroesophageal reflux, Atrial septal d... |
OMIM:600373 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Polyuria, Dextrocardi... |
OMIM:615994 |
| Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Short neck, Micrognathia, Vertebral segmentatio... |
OMIM:608022 |
| Isolated Klippel-Feil Syndrome |
|
Ventricular septal defect, Abnormal rib morphology, Cleft palate, Abnormal shoulder morphology, E... |
ORPHA:2345 |
| White Forelock With Malformations |
|
Atrial septal defect, Bronchomalacia, Prominent veins on trunk, Aplasia/Hypoplasia of the distal ... |
OMIM:277740 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Vesicoureteral reflux,... |
OMIM:616894 |
| Velocardiofacial Syndrome |
|
Ventricular septal defect, Abnormality of the hand, Velopharyngeal insufficiency, Submucous cleft... |
OMIM:192430 |
| Catel-Manzke Syndrome |
|
Joint dislocation, Single transverse palmar crease, Short neck, Micrognathia, Pectus carinatum, G... |
OMIM:616145 |
| Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Lipodystrophy, Metaphyseal chondrodysplasia, Abnormal ... |
ORPHA:79321 |
| Vacterl With Hydrocephalus |
|
Absence of the sacrum, Inguinal hernia, Femoral hernia, Spina bifida, Micrognathia, Esophageal at... |
ORPHA:3412 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Tracheo... |
ORPHA:268249 |
| Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Thoracic kyphosis, Short pal... |
ORPHA:508498 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Ankle flexion contracture, Micro... |
OMIM:617468 |
| Trisomy 13 |
|
Ventricular septal defect, Kyphosis, Patent ductus arteriosus, Postaxial hand polydactyly, Abnorm... |
ORPHA:3378 |
| Rubinstein-Taybi Syndrome 1 |
|
Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Bila... |
OMIM:180849 |
| Epiphyseal Stippling-Osteoclastic Hyperplasia Syndrome |
|
Bowing of the long bones, Coarse metaphyseal trabecularization, Patent ductus arteriosus, Epiphys... |
ORPHA:1952 |
| Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Short neck, Hypo... |
OMIM:187600 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Neonatal respiratory distress, Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectas... |
OMIM:300991 |
| Leg, Absence Deformity Of, With Congenital Cataract |
|
Duplication involving bones of the feet, Anal atresia |
OMIM:246000 |
| Ciliary Dyskinesia, Primary, 33 |
|
Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Ciliary dyskinesia |
OMIM:616726 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... |
OMIM:600001 |
| Acalvaria |
|
Omphalocele, Spina bifida, Postaxial hand polydactyly, Abnormal lung lobation, Cleft palate |
ORPHA:945 |
| Ciliary Dyskinesia, Primary, 45 |
|
Immotile cilia, Bronchiectasis, Chronic rhinitis |
OMIM:618801 |
| Crossed Polysyndactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Hypoplasia of penis, Postaxial hand polydactyly |
ORPHA:2935 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Hypospadias, Congenital diaphragmatic hernia, Patent ductus arterios... |
OMIM:313850 |
| 3C Syndrome |
|
Hypoplasia of penis, High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal r... |
ORPHA:7 |
| Brachydactyly Type A7 |
|
Hallux valgus, Short 2nd finger, Sandal gap, Short hallux, Aplasia/Hypoplasia of the middle phala... |
ORPHA:93397 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Brachydactyly, Increased intervertebral space, Thoracic platyspondyly, Metaphyseal widening, Pate... |
OMIM:618961 |
| Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... |
OMIM:200700 |
| 8Q24.3 Microdeletion Syndrome |
|
Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Single transverse pa... |
ORPHA:508488 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Short neck, Micrognathia, Knee flex... |
ORPHA:3103 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Aganglionic megacolon, Esophageal atresia, Tracheoesophageal fistula, Polydact... |
ORPHA:59315 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Large for gestational age, Bruxism, Aggressive behavior |
ORPHA:356996 |
| Glycogen Storage Disease Vi |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Failure to thrive in infancy, Hyperlipidemia, H... |
OMIM:232700 |
| Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Overlapping toe, Partial anomalous pulmonary veno... |
OMIM:617478 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, Muscular ventricular septal defe... |
OMIM:619227 |
| Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Aplasia/Hypoplasia of the patella, Mal... |
ORPHA:1225 |
| 3Mc Syndrome 1 |
|
Omphalocele, Atrial septal defect, Sacral dimple, Ventricular septal defect, Single interphalange... |
OMIM:257920 |
| Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
| Tarp Syndrome |
|
Extramedullary hematopoiesis, Single transverse palmar crease, Micrognathia, Glossoptosis, Atrial... |
ORPHA:2886 |
| Cardioacrofacial Dysplasia 1 |
|
Complete atrioventricular canal defect, Atrioventricular canal defect |
OMIM:619142 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia,... |
OMIM:601163 |
| Ulbright-Hodes Syndrome |
|
Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Abnormal penis ... |
ORPHA:3404 |
| Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
| Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
| 14Q11.2 Microdeletion Syndrome |
|
Toe syndactyly, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, High palate, T... |
ORPHA:261120 |
| Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Gastroesophageal reflux, Cervi... |
ORPHA:353281 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Short neck, Missing ribs, Coronal hypospadias, Esophageal atresia, Bilateral cryptorchidism, Trac... |
OMIM:619859 |
| Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
| Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Multiple joint contractures, Single transverse palmar crease, Micrognathia, Me... |
ORPHA:536471 |
| Feingold Syndrome 1 |
|
Micrognathia, Asplenia, High palate, Accessory spleen, Short thumb, Short toe, Patent ductus arte... |
OMIM:164280 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Single transverse palmar crease, Short neck, Micrognathia, Flexion contracture, Hemivertebrae, Ab... |
ORPHA:96334 |
| Sifrim-Hitz-Weiss Syndrome |
|
Renal insufficiency, Wormian bones, Ventricular septal defect, Tapered finger, Cryptorchidism, Pa... |
OMIM:617159 |
| Tonne-Kalscheuer Syndrome |
|
Decreased testicular size, Pes planus, Hypospadias, Congenital diaphragmatic hernia, Micrognathia... |
OMIM:300978 |
| Pallister-Hall-Like Syndrome |
|
Toe syndactyly, Micromelia, Micrognathia, Postaxial hand polydactyly, Hip dislocation, Microgloss... |
OMIM:241800 |
| Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Tibial... |
OMIM:304120 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aortic arch morphol... |
ORPHA:567 |
| Ulnar-Mammary Syndrome |
|
Abnormal morphology of the radius, Abnormal clavicle morphology, Hypoplasia of penis, Ventricular... |
ORPHA:3138 |
| Pentasomy X |
|
Camptodactyly of finger, Micrognathia, Patent ductus arteriosus, Small hand, Short foot, Radiouln... |
ORPHA:11 |
| Coxopodopatellar Syndrome |
|
Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog... |
ORPHA:1509 |
| Cantu Syndrome |
|
Ovoid vertebral bodies, Broad hallux, Bicuspid aortic valve, Short hallux, Coxa valga, Cardiomega... |
OMIM:239850 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Micrognathia, Metaphyseal widening, Multiple joint dislocation, Ante... |
ORPHA:536467 |
| Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Sinusitis, Abnormal respiratory system physiology, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:242670 |
| Ritscher-Schinzel Syndrome 2 |
|
Syndactyly, Atrial septal defect, Broad hallux, Overlapping toe, Camptodactyly of finger, Ventric... |
OMIM:300963 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Single transverse palmar crease, Micrognathia, Cryptorchidism, Patent ductus ar... |
ORPHA:3304 |
| Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
| Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Abnormality of the hand, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short t... |
OMIM:246570 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hepatomegaly, Osteopenia, Hypocholesterolemia |
OMIM:610539 |
| Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro... |
ORPHA:2839 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Hydronephrosis, Anal atresia |
ORPHA:195 |
| Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Enlarged joints, Flexion contracture, Long coccyx, Halber... |
OMIM:156530 |
| Achondrogenesis, Type Ia |
|
Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han... |
OMIM:200600 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot |
OMIM:187500 |
| Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Tibial bowing, Narrow chest, Ureteral ste... |
OMIM:309350 |
| 2P21 Microdeletion Syndrome |
|
Failure to thrive, Hypoglycemia, Hypocalcemia |
ORPHA:163693 |
| Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
| Tetrasomy 15Q26 |
|
Microretrognathia, Arachnodactyly, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic a... |
OMIM:614846 |
| Hypomagnesemia 1, Intestinal |
|
Hypocalcemia, Hypomagnesemia |
OMIM:602014 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Renal cyst, Pectus carinatum, Vertebral ... |
OMIM:312870 |
| Penile Agenesis |
|
Urethral atresia, male, Ventricular septal defect, Hydroureter, Cloacal abnormality, Rectal fistu... |
ORPHA:49 |
| Mesoaxial Hexadactyly And Cardiac Malformation |
|
Ventricular septal defect, Patent ductus arteriosus, Hand polydactyly, Pulmonic stenosis, Atrial ... |
OMIM:249670 |
| Feingold Syndrome Type 2 |
|
Toe syndactyly, Ventricular septal defect, Jejunal atresia, Short thumb, Short middle phalanx of ... |
ORPHA:391646 |
| Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
| Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... |
OMIM:612561 |
| Van Esch-O'Driscoll Syndrome |
|
Atrial septal defect, Sacral dimple, Ventricular septal defect, Esophageal atresia, Pulmonary art... |
OMIM:301030 |
| Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, High palate, Narrow chest, Hypoplas... |
OMIM:200980 |
| Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Bifid sacrum, Spinal ... |
ORPHA:1756 |
| Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Situs inversus totalis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dysk... |
OMIM:244400 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Osebold-Remondini Syndrome |
|
Dysplastic distal radial epiphyses, Broad toe, Decreased finger mobility, Hypoplasia of the ulna,... |
OMIM:112910 |
| Otoonychoperoneal Syndrome |
|
Hip contracture, Hypospadias, Ankle flexion contracture, Aplasia/Hypoplasia of the fibula, Knee f... |
OMIM:259780 |
| Omodysplasia 2 |
|
Short humerus, Hypospadias, Micrognathia, Cryptorchidism, Anterior wedging of T11, Fibular hypopl... |
OMIM:164745 |
| Cat Eye Syndrome |
|
Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal... |
OMIM:115470 |
| Feingold Syndrome 2 |
|
Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, 2-3 toe syndactyl... |
OMIM:614326 |
| Retinitis Pigmentosa 6 |
|
Immotile cilia |
OMIM:312612 |
| Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
2-4 toe syndactyly, Syndactyly |
OMIM:241000 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Short fourth metatarsal, Short neck, Tibial metaphyseal irregularity, Coxa vara, Flattened femora... |
ORPHA:457395 |
| Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Triphalangeal thumb, Vesicoureteral reflux, Atrial sep... |
OMIM:107480 |
| Phaver Syndrome |
|
Broad hallux phalanx, Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplasti... |
ORPHA:2876 |
| 8P Inverted Duplication/Deletion Syndrome |
|
Small hypothenar eminence, Dextrocardia, Short neck, Pectus excavatum, Long fingers, High, narrow... |
ORPHA:96092 |
| Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Recurrent respiratory infections, Ventricular septal defect, Patent ductus arteriosus, Arteria lu... |
ORPHA:99050 |
| Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Missing ribs, Ectopic kidney, Cryptorchidism, Abnormal... |
ORPHA:3027 |
| Triploidy |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Short n... |
ORPHA:3376 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
| Laurin-Sandrow Syndrome |
|
Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B... |
OMIM:135750 |
| Odontochondrodysplasia |
|
Bowing of the long bones, Micromelia, Coxa valga, Patent ductus arteriosus, Cone-shaped epiphysis... |
ORPHA:166272 |
| Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Cleft palate, Right aortic arch, Pes cavus |
OMIM:617616 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Jawad Syndrome |
|
Hallux valgus, Thoracic scoliosis, Single interphalangeal crease of fifth finger, Postaxial polyd... |
OMIM:251255 |
| Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Ventricular septal defect, Mesoaxial hand polydactyly, Postaxial polydactyly... |
OMIM:615996 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Micropenis, Polydactyly, Brachydactyly |
OMIM:615983 |
| Down Syndrome |
|
Single transverse palmar crease, Hypoplastic iliac wing, Atrial septal defect, Short palm, Atriov... |
OMIM:190685 |
| Holt-Oram Syndrome |
|
Thoracic scoliosis, Secundum atrial septal defect, Aplasia of the pectoralis major muscle, Abnorm... |
OMIM:142900 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
| Nemaline Myopathy 9 |
|
Ventricular septal defect, Cleft palate, High palate, Scoliosis, Arthrogryposis multiplex congenita |
OMIM:615731 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,... |
OMIM:308050 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Sagittal craniosynostosis, Micrognathia, Small hand, Broa... |
OMIM:145420 |
| Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Toe syndactyly, Micromelia, Postaxial hand pol... |
ORPHA:474 |
| Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... |
OMIM:618624 |
| Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
| Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Micrognathia, Elbow dislocation, Cryptorchidism, Irregular femoral epiph... |
OMIM:613805 |
| Langer Mesomelic Dysplasia |
|
Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu... |
ORPHA:2632 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Micromelia, Renal cyst, Thoracic dysplasia, Narrow chest, High palate, Syndactyly, Hypospadias, R... |
OMIM:614091 |
| Fibrochondrogenesis |
|
Omphalocele, Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Abnormal rib ... |
ORPHA:2021 |
| 8P23.1 Microdeletion Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragmatic hernia, Enlarged ... |
ORPHA:251071 |
| Cutis Laxa, Autosomal Recessive, Type Ic |
|
Single transverse palmar crease, Micrognathia, Morgagni diaphragmatic hernia, Rectal prolapse, Ga... |
OMIM:613177 |
| Seckel Syndrome 1 |
|
Abnormal finger flexion crease, Single transverse palmar crease, Micrognathia, High palate, Clino... |
OMIM:210600 |
| Heart-Hand Syndrome, Slovenian Type |
|
Syndactyly, Dilated cardiomyopathy, Aplasia of the middle phalanx of the hand, Clinodactyly, Brac... |
OMIM:610140 |
| Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Aplasia of the 1st metacarpal, Reticulocytopenia, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
| Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Micrognathia, Abnormal lung lobation, Tetraphocomelia, Hypoplastic verte... |
OMIM:215140 |
| Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Patent ductus arteriosus, Short thorax, Aplasia/Hypoplasia of the lungs, Pl... |
ORPHA:93274 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Patent ductus arteriosus, Flexion contracture, Pulmonary hypoplasia, Dysphagia, Arthrogryposis mu... |
OMIM:616867 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Ciliary Dyskinesia With Transposition Of Ciliary Microtubules |
|
Ciliary dyskinesia |
OMIM:215520 |
| Intellectual Developmental Disorder, Autosomal Recessive 33 |
|
Syndactyly, Short toe |
OMIM:614341 |
| Oculofaciocardiodental Syndrome |
|
Intestinal malrotation, Short thumb, Patent ductus arteriosus, Submucous cleft hard palate, Broad... |
ORPHA:2712 |
| Chylomicron Retention Disease |
|
Failure to thrive, Decreased LDL cholesterol concentration, Steatorrhea, Hypoalbuminemia, Hypocho... |
OMIM:246700 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
|
Aggressive behavior, Hyperlipidemia, Hyperinsulinemia, Obesity, Hyperglycemia, Polyphagia |
ORPHA:329249 |
| Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Abnormal form of the vertebral bodies, Tibial bowing, Camptod... |
ORPHA:1106 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Crossed fused renal ectopia, Overlapping toe, Hypoplastic right heart, Postaxial polydactyly, Ven... |
OMIM:618142 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Ventricular septal defect, Pancreatic fibrosis, Postaxial polydactyly, Lateral clavic... |
OMIM:615503 |
| Rapadilino Syndrome |
|
Joint dislocation, Aplasia/Hypoplasia of the patella, Absent thumb, High, narrow palate, Cleft pa... |
OMIM:266280 |
| 3P25.3 Microdeletion Syndrome |
|
Proximal placement of thumb, Micrognathia, High, narrow palate, Knee flexion contracture, Atrial ... |
ORPHA:435638 |
| Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Bicuspid aortic valve, Ventricular septal defect, Hypospadias, Cryptorchidism, Patent ductus arte... |
ORPHA:500159 |
| Diamond-Blackfan Anemia 7 |
|
Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Secundum atrial septal d... |
OMIM:612562 |
| Meier-Gorlin Syndrome 6 |
|
Microretrognathia, Recurrent respiratory infections, Sandal gap, Decreased response to growth hor... |
OMIM:616835 |
| Patent Ductus Arteriosus 2 |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus |
OMIM:617035 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Ventricular septal defect, Sandal gap, Supernumerary nipple, Congenital diaphragmatic hernia, Pec... |
OMIM:612530 |
| Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoureteral reflux, Atrial se... |
OMIM:607323 |
| Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Single transverse palmar crease, Short neck, Micrognathia, Tibial bowing, Femora... |
OMIM:601559 |
| Floating-Harbor Syndrome |
|
Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Atrial septal de... |
OMIM:136140 |
| 3Q29 Microdeletion Syndrome |
|
Hypospadias, Tapered finger, Pectus excavatum, Patent ductus arteriosus, Horseshoe kidney, Pectus... |
ORPHA:65286 |
| Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Cardiomegaly, Complete atrioventricular canal defect, Wheezing... |
ORPHA:1329 |
| Omphalocele-Cleft Palate Syndrome, Lethal |
|
Omphalocele, Bifid uvula, Cleft palate |
OMIM:258320 |
| Meier-Gorlin Syndrome 4 |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Cryptorchidism, Patellar aplasia, Slender l... |
OMIM:613804 |
| Absence Of The Pulmonary Artery |
|
Recurrent respiratory infections, Abnormal coronary artery morphology, Cardiomegaly, Patent ductu... |
ORPHA:980 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Bilateral cryptorchidism, Distal widening... |
OMIM:602535 |
| Vacterl Association With Hydrocephalus |
|
Absent thumb, Radial club hand, Renal hypoplasia, Abnormal heart morphology, Anal atresia |
OMIM:276950 |
| Osteodysplasty, Precocious, Of Danks, Mayne, And Kozlowski |
|
Recurrent respiratory infections, Short toe, Abnormal long bone morphology, Abnormal pelvic girdl... |
OMIM:259270 |
| Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Abnormal lung lobation, Cleft palate, Abnormal rib cage morphology, Hand... |
OMIM:217100 |
| Femoral-Facial Syndrome |
|
Micrognathia, Coxa vara, Vertebral segmentation defect, Aplasia/Hypoplasia of the tibia, Cryptorc... |
ORPHA:1988 |
| Syndactyly Type 5 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Ulnar deviation of finger, Metacarpal synostosis, Cl... |
ORPHA:93406 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, High palate, Gas... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Micrognathia, Abnormal curvature of the vertebral column, High palate, Gas... |
ORPHA:353277 |
| Fryns-Smeets-Thiry Syndrome |
|
Arachnodactyly, Micrognathia, Patellar aplasia, Hip dislocation, Scoliosis |
ORPHA:2058 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Flexion c... |
ORPHA:666 |
| Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Dilated cardiomyopathy, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
| Achondroplasia |
|
Bowing of the legs, Femoral bowing, Narrow greater sciatic notch, Trident hand, Genu varum, Radia... |
OMIM:100800 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter... |
OMIM:619797 |
| Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn... |
ORPHA:91387 |
| Lethal Congenital Contracture Syndrome 11 |
|
Microretrognathia, Flexion contracture, Elbow flexion contracture, Distal arthrogryposis, Bilater... |
OMIM:617194 |
| Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplication of thumb phalanx... |
OMIM:617926 |
| Wahab Syndrome |
|
Syndactyly, Short metacarpal, Short thumb, Short foot, Short palm, Clinodactyly, Camptodactyly, A... |
OMIM:615170 |
| Chromosome 15Q25 Deletion Syndrome |
|
Macrocytic anemia, Inguinal hernia, Ventricular septal defect, Dextrocardia, Congenital diaphragm... |
OMIM:614294 |
| Even-Plus Syndrome |
|
Epiphyseal dysplasia, Atrial septal defect, Renal hypoplasia, High palate, Vesicoureteral reflux,... |
OMIM:616854 |
| Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome |
|
Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia... |
ORPHA:988 |
| Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
| Acropectoral Syndrome |
|
Pectus excavatum, Partial duplication of thumb phalanx, Preaxial polydactyly, Pectus carinatum, T... |
OMIM:605967 |
| Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Radioulnar synostosis, Hip dysplasia |
ORPHA:71289 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal form of the vertebral bodies, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abn... |
ORPHA:2370 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, 2-3 toe cutaneous syndactyly, Renal cyst, Micropha... |
OMIM:618454 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Hemive... |
OMIM:146510 |
| Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia |
|
Flexion contracture, Scoliosis, Patellar hypoplasia, Micrognathia |
OMIM:251240 |
| Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
| Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp... |
OMIM:208500 |
| Acromesomelic Dysplasia 2C |
|
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ... |
OMIM:201250 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Anteriorly placed anus, High palate, Narrow chest,... |
OMIM:619148 |
| Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss |
|
Splenomegaly, Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration |
OMIM:619658 |
| Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Unilateral renal agenesis, Pate... |
OMIM:618494 |
| Desbuquois Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Genu recurvatum, Coxa valga, Elbow dislocatio... |
ORPHA:1425 |
| Distal Deletion 15Q |
|
Bicuspid aortic valve, Single transverse palmar crease, Congenital diaphragmatic hernia, Microgna... |
ORPHA:1596 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Hepatomegaly, Hypocalcemia |
ORPHA:100025 |
| Fetal Trimethadione Syndrome |
|
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... |
ORPHA:1913 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Kyphoscoliosis, Craniosynostosis, Cryptorchidism, ... |
ORPHA:65759 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Ciliary Dyskinesia, Primary, 35 |
|
Neonatal respiratory distress, Abdominal situs ambiguus, Productive cough, Situs inversus totalis... |
OMIM:617092 |
| Syndactyly Type 3 |
|
Finger syndactyly, Short toe, Camptodactyly of finger |
ORPHA:93404 |
| Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glo... |
OMIM:117650 |
| 1Q21.1 Microduplication Syndrome |
|
Hypospadias, Cryptorchidism, Hip dislocation, Hip dysplasia, Gastroesophageal reflux, Talipes equ... |
ORPHA:250994 |
| Simpson-Golabi-Behmel Syndrome |
|
Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Congenital diaphragmatic h... |
ORPHA:373 |
| Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Atrial septal defect, Pes planus, Inguinal hernia, Bicuspid aortic valve, Single transverse palma... |
ORPHA:329224 |
| Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, High palat... |
OMIM:249420 |
| Distal Duplication 14Q |
|
Patent ductus arteriosus, Abnormal aortic morphology, Abnormal lung lobation |
ORPHA:1705 |
| Floating-Harbor Syndrome |
|
Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Gastroesophageal reflux, Atrial septal defe... |
ORPHA:2044 |
| Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Intestinal malrotation, Short neck, Micrognathia, Patent ductus arteriosus, Bilateral cleft lip a... |
ORPHA:2001 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... |
OMIM:612447 |
| Serkal Syndrome |
|
Abnormal penis morphology, Hypospadias, Ventricular septal defect, Congenital diaphragmatic herni... |
ORPHA:139466 |
| Williams Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ... |
ORPHA:904 |
| Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Right ventricular dilatation, ... |
ORPHA:79328 |
| Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
Osteopathia striata, Abnormal pelvic girdle bone morphology, Abnormal diaphysis morphology, Abnor... |
ORPHA:2779 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ... |
OMIM:270100 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
| Postaxial Acrofacial Dysostosis |
|
Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi... |
OMIM:263750 |
| Craniosynostosis With Fibular Aplasia |
|
Cryptorchidism, Single transverse palmar crease, Craniosynostosis, Fibular aplasia |
OMIM:218550 |
| Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Camptodactyly of finger, Short neck, ... |
OMIM:244300 |
| Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Arachnodactyly, Overlapping toe, Thoracolumbar scoliosis, Hypospadias, Metatarsu... |
ORPHA:436003 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, ... |
ORPHA:2143 |
| Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow... |
ORPHA:2554 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital pulmonary airway ... |
OMIM:243150 |
| Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia |
|
Brachydactyly, Aplasia/Hypoplasia of the fibula, Split foot, Short phalanx of finger, Fibular apl... |
OMIM:113310 |
| Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidn... |
ORPHA:93929 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Pes planus, Overriding aorta, Sandal gap, Bicuspid aortic valve, Ventricular septal defect, Paten... |
ORPHA:477817 |
| Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome |
|
Short fourth metatarsal, Short neck, Cryptorchidism, Renal hypoplasia, Patellar hypoplasia, Pseud... |
ORPHA:464288 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Fibular hypopla... |
OMIM:201170 |
| Blomstrand Lethal Chondrodysplasia |
|
Short metacarpal, Bowing of the long bones, Rhizomelia, Aplastic clavicle, Protruding tongue, Mic... |
ORPHA:50945 |
| Miller-Dieker Syndrome |
|
Clinodactyly of the 5th finger, Nephropathy, Sacral dimple, Omphalocele |
ORPHA:531 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Short neck, Micrognathia, Abnormality of the elbow, Abnormal rib morphology, Abnormal form of the... |
ORPHA:1486 |
| Charge Syndrome |
|
Abnormal tibia morphology, Hemivertebrae, Gastroesophageal reflux, Vesicoureteral reflux, Clinoda... |
ORPHA:138 |
| Rothmund-Thomson Syndrome Type 2 |
|
Joint dislocation, Aplastic anemia, Patellar hypoplasia, High palate, Neutropenia, Short phalanx ... |
ORPHA:221016 |
| Trisomy 18 |
|
Congenital diaphragmatic hernia, Hernia, Atrial septal defect, Bilateral single transverse palmar... |
ORPHA:3380 |
| Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal heart valve morphology, Ovoid vertebral bodies,... |
ORPHA:1517 |
| Dihydropyrimidinase Deficiency |
|
Uraciluria, Short phalanx of finger, Talipes equinovarus, Anal atresia |
OMIM:222748 |
| Ellis Van Creveld Syndrome |
|
Micromelia, Epispadias, Narrow chest, Atrial septal defect, Atrioventricular canal defect, Emphys... |
ORPHA:289 |
| Renpenning Syndrome |
|
Hypospadias, Pectus excavatum, Abnormal thumb morphology, High, narrow palate, Abnormal rib morph... |
ORPHA:3242 |
| Trigonocephaly 1 |
|
Omphalocele, Craniosynostosis, High, narrow palate, Long penis, Lumbar hemivertebrae, Metopic syn... |
OMIM:190440 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Whim Syndrome 2 |
|
Tetralogy of Fallot |
OMIM:619407 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Atrial septal defect, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphr... |
OMIM:614080 |
| Split-Hand/Foot Malformation With Long Bone Deficiency 1 |
|
Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo... |
OMIM:119100 |
| Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome |
|
Finger syndactyly, Toe syndactyly, Elbow dislocation, Patent ductus arteriosus, Aplasia/Hypoplasi... |
ORPHA:1112 |
| Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Subcutaneous lipoma, High, narrow palate, Patent ... |
ORPHA:79076 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Micrognathia, Pectus carinatum, Knee dislocati... |
ORPHA:536545 |
| Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Rib fusion, Hemiver... |
OMIM:271520 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Mucolipidosis Type Iii |
|
Inguinal hernia, Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral b... |
ORPHA:577 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hypocalcemia, Hypocalcemic tetany, Decreased skull os... |
ORPHA:93324 |
| Intermediate Osteopetrosis |
|
Cortical sclerosis, Generalized osteosclerosis, Hepatosplenomegaly, Abnormality of bone mineral d... |
ORPHA:210110 |
| Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
| Hereditary Mucoepithelial Dysplasia |
|
Recurrent respiratory infections, Anorectal anomaly, Tracheoesophageal fistula, Furrowed tongue, ... |
ORPHA:1839 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thorax, Nephrocalcinosis, Short long bo... |
OMIM:615633 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Micrognathia, High, narrow pa... |
OMIM:619472 |
| Thymic-Renal-Anal-Lung Dysplasia |
|
Ureteral agenesis, Ureteral dysgenesis, Anal atresia |
OMIM:274265 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, Trident acetabulum... |
OMIM:617405 |
| 15Q24 Microdeletion Syndrome |
|
Hypospadias, Proximal placement of thumb, Abnormal thumb morphology, Abnormal toe morphology, Sma... |
ORPHA:94065 |
| Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Ventricular septal defect, Aplasi... |
ORPHA:2256 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Hypospadias, Proximal placement of thumb, Short neck, Tracheomalacia, Cryptorchidism,... |
OMIM:217980 |
| Yuan-Harel-Lupski Syndrome |
|
Pes planus, Bicuspid aortic valve, Sandal gap, Ventricular septal defect, Talipes equinovalgus, A... |
OMIM:616652 |
| Spinal Muscular Atrophy With Mental Retardation |
|
Syndactyly |
OMIM:271109 |
| Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
| Bardet-Biedl Syndrome 14 |
|
Renal insufficiency, Polydactyly |
OMIM:615991 |
| Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, High palate, Gastroesophageal reflux, ... |
OMIM:188400 |
| Omodysplasia 1 |
|
Short neck, Micrognathia, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, I... |
OMIM:258315 |
| 46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
|
Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Abnormality of t... |
ORPHA:2973 |
| Testicular Anomalies With Or Without Congenital Heart Disease |
|
Inguinal hernia, Corpus cavernosum hypoplasia, Perineal hypospadias, Microphallus, Tetralogy of F... |
OMIM:615542 |
| Pancreatic Lipase Deficiency |
|
Hypocholesterolemia, Steatorrhea |
OMIM:614338 |
| Meier-Gorlin Syndrome 2 |
|
Bronchomalacia, Micrognathia, Patellar aplasia, Slender long bone, Gastroesophageal reflux, Campt... |
OMIM:613800 |
| Coenzyme Q10 Deficiency, Primary, 7 |
|
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Scoliosis, Dysphagia... |
OMIM:616276 |
| Marden-Walker Syndrome |
|
Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus carinatum, Bifid uvula, A... |
ORPHA:2461 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
| X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short middle phalanx of finger, Anal atresia, Brachydactyly |
ORPHA:1436 |
| Potocki-Lupski Syndrome |
|
Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Patent foramen ovale, Hypoch... |
OMIM:610883 |
| Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
| Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Hypoglycemia, Hyperinsulinemia, Hyperammonemia, Hypoglycemic seizures, Attention deficit hyperact... |
OMIM:620211 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Bowing of the long bones, Splenomegaly, Abnormal tibia morphology, Abnormal femur morphology, Abn... |
ORPHA:1802 |
| Gm1 Gangliosidosis |
|
Abnormal form of the vertebral bodies, Gastroesophageal reflux, Aspiration pneumonia, Cherry red ... |
ORPHA:354 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 |
|
Syndactyly, Postaxial hand polydactyly |
OMIM:615938 |
| Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism |
|
Pulmonary hypoplasia, Upper limb undergrowth, Thoracic hypoplasia |
OMIM:613124 |
| Langer Mesomelic Dysplasia |
|
Hypoplasia of the ulna, Radial bowing, Lumbar hyperlordosis, Micrognathia, Hypoplasia of the radi... |
OMIM:249700 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Atrial septal defect, Ventricular septal defect, Rocker bottom foot, Short neck, Pectu... |
OMIM:612582 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Bifid distal phalanx of the thumb, Micrognathia, Esophageal atresia, D... |
ORPHA:2209 |
| Faciocardiomelic Dysplasia, Lethal |
|
Hypoplasia of the ulna, Radial deviation of the hand, Single transverse palmar crease, Talipes, M... |
OMIM:227270 |
| Zaki Syndrome |
|
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Micrognathia, Long fingers, Paten... |
OMIM:619648 |
| Acrofacial Dysostosis, RodrÃguez Type |
|
Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal form of the... |
ORPHA:1788 |
| Agnathia-Otocephaly Complex |
|
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Pulmonary hypoplas... |
OMIM:202650 |
| Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome |
|
Patent ductus arteriosus, Coarctation of aorta, Bilateral lung agenesis, Abnormal cardiac septum ... |
OMIM:601612 |
| Gordon Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Pectus excavatum, Cleft palate, High palate, Clinodac... |
ORPHA:376 |
| Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Proximal placement of thumb, Short neck, Micrognathia, Congenital diaphragma... |
ORPHA:818 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Lateral ... |
ORPHA:3144 |
| Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Proximal placement of thumb, Micromelia, Microgn... |
ORPHA:628 |
| Boomerang Dysplasia |
|
Absent radius, Hypoplastic iliac body, Fibular aplasia |
OMIM:112310 |
| Coffin-Siris Syndrome 1 |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Ectopic kidney, Prominent inter... |
OMIM:135900 |
| Developmental And Epileptic Encephalopathy 66 |
|
Atrial septal defect, Ventricular septal defect, Dextrocardia, Cryptorchidism, Neutropenia, Clino... |
OMIM:618067 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Hypospadias, Kyphosis, Pectus carinatum, Aplasi... |
ORPHA:1548 |
| Bardet-Biedl Syndrome 10 |
|
Renal insufficiency, Polydactyly, Renal cyst |
OMIM:615987 |
| Tetralogy Of Fallot And Glaucoma |
|
Tetralogy of Fallot |
OMIM:187501 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Partial atrioventricular canal defect, Situs inversus totalis, Decreased nasal nitric oxide, Prim... |
OMIM:619608 |
| Hypertriglyceridemia 2 |
|
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia |
OMIM:619324 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Pectus carinatum, Leukopenia, Neutropenia,... |
OMIM:617303 |
| Tetralogy Of Fallot |
|
Clinodactyly of the 5th finger, Tetralogy of Fallot, Brachydactyly |
ORPHA:3303 |
| Mesoaxial Synostotic Syndactyly With Phalangeal Reduction |
|
Finger syndactyly, Toe syndactyly, Short hallux, Aplasia/Hypoplasia of the middle phalanges of th... |
ORPHA:157801 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Pes planus, Inguinal hernia, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Met... |
OMIM:184250 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Syndactyly, Congenital hip dislocation, Absent nipple, Pectus excavatum, Patent ductus arteriosus... |
OMIM:104350 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Single transverse palmar crease, Micrognathia, Crypt... |
OMIM:247200 |
| Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Single transverse palmar crease, Micrognathia, High, narrow palate, Aminoaciduria, High palate, U... |
OMIM:214100 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:3097 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Patent ductus arteriosus, Flexi... |
OMIM:613870 |
| Tetrasomy 9P |
|
Joint dislocation, Short neck, Micrognathia, High palate, Clinodactyly of the 5th finger, Micrope... |
ORPHA:3310 |
| Chromosome 1P36 Deletion Syndrome, Proximal |
|
Bicuspid aortic valve, Ventricular septal defect, Complete atrioventricular canal defect, Patent ... |
OMIM:619343 |
| Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Abnormal thorax morphology, Ulnar deviated club han... |
OMIM:164900 |
| Distal Deletion 10P |
|
Hypoplasia of penis, Abnormality of the elbow, Cleft palate, Ectopic anus, Clinodactyly of the 5t... |
ORPHA:1580 |
| Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Gastrointestinal dysm... |
ORPHA:363705 |
| Syndactyly, Mesoaxial Synostotic, With Phalangeal Reduction |
|
Aplasia/Hypoplasia of the thumb, Single transverse palmar crease, Aplasia/Hypoplasia of the middl... |
OMIM:609432 |
| Meckel Syndrome, Type 1 |
|
Short neck, Asplenia, Micrognathia, Lobulated tongue, Accessory spleen, Syndactyly, Cryptorchidis... |
OMIM:249000 |
| Phenobarbital Embryopathy |
|
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Tetralogy of Fallot... |
ORPHA:1919 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Atrial septal defect, Arachnodactyly, Sandal gap, Hypospadias, Ventricular septal defect, Pectus ... |
OMIM:617602 |
| Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
| 2q33.1 deletion syndrome |
|
Inguinal hernia, Short stature, High palate, Cleft palate |
DECIPHER:51 |
| Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Absent radius, Absent thumb, Esophagea... |
OMIM:614083 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Short neck, Micrognathia, Triangular shaped distal phalanges of t... |
OMIM:271665 |
| Timothy Syndrome |
|
Ventricular septal defect, Hypoglycemia, Cardiomegaly, Hypocalcemia, Tetralogy of Fallot, Patent ... |
OMIM:601005 |
| Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Overlapping toe, Hypospadias, Unilateral renal agenesis, Muscular ventricular septal defect, Pate... |
ORPHA:363444 |
| Ciliary Dyskinesia, Primary, 48, Without Situs Inversus |
|
Situs inversus totalis, Recurrent pneumonia, Bronchiectasis, Recurrent sinusitis |
OMIM:620032 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Finger syndactyly, Ventricular septal defect, Aortopulmonary collateral arterie... |
OMIM:620025 |
| Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
| Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Micrognathia, Irregular vertebral endplates, Knee dislocation, High palate, Amelogenesis imperfec... |
OMIM:618363 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Inguinal hernia, Toe syndactyly, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:250989 |
| Frontometaphyseal Dysplasia 2 |
|
Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Short metatarsal, Finger cl... |
OMIM:617137 |
| Acromesomelic Dysplasia, Grebe Type |
|
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... |
ORPHA:2098 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Decreased HDL cholesterol concentration, Failure to thrive, Decreased LDL cholesterol concentrati... |
OMIM:616834 |
| Spinal Muscular Atrophy, Type I |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect |
OMIM:253300 |
| Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the toes, Aplasia/Hypopl... |
ORPHA:94066 |
| Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
| Distal Deletion 10Q |
|
Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali... |
ORPHA:96148 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Cleft palate, Aplasia/Hypoplasia of the radius, Ectopic ... |
ORPHA:2476 |
| Chromosome 18Q Deletion Syndrome |
|
Decreased response to growth hormone stimulation test, Proximal placement of thumb, Short neck, A... |
OMIM:601808 |
| Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... |
OMIM:150250 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... |
OMIM:619910 |
| Lateral Meningocele Syndrome |
|
Bicuspid aortic valve, Short neck, Micrognathia, High palate, Vertebral fusion, Tethered cord, Cr... |
OMIM:130720 |
| Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, Positional foot deformity, High palate, Atrial septal defect, Vesicoureter... |
OMIM:610443 |
| Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Abno... |
ORPHA:2162 |
| Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Methyl... |
OMIM:614857 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Anomalous origin of left coronary artery from the pulmonary artery, Bilateral cryptorchidism, Mid... |
ORPHA:2326 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Recurrent respiratory infections, Sacral dimple, Postaxial polydactyly, Tapered finger, Lower lim... |
OMIM:300968 |
| Pulmonary Atresia-Intact Ventricular Septum Syndrome |
|
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology |
ORPHA:1208 |
| 6P22 Microdeletion Syndrome |
|
Finger syndactyly, Short neck, Patent ductus arteriosus, Hernia, Clinodactyly, Hydronephrosis |
ORPHA:251046 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Glossoptosis, High palate, G... |
ORPHA:444077 |
| Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Tracheoesophageal fistula, Anal atresia, Sirenomelia |
ORPHA:3169 |
| Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Kyphoscoliosis, Patent ductus arteriosus, Pectus carinatum, Oligo... |
ORPHA:397709 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
| Mirror Movements 3 |
|
Situs inversus totalis |
OMIM:616059 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Short 2nd finger, Sandal gap, Broad hallux, Ventricular septal defect, Secundum atrial septal def... |
OMIM:600987 |
| Craniofacioskeletal Syndrome |
|
Micrognathia, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Barrel-shaped che... |
OMIM:300712 |
| Renal Tubular Acidosis, Distal, 1 |
|
Hypokalemia, Osteomalacia, Elevated circulating creatinine concentration, Hypocalcemia |
OMIM:179800 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Short femur, Rhizomelia, Sandal gap, Hypospadias, Cryptorchidism, Patent ductus ar... |
OMIM:607143 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, High palate, Gastroesophageal reflux, Atr... |
OMIM:613792 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... |
ORPHA:99125 |
| Metaphyseal Dysplasia Without Hypotrichosis |
|
Metaphyseal dysplasia, Short metacarpal, Cone-shaped epiphyses of the phalanges of the hand, Meta... |
OMIM:250460 |
| Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Flar... |
OMIM:253000 |
| Rothmund-Thomson Syndrome Type 1 |
|
Short metacarpal, Plantar hyperkeratosis, Aplastic anemia, Abnormal dental enamel morphology, Met... |
ORPHA:221008 |
| Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Ventricular septal defect, Hypospadias, Pectus excavatum, Patent ductus arteriosus, Pulmonary seq... |
OMIM:618330 |
| Distal Deletion 13Q |
|
Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Abnormal cardiac septum morphology, Abn... |
ORPHA:1590 |
| Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardiomegaly |
OMIM:614096 |
| Pfeiffer Syndrome Type 3 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93260 |
| Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Sacral dimple, Craniosynostosis, Micrognathia, Short neck, Patent ductus arteriosus, Clinodactyly... |
ORPHA:1516 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Atrial septal defect, Anal stenosis, Broad hallux, Aganglionic megacolon, Shortening of all dista... |
OMIM:614749 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Thrombocytopenia, Patent ductus arteriosus, Splenomegaly, Atrial septa... |
ORPHA:290 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Missing ribs, Short neck, Humeroradial synostosis, Micro... |
OMIM:251230 |
| Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Micrognathia, Cryptorchidism, Abnormal sacrum mo... |
ORPHA:1926 |
| Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Single transverse palmar crease, Short neck, 2-3 toe syndactyly, Renal cyst, C... |
OMIM:236500 |
| Hypoparathyroidism, Familial Isolated, 1 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
| Bartsocas-Papas Syndrome 1 |
|
Short neck, Ectopic kidney, Bilateral cryptorchidism, Micrognathia, Flexion contracture, Hypoplas... |
OMIM:263650 |
| Renal Agenesis, Bilateral |
|
Abnormal sacrum morphology, Tracheoesophageal fistula, Cleft palate, Sirenomelia, Abnormal intest... |
ORPHA:1848 |
| Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Splenomegaly, Proximal femoral metaphyseal irregularity, Recurr... |
OMIM:602271 |
| Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Ventricular septal defect, Short neck, Protruding tongue, Cryptorchidism, Patent ductus arteriosu... |
OMIM:612938 |
| Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Single transverse palmar crease, Secundum atrial septal defect, Pectus carinatum, Leukopenia, Hig... |
OMIM:612541 |
| Monosomy 18Q |
|
Pes planus, Arachnodactyly, Abnormal palmar dermatoglyphics, Absence of the pulmonary valve, Tape... |
ORPHA:1600 |
| Hypothyroidism, Congenital, Nongoitrous, 6 |
|
Omphalocele, Congenital hip dislocation, Macroglossia, Wormian bones, Anemia |
OMIM:614450 |
| Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Atrial septal defect, Recurrent respiratory infections, Micromelia, Abnormal cerebral vascular mo... |
ORPHA:2637 |
| Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
| Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pes planus, Scapular winging, Inguinal hernia, Supernumerary nipple, Micrognathia, Pectus excavat... |
OMIM:619122 |
| Blepharo-Cheilo-Odontic Syndrome |
|
Finger syndactyly, Anal atresia, Bilateral cleft lip and palate |
ORPHA:1997 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital hip dislocation, Patent ductus arteriosus, D... |
ORPHA:2412 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Bowing of the long bones, Toe syndactyly, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchi... |
ORPHA:171839 |
| Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
| Anus, Imperforate |
|
Anal atresia |
OMIM:207500 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Metaphyseal widening, Delayed proximal femoral e... |
OMIM:271640 |
| Pfeiffer Syndrome Type 2 |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Intestinal malrotation, Short hallux, Ha... |
ORPHA:93259 |
| Metaphyseal Chondrodysplasia, Schmid Type |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... |
OMIM:156500 |
| Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Recurrent respiratory infections, Esophageal stenosis, Abnormality of n... |
ORPHA:1775 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Urinary incontinence, Preaxia... |
OMIM:617927 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Aplasia of the 1st metaca... |
ORPHA:1352 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Atrial septal defect, Scapular winging, Sandal gap, Single transverse palmar crease, Ventricular ... |
OMIM:617061 |
| Hypotonia-Cystinuria Syndrome |
|
Failure to thrive, Polyphagia, Hypocalcemia, Neonatal hypoglycemia |
OMIM:606407 |
| Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidi... |
ORPHA:1703 |
| Cranioacrofacial Syndrome |
|
Abnormal hand morphology, Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Pes planus, Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal car... |
ORPHA:93351 |
| Liebenberg Syndrome |
|
Metaphyseal widening, Elbow flexion contracture, Abnormal carpal morphology, 2-3 finger syndactyl... |
OMIM:186550 |
| Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
| Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Single transverse palmar crease, Cryptorchidism, Patent ductus arteriosus, Cleft p... |
OMIM:615502 |
| Fetal Akinesia Deformation Sequence |
|
Intestinal hypoplasia, Multiple joint contractures, Camptodactyly of finger, Micrognathia, Crypto... |
ORPHA:994 |
| Peroxisome Biogenesis Disorder 3B |
|
Hepatomegaly, Osteoporosis, Elevated circulating phytanic acid concentration, Steatorrhea, Failur... |
OMIM:266510 |
| Grange Syndrome |
|
Syndactyly, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Short palm |
ORPHA:79094 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia, Hypophosphatemia,... |
OMIM:600081 |
| Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Long hallux, Abnormality of the anus, Broad ha... |
ORPHA:2308 |
| Sweeney-Cox Syndrome |
|
2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Long fingers, Patent ductus arteriosus, V... |
OMIM:617746 |
| Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Omphalocele, Pancreatic fibrosis, Micromelia, Short neck, Craniosynostosis, Po... |
OMIM:200995 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Patent ductus arteriosus, Flexion contracture, Cardiomyopathy, Hig... |
OMIM:616866 |
| Dyssegmental Dysplasia, Silverman-Handmaker Type |
|
Bowing of the long bones, Micromelia, Anisospondyly, Micrognathia, Cryptorchidism, Short long bon... |
OMIM:224410 |
| Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Tibial bowing, Femoral bo... |
OMIM:223800 |
| Brachydactyly, Type B1 |
|
Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect... |
OMIM:113000 |
| Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
| Nphp3-Related Meckel-Like Syndrome |
|
Multicystic kidney dysplasia, Pulmonary hypoplasia, Intestinal malrotation |
ORPHA:3032 |
| Joubert Syndrome 18 |
|
Bowing of the long bones, Trident pelvis, Ventricular septal defect, Postaxial polydactyly, Kypho... |
OMIM:614815 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Sacral dimple, Ventricular septal defect, Short neck, Micrognathia, Long fingers, Paten... |
OMIM:615668 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Atrial septal defect, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Nephrocalcinosis... |
OMIM:618005 |
| Trisomy 17P |
|
Hypoplasia of penis, Urethral valve, Prominent metopic ridge, Talipes, Tapered finger, Short neck... |
ORPHA:261290 |
| 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypospadias, Ventricular septal defect, Congenital diaphragmatic hernia, Pulmonary artery stenosi... |
OMIM:611812 |
| Mucopolysaccharidosis, Type Ivb |
|
Epiphyseal deformities of tubular bones, Metaphyseal widening, Flaring of rib cage, Chondroitin s... |
OMIM:253010 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Tapered finger, Short toe, Cleft palate, Abnormal heart morphology, Anteri... |
OMIM:239300 |
| Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Esophageal atresia, Tracheoesophageal fistula |
OMIM:189960 |
| Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Atrial septal defect, Toe syndactyly, Hydroureter, Single transverse palmar crease, Bicuspid aort... |
OMIM:300707 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Broad hallux, Sandal gap, Bicuspid aortic valve, Cleft soft palate, ... |
OMIM:618529 |
| Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Overlapping toe, Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, ... |
OMIM:614262 |
| Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures |
ORPHA:94090 |
| Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Short neck, Micrognathia, Pectus carinatum, Vertebral segmentation defect, A... |
ORPHA:1507 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Hypercalcemia |
OMIM:191420 |
| Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Broad uvula... |
OMIM:614816 |
| Holzgreve Syndrome |
|
Hand polydactyly, Hypoplastic left heart, Renal hypoplasia, Cleft palate |
OMIM:236110 |
| Chromosome 2Q35 Duplication Syndrome |
|
Distal symphalangism of hands, 3-4 finger syndactyly, 2-3 toe syndactyly, Cutaneous syndactyly |
OMIM:185900 |
| Fg Syndrome Type 1 |
|
Finger syndactyly, Limited elbow extension and supination, Broad toe, Hypospadias, Single transve... |
ORPHA:93932 |
| Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Irregular vertebral endplates, Narrow greater sciatic notch, Hypoplastic iliac wing, Lumbar hyper... |
OMIM:609616 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Decreased palmar creases, Micrognathia, Kyphosis, Cryptorchidism, Abnormal foot ... |
ORPHA:352490 |
| Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
| 15Q11Q13 Microduplication Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly |
ORPHA:238446 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Aplastic clavicle, Micromelia, Short neck, Hamartoma of tongue, Congenital... |
OMIM:616546 |
| Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir... |
OMIM:154400 |
| Oeis Complex |
|
Congenital hip dislocation, Epispadias, Hemivertebrae, Anteriorly placed anus, Duplicated colon, ... |
OMIM:258040 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Absent ga... |
ORPHA:3186 |
| Endove Syndrome, Limb-Only Type |
|
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti... |
OMIM:619217 |
| Fanconi Anemia, Complementation Group F |
|
Sacral dimple, Pneumonia, Decreased response to growth hormone stimulation test, Absent thumb, Sh... |
OMIM:603467 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Broad hallux, Hypospadias, Tapered finger, Pectus excavatum, Long fingers, Short t... |
OMIM:618659 |
| Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Atrial septal defect, Overlapping toe, Ventricular septal defect, Patent ductus arteriosus, Clino... |
OMIM:618974 |
| Juberg-Hayward Syndrome |
|
Toe syndactyly, Hypospadias, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, A... |
ORPHA:2319 |
| Omphalocele |
|
Omphalocele |
ORPHA:660 |
| Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Short neck, Micrognathia, M... |
OMIM:245600 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
| Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
| Schuurs-Hoeijmakers Syndrome |
|
Pes planus, Bicuspid aortic valve, Cryptorchidism, Patent ductus arteriosus, Large hands, Abnorma... |
OMIM:615009 |
| Anaplastic Thyroid Carcinoma |
|
Laryngotracheal stenosis, Tracheoesophageal fistula, Lymphadenopathy, Neoplasm of the lung, Dysph... |
ORPHA:142 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
| Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s... |
OMIM:212093 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Feingold Syndrome |
|
Hallux valgus, Toe syndactyly, Micrognathia, Esophageal atresia, Patent ductus arteriosus, Abnorm... |
ORPHA:1305 |
| Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand polydactyly, Renal ... |
OMIM:603194 |
| Bile Acid Synthesis Defect, Congenital, 1 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Rickets, Steatorrhea, Hypocholesterole... |
OMIM:607765 |
| Mitochondrial Complex I Deficiency, Nuclear Type 35 |
|
Cardiomyopathy, Pulmonary hypoplasia, Elevated urinary 4-hydroxybutyric acid, Lacticaciduria |
OMIM:619003 |
| Hypochondroplasia |
|
Bowing of the long bones, Brachydactyly, Micromelia, Hyperlordosis, Short toe, Abnormality of the... |
ORPHA:429 |
| Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Atrial septal defect, Aplasia of th... |
ORPHA:2369 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Single transverse palmar crease, Short neck, Micrognathia, High palate, At... |
OMIM:612474 |
| Okamoto Syndrome |
|
Urinary incontinence, Primum atrial septal defect, Gastroesophageal reflux, Exaggerated median to... |
ORPHA:2729 |
| Bardet-Biedl Syndrome 8 |
|
Situs inversus totalis, Hypospadias, Postaxial polydactyly |
OMIM:615985 |
| Patella Aplasia-Hypoplasia |
|
Patellar aplasia, Patellar hypoplasia |
OMIM:168860 |
| Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Ventricular septal defect, Elevated circulating creatine kinase concentration, Smal... |
ORPHA:26793 |
| Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Omphalocele, Ventricular septal defect, Diastasis recti, Abnormal heart morphology, Umbilical hernia |
ORPHA:254534 |
| Roifman Syndrome |
|
Hip contracture, Short metacarpal, Noncompaction cardiomyopathy, Ventricular septal defect, Singl... |
OMIM:616651 |
| 22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... |
ORPHA:1727 |
| Hajdu-Cheney Syndrome |
|
Short neck, Absent frontal sinuses, Micrognathia, Pectus carinatum, Hernia, Partial absence of to... |
ORPHA:955 |
| Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Renal cyst, Tibial bowing, Anteriorly pla... |
ORPHA:798 |
| Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, Single transverse palmar crease, High, narrow palate, Tubulointerstitial n... |
OMIM:218330 |
| Autosomal Dominant Hypophosphatemic Rickets |
|
Osteomalacia, Rickets, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
| De Barsy Syndrome |
|
Congenital hip dislocation, Prominent veins on trunk, Coxa vara, Talipes calcaneovalgus, High pal... |
ORPHA:2962 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Toe syndactyly, Bifid distal phalanx of the thumb, Capitate-hamate fusion, Sho... |
OMIM:102510 |
| Restrictive Dermopathy |
|
Ureteral duplication, Multiple joint contractures, Micrognathia, Structural foot deformity, Atria... |
ORPHA:1662 |
| Cooper-Jabs Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Co... |
ORPHA:1488 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, Short neck, Bilateral cryptorchidism, High, narrow palate, Preax... |
OMIM:614976 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Pancytopenia, Ventricular septal defect, Postaxial polydactyly, Unilateral renal agenesis, Spleno... |
OMIM:614576 |
| Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemi... |
ORPHA:36913 |
| Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Tibi... |
ORPHA:175 |
| Pagod Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Multicystic kidney dysplasia, Spina bifida, Congenital... |
ORPHA:991 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Omphalocele, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Diastas... |
ORPHA:254528 |
| Hajdu-Cheney Syndrome |
|
Short neck, Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Dislocated radial head... |
OMIM:102500 |
| Mesomelic Dwarfism, Reinhardt-Pfeiffer Type |
|
Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi... |
ORPHA:2634 |
| Non-Syndromic Posterior Hypospadias |
|
Omphalocele, Congenital diaphragmatic hernia, Esophageal atresia, Ventral shortening of foreskin,... |
ORPHA:95706 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Micrognathia, Flexion contracture, High palate, Scapular winging,... |
OMIM:620369 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Dextrocardia, Cleft palate, Hand polydactyly, Foot polydactyly, Scoliosis,... |
ORPHA:220493 |
| Weaver Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Calcaneovalgus deformity, Hypoplastic i... |
OMIM:277590 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Abnormality of neutrophils, Microg... |
ORPHA:235 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Knee dislocation, Shoulder dislocat... |
OMIM:618000 |
| Thoracomelic Dysplasia |
|
Short neck, Elbow dislocation, Hyperlordosis, Abnormal fibula morphology, Genu valgum, Bell-shape... |
ORPHA:1803 |
| Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
| Beta-Mercaptolactate Cysteine Disulfiduria |
|
Sandal gap, Arachnodactyly, Micromelia, Abnormality of the ureter, Genu valgum, High palate, Atri... |
ORPHA:1035 |
| Bent Bone Dysplasia Syndrome 2 |
|
Atrial septal defect, Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femor... |
OMIM:620076 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Ciliary dyskinesia |
ORPHA:1882 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Eiken Syndrome |
|
Broad femoral neck, Delayed epiphyseal ossification, Fibular hypoplasia, Flat acetabular roof, Fl... |
OMIM:600002 |
| Blepharocheilodontic Syndrome 1 |
|
Clinodactyly, Anal atresia, Cutaneous syndactyly |
OMIM:119580 |
| Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Postax... |
ORPHA:2519 |
| Fetal Minoxidil Syndrome |
|
Clinodactyly of the 5th finger, Umbilical hernia, Ventricular septal defect |
ORPHA:1918 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Calcaneovalgus deformity, Absent phalangeal crease, High pala... |
ORPHA:230851 |
| Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Bone cyst, Osteolysis, Hypocalcemia, Hypophosphatemia, Abnormal bone structure, Coa... |
ORPHA:93160 |
| Hyperparathyroidism, Transient Neonatal |
|
Hyperparathyroidism, Short femur, Wide cranial sutures, Metaphyseal spurs, Unilateral renal agene... |
OMIM:618188 |
| Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
| Weismann-Netter Syndrome |
|
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
| Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
| Fixed Subaortic Stenosis |
|
Orthopnea, Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Dyspnea, Patent ductus... |
ORPHA:3092 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Omphalocele, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Talipes, Micrognathia, Cry... |
ORPHA:2166 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Kyphos... |
ORPHA:583 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Coxa var... |
OMIM:608940 |
| 20Q13.33 Microdeletion Syndrome |
|
Hallux valgus, Pes planus, Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Tapered ... |
ORPHA:261311 |
| Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Lower li... |
ORPHA:2063 |
| Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Atrial septal defect, Rhizomelia, Ulnar deviation of the wrist, Elbow contracture, Pectus excavat... |
OMIM:618162 |
| Aortic Arch Interruption |
|
Respiratory distress, Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus,... |
ORPHA:2299 |
| Myoectodermal Gonadal Dysgenesis Syndrome |
|
Accessory spleen, Omphalocele, Single transverse palmar crease, Unilateral renal agenesis, Bifid ... |
OMIM:618419 |
| Verloove Vanhorick-Brubakk Syndrome |
|
Finger syndactyly, Tarsal synostosis, Micrognathia, Cryptorchidism, Abnormality of the parathyroi... |
ORPHA:3429 |
| Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
| Pseudoachondroplasia |
|
Genu recurvatum, Spatulate ribs, Metaphyseal widening, Delayed epiphyseal ossification, Osteoarth... |
OMIM:177170 |
| Kniest Dysplasia |
|
Enlarged joints, Short neck, Delayed epiphyseal ossification, Coxa vara, Tibial bowing, Genu varu... |
OMIM:156550 |
| Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Pulmonary hypoplasia, Abnormal renal corticome... |
OMIM:616733 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Flexion contracture, Atrial septal defect, Contracture of the proxi... |
OMIM:300166 |
| 8P23.1 Duplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot, Hydronephrosis |
ORPHA:251076 |
| Wiedemann-Steiner Syndrome |
|
Atrial septal defect, Sacral dimple, Pes planus, Tapered finger, Micrognathia, Contracture of the... |
OMIM:605130 |
| Tracheal Agenesis |
|
Aplasia/Hypoplasia of the lungs, Abnormal cardiac septum morphology, Tracheal atresia |
ORPHA:3346 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Tethered cord, Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Coarctati... |
OMIM:618164 |
| Fibular Aplasia-Complex Brachydactyly Syndrome |
|
Abnormal morphology of the radius, Brachydactyly, Tarsal synostosis, Micromelia, Aplasia/Hypoplas... |
ORPHA:2639 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, High palate, Clinodactyly o... |
OMIM:268305 |
| Severe Congenital Nemaline Myopathy |
|
Hypospadias, Increased connective tissue, Abnormal thorax morphology, Flexion contracture, Thin r... |
ORPHA:171430 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Intestinal malrotation, Proteinuria, Congenital diaphragm... |
OMIM:222448 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Micrognathia, Patent ductus arteriosus... |
ORPHA:2547 |
| Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia |
|
Ciliary dyskinesia |
OMIM:225050 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, S... |
OMIM:213980 |
| Ivic Syndrome |
|
Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s... |
ORPHA:2307 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Sandal gap, Pectus excavatum, Short toe, Prominent sternum, Perimembranous vent... |
OMIM:617877 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Anal atresia, Bicuspid aortic valve, Horseshoe kidney |
OMIM:619318 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Pes planus, Hypospadias, Tapered finger, Cryptorchidism, Patent ductus arteriosus, Recurrent pneu... |
OMIM:619293 |
| Periventricular Nodular Heterotopia 1 |
|
Syndactyly, Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short f... |
OMIM:300049 |
| Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Dextrocardia, Supernumerary nipple, Cryptorchidism, Micropenis, Coarctation of aorta, High palate... |
OMIM:618929 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Inguinal hernia, Rhizomelia, Micrognathia, Submucous cleft hard palate, Flexion co... |
OMIM:222765 |
| Achondrogenesis Type 1B |
|
Femoral hernia, Micromelia, Short neck, Micrognathia, Short thorax, Abnormal rib morphology, Shor... |
ORPHA:93298 |
| Tarp Syndrome |
|
Single transverse palmar crease, Micrognathia, Glossoptosis, High palate, Atrial septal defect, D... |
OMIM:311900 |
| Distal Duplication 5Q |
|
Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Absent thumb, Micro... |
ORPHA:96097 |
| Tetrasomy 5P |
|
Recurrent respiratory infections, Pericallosal lipoma, Overlapping toe, Short hallux, Short neck,... |
ORPHA:3309 |
| Radial Aplasia, X-Linked |
|
Absent radius, Penile hypospadias, Anal atresia |
OMIM:312190 |
| Loeys-Dietz Syndrome 5 |
|
Osteoarthritis, Pectus carinatum, High palate, Atrial septal defect, Bilateral coxa valga, Patent... |
OMIM:615582 |
| Syndactyly, Type V |
|
Brachydactyly, Camptodactyly of finger, 4-5 toe syndactyly, 4-5 metacarpal synostosis, Enlarged p... |
OMIM:186300 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Perimembranous ventricula... |
OMIM:608104 |
| Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Single transverse palmar crease, Coxa valga, Pectus ... |
OMIM:617425 |
| Lujan-Fryns Syndrome |
|
Macroorchidism, Arachnodactyly, Camptodactyly of finger, Micrognathia, Pectus excavatum, High pal... |
ORPHA:776 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Hypoplasia of penis, Micromelia, Micrognathia, Renal cyst, Narrow chest, Absent or minimally ossi... |
ORPHA:93271 |
| Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Atrial septal defect, Ventricular septal defec... |
OMIM:220500 |
| Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Abdominal aortic aneurysm, Bi... |
ORPHA:284984 |
| Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Patent ductus arteriosus, Short toe, Widely spaced toes, Aortic r... |
ORPHA:404443 |
| Blue Diaper Syndrome |
|
Abnormal circulating tryptophan concentration, Hypercalcemia |
OMIM:211000 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Ventricular septal defect, Intestinal malrotation, Craniosynostosis, Cryptorch... |
ORPHA:457193 |
| Chops Syndrome |
|
Ventricular septal defect, Tracheomalacia, High, narrow palate, Patent ductus arteriosus, Cryptor... |
OMIM:616368 |
| Intellectual Disability-Strabismus Syndrome |
|
Hypospadias, Rocker bottom foot, Decreased response to growth hormone stimulation test, Short nec... |
ORPHA:363528 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Micrognathia, Kyphosis, Interstitial emphysema, Bronchiectasis, Knee flexion contracture, Inflamm... |
OMIM:619708 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Patent foramen ovale, Transposition of the great arteries |
OMIM:616789 |
| Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Atrial septal defect, Ventricular septal defect, Scoliosis |
OMIM:608227 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Thin bony cortex, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcemia,... |
OMIM:264700 |
| Gm1-Gangliosidosis, Type Ii |
|
Coxa valga, Thoracolumbar kyphosis, Protruding tongue, Patent ductus arteriosus, Splenomegaly, Hy... |
OMIM:230600 |
| Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Ankle flexion contracture, Micrognathia, High, narrow palate, Patent ductus arteriosu... |
OMIM:608799 |
| Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Short middle phalanx of finger, Anal atresia |
OMIM:309620 |
| Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Aplasia/Hypoplasia of toe, Syndactyly, Duplication of metatarsal bones, Cutaneous finger syndactyly |
OMIM:600384 |
| Osteopetrosis, Autosomal Recessive 1 |
|
Hepatomegaly, Increased bone mineral density, Craniosynostosis, Splenomegaly, Hypocalcemia, Osteo... |
OMIM:259700 |
| Abruzzo-Erickson Syndrome |
|
Toe syndactyly, Hypospadias, Coronal hypospadias, Short toe, Cryptorchidism, Cleft palate, Ulnar ... |
ORPHA:921 |
| Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr... |
ORPHA:1909 |
| Hyperparathyroidism 4 |
|
Osteopenia, Hypercalcemia |
OMIM:617343 |
| Treacher-Collins Syndrome |
|
Hypoplasia of penis, Abnormal dental enamel morphology, Micrognathia, Cryptorchidism, Patent duct... |
ORPHA:861 |
| Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
| Lessel-Kreienkamp Syndrome |
|
Atrial septal defect, Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, Gast... |
OMIM:619149 |
| Pelger-Huet Anomaly |
|
Ventricular septal defect, Abnormality of neutrophils, Kyphosis, Hyposegmentation of neutrophil n... |
OMIM:169400 |
| Fibular Aplasia-Ectrodactyly Syndrome |
|
Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula |
ORPHA:1118 |
| Smith-Lemli-Opitz Syndrome |
|
Micromelia, Proximal placement of thumb, Micrognathia, 2-3 toe cutaneous syndactyly, Gastrointest... |
OMIM:270400 |
| Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany |
OMIM:612462 |
| Weill-Marchesani Syndrome 2 |
|
Short metatarsal, High palate, Broad ribs, Broad metacarpals, Short metacarpal, Lumbar hyperlordo... |
OMIM:608328 |
| Ulna Metaphyseal Dysplasia Syndrome |
|
Abnormal morphology of ulna, Nephrolithiasis, Abnormal fibula morphology, Abnormal form of the ve... |
ORPHA:1837 |
| Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Ulnar deviation of the hand, Ventricular septal defect, Proximal placement of thumb, Patent foram... |
OMIM:620113 |
| Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
| Sotos Syndrome |
|
Pes planus, Ventricular septal defect, High, narrow palate, Patent ductus arteriosus, Long metaca... |
OMIM:117550 |
| Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Rhizomelia, Iliac ... |
ORPHA:239 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Metaphyseal widening, Delayed ep... |
ORPHA:93314 |
| Mirage Syndrome |
|
Hypospadias, Rocker bottom foot, Radial club hand, Patent ductus arteriosus, Esophageal stricture... |
OMIM:617053 |
| Braddock-Carey Syndrome 1 |
|
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyperlordosis, Sm... |
OMIM:619980 |
| Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Ventricular septal defect, Patent ductus arteriosus, Broad palm, Spinal can... |
OMIM:277600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Arachnodactyly, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Pectus carinatum, Ao... |
OMIM:301039 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Obesity, Craniosynostosis, Cardiomegaly |
ORPHA:88643 |
| Autosomal Recessive Amelia |
|
Hypoplasia of penis, Micrognathia, Cryptorchidism, Aplasia/Hypoplasia of the lungs, Abnormal card... |
ORPHA:1027 |
| Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Increased HDL cholesterol concentration, Hypercholesterolemia, Hypotriglyceridemi... |
ORPHA:79506 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Renal cyst, Brachydactyly |
OMIM:615982 |
| Mucopolysaccharidosis Type 4 |
|
Joint dislocation, Bowing of the long bones, Abnormal heart valve morphology, Abnormal dental ena... |
ORPHA:582 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
| Hypobetalipoproteinemia, Familial, 1 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Decreased LDL cholesterol concentr... |
OMIM:615558 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Short neck, Micrognathia, Short palm, Clinodactyly of the 5th finger, Micropenis, Broad hallux, C... |
OMIM:620073 |
| Toxic Epidermal Necrolysis |
|
Gastrointestinal hemorrhage, Recurrent respiratory infections, Renal insufficiency, Dysuria, Abno... |
ORPHA:537 |
| Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Talipes, Abnormality of the humerus, Abnormal rib mor... |
ORPHA:1836 |
| Microcephaly-Cardiomyopathy Syndrome |
|
Ventricular septal defect, Sandal gap, High, narrow palate, Dilated cardiomyopathy, Clinodactyly ... |
ORPHA:2515 |
| Martinez-Frias Syndrome |
|
Intestinal hypoplasia, Jejunal atresia, Hypospadias, Intestinal malrotation, Tracheoesophageal fi... |
OMIM:601346 |
| Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Capitate-hamat... |
OMIM:271650 |
| Adamantinoma |
|
Hypercalcemia |
ORPHA:55881 |
| Kinsship Syndrome |
|
Pes planus, Sacral dimple, Single transverse palmar crease, Coxa valga, Short neck, Micrognathia,... |
OMIM:619297 |
| Solitary Bone Cyst |
|
Back pain, Abnormal tibia morphology, Abnormal spinal cord morphology, Abnormal form of the verte... |
ORPHA:83468 |
| Noonan Syndrome 8 |
|
Atrial septal defect, Ventricular septal defect, Short neck, Cryptorchidism, Patent ductus arteri... |
OMIM:615355 |
| Noonan Syndrome 2 |
|
Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, High palate, Atrial sept... |
OMIM:605275 |
| Opitz-Kaveggia Syndrome |
|
Syndactyly, Anal stenosis, Broad hallux, Single transverse palmar crease, Hypospadias, Intestinal... |
OMIM:305450 |
| Gaucher Disease, Type Ii |
|
Gastroesophageal reflux, Double aortic arch, Dysphagia |
OMIM:230900 |
| Coffin-Siris Syndrome 6 |
|
Wormian bones, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate, Cleft palate,... |
OMIM:617808 |
| Achondrogenesis Type 1A |
|
Multiple rib fractures, Femoral hernia, Micromelia, Short neck, Micrognathia, Short thorax, Short... |
ORPHA:93299 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Single transverse palmar crease, Proximal placement of thumb, Limited elbo... |
OMIM:610759 |
| Chondrodysplasia, Blomstrand Type |
|
Micromelia, Micrognathia, Squared iliac bones, Flared metaphysis, Advanced ossification of carpal... |
OMIM:215045 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Single transverse palmar crease, Micrognathia, Biliary hyperplasia, Mic... |
ORPHA:83617 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Syndactyly, Osteolysis involving bones of the upper limbs, Short thorax, Osteolysis involving bon... |
ORPHA:88630 |
| Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Radial bowing, Rhizomelia, Sandal gap, Cervical kyphosis, Short nec... |
OMIM:108721 |
| Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy |
|
Atrial septal defect, Ventricular septal defect |
OMIM:614249 |
| Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 9 |
|
Bilateral talipes equinovarus, Pulmonary hypoplasia |
OMIM:618174 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Atrial septal defect, Pes planus, Prominent metopic ridge, Arachnodactyly, Bicuspid aortic valve,... |
OMIM:619721 |
| Peutz-Jeghers Syndrome |
|
Abnormality of the gastrointestinal tract, Gastrointestinal hemorrhage, Intestinal obstruction, P... |
ORPHA:2869 |
| Classical Ehlers-Danlos Syndrome |
|
Incisional hernia, Rectal prolapse, Osteoarthritis, Shoulder dislocation, Gastroesophageal reflux... |
ORPHA:287 |
| Noonan Syndrome 10 |
|
Atrial septal defect, Ventricular septal defect, Short neck, Pectus excavatum, Cryptorchidism, Pa... |
OMIM:616564 |
| Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Sacral dimple, Overlapping toe, Down-sloping shoulders, Ventricular septal defect, Tapered finger... |
OMIM:617452 |
| Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Renal insufficiency, Toe syndactyly, Mitral atresia, Ectopic kidney, Pulmonary artery stenosis, H... |
ORPHA:140952 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Osteoarthritis, Flared me... |
OMIM:602111 |
| Chromosome 15Q14 Deletion Syndrome |
|
Atrial septal defect, Recurrent viral upper respiratory tract infections, Ventricular septal defe... |
OMIM:616898 |
| Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Pectus excavatum, Delayed epiphyseal ossification, Genu valgum, Cutaneous syndactyly, Clinodactyl... |
ORPHA:166024 |
| 8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Sacral dimple, Hypoplasia of penis, Micrognathia, Cryptorchidism, Patent ductus... |
ORPHA:251066 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Recurrent respiratory infections, Increased connective tissue, High palate, Pulmonary hypoplasia,... |
OMIM:255320 |
| Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
| Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Hypospadias, Dextrocardia, Malabsorption, Anteriorly placed anus, Abnormal c... |
ORPHA:2315 |
| Nephronophthisis 2 |
|
Absence of renal corticomedullary differentiation, Situs inversus totalis, Stage 5 chronic kidney... |
OMIM:602088 |
| Pulmonary Hypoplasia, Primary |
|
Pulmonary hypoplasia |
OMIM:265430 |
| Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Thoracolumbar ky... |
OMIM:618853 |
| Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Ventricular septal defect, Hypospadias, Bicuspid aortic valve, Patent ductus arteriosus, Recurren... |
OMIM:617751 |
| Renal Hypodysplasia/Aplasia 4 |
|
Pulmonary hypoplasia |
OMIM:619887 |
| Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Kyphoscoliosis, Lower limb asymmetry, Osteoarthritis, Abnorma... |
ORPHA:85198 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Abnormality of the gastrointestinal tract, Multicystic kidney dysplasia, Hydroureter... |
ORPHA:2241 |
| Ectodermal Dysplasia, Ectrodactyly, And Macular Dystrophy Syndrome |
|
2-4 finger syndactyly, 1-4 finger syndactyly, Split hand, 2-3 finger syndactyly, Camptodactyly, J... |
OMIM:225280 |
| Cartilage-Hair Hypoplasia |
|
Metaphyseal widening, Coxa vara, Femoral bowing, Narrow chest, Neutropenia, Short palm, Lumbar hy... |
OMIM:250250 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Patent ductus arteriosu... |
OMIM:615398 |
| Renal Hypodysplasia/Aplasia 2 |
|
Pulmonary hypoplasia |
OMIM:615721 |
| Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow... |
OMIM:105650 |
| Char Syndrome |
|
Clinodactyly of the 5th finger, Patent ductus arteriosus, Distal/middle symphalangism of 5th finger |
OMIM:169100 |
| Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, S... |
OMIM:300855 |
| Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Sandal gap, Ventricular septal defect, Postaxial polydactyly, H... |
OMIM:174300 |
| Fanconi Anemia, Complementation Group D1 |
|
Short thumb, Anal atresia |
OMIM:605724 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, High, narrow palate, Pectus carinatum, Male urethral meatus sten... |
ORPHA:464738 |
| Omphalocele, X-Linked |
|
Omphalocele |
OMIM:310980 |
| Omphalocele, Autosomal |
|
Omphalocele |
OMIM:164750 |
| Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Abnormal rib morphology, Abnormal form of the vertebral bodies, Clavicu... |
ORPHA:2790 |
| Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Anal atresia |
OMIM:227260 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Finger syndactyly, Atrial septal defect, Ventricular septal defect, Ectopic kidney, ... |
ORPHA:1519 |
| Meckel Syndrome, Type 8 |
|
Pericardial effusion, Cleft palate, Polydactyly, Narrow chest, Talipes equinovarus, Polycystic ki... |
OMIM:613885 |
| Hypothyroidism, Congenital, Nongoitrous, 4 |
|
Omphalocele, Macroglossia, Umbilical hernia |
OMIM:275100 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Recurrent respiratory infections, Pes cavus, Overlapping toe, Mitral stenosis, Ventricular septal... |
ORPHA:163956 |
| Brachydactyly Type B |
|
Type B brachydactyly, Finger syndactyly, Short metacarpal, 2nd-5th toe middle phalangeal hypoplas... |
ORPHA:93383 |
| Inverted Duplicated Chromosome 15 Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, 2-3 toe syndactyly, High pa... |
ORPHA:3306 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
| Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
|
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
| Osteofibrous Dysplasia, Susceptibility To |
|
Pectus excavatum, Pseudoarthrosis, Fibular hypoplasia |
OMIM:607278 |
| Aortic Aneurysm, Familial Thoracic 9 |
|
Arachnodactyly, Thoracic aortic aneurysm, Pectus excavatum, Mitral valve prolapse, Pectus carinat... |
OMIM:616166 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Short neck, High palate, Narrow chest, Gastroesophageal reflux, Atrial septal defect, Recurrent a... |
ORPHA:280633 |
| Neuronal Intestinal Pseudoobstruction |
|
Patent ductus arteriosus, Abnormal cardiac septum morphology, Congenital diaphragmatic hernia, Ma... |
ORPHA:99811 |
| Pontocerebellar Hypoplasia, Type 11 |
|
Talipes equinovarus, Anal atresia, Dysphagia |
OMIM:617695 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormal toe morphology, Abnormal carpal morphology, Horseshoe k... |
OMIM:216100 |
| Suleiman-El-Hattab Syndrome |
|
Microretrognathia, Recurrent respiratory infections, Inguinal hernia, Ventricular septal defect, ... |
OMIM:618950 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Palmoplantar hyperkeratosis, Clinodactyly of the 5th finger, Pulmonary artery stenosis, Acute lym... |
OMIM:280000 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Thin bony cortex, Osteomalacia, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae,... |
ORPHA:289157 |
| Megalencephaly |
|
Macroorchidism, Short neck, Long penis, Genu valgum, Atrial septal defect |
ORPHA:2477 |
| Meckel Syndrome 14 |
|
Microretrognathia, Syndactyly, Bowing of the long bones, Talipes, Postaxial polydactyly, Short ne... |
OMIM:619879 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Glossoptosis, Barrel-shaped chest, A... |
ORPHA:94068 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Pectus excavatum, High, narrow pal... |
ORPHA:957 |
| Craniofacial Microsomia 1 |
|
Multicystic kidney dysplasia, Ventricular septal defect, Block vertebrae, Ectopic kidney, Microgn... |
OMIM:164210 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short neck, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Cleft ... |
ORPHA:3338 |
| Alagille Syndrome |
|
Hypoplasia of the ulna, Atrial septal defect, Ventricular septal defect, Butterfly vertebral arch... |
ORPHA:52 |
| Chromosome 6Q24-Q25 Deletion Syndrome |
|
Atrial septal defect, Sandal gap, High, narrow palate, Patent ductus arteriosus, Dysplastic tricu... |
OMIM:612863 |
| Galloway-Mowat Syndrome 7 |
|
Hallux valgus, Diffuse mesangial sclerosis, Arachnodactyly, Single transverse palmar crease, Vent... |
OMIM:618348 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Anorexia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:175500 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Abnormal hand morphology, Metaphyseal widening, Flexion contract... |
ORPHA:93307 |
| Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
3-Methylglutaconic aciduria, Pulmonary hypoplasia |
OMIM:615228 |
| Diabetes Mellitus, Permanent Neonatal, 4 |
|
Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, Diabetic ketoacidosi... |
OMIM:618858 |
| Van Maldergem Syndrome 1 |
|
Short fourth metatarsal, Hypospadias, Tracheomalacia, Renal hypoplasia, Anteriorly placed anus, C... |
OMIM:601390 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Tracheomalacia, Tapered finger, Abnormal heart morphology, Gastroesophageal reflux, Vesicouretera... |
ORPHA:261652 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
| Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly |
|
Ventricular septal defect, Lateral clavicle hook, Splenomegaly, Postaxial hand polydactyly, Chron... |
OMIM:615630 |
| Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly |
|
Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu... |
OMIM:119800 |
| Rhizomelic Limb Shortening With Dysmorphic Features |
|
Hyperextensibility of the finger joints, Rhizomelia, Single transverse palmar crease, Short neck,... |
OMIM:618821 |
| Sonoda Syndrome |
|
Ventricular septal defect |
OMIM:270460 |
| Lethal Congenital Contracture Syndrome 1 |
|
Micrognathia, Paucity of anterior horn motor neurons, Abnormal thorax morphology, Pulmonary hypop... |
OMIM:253310 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Abnormal cardiac ventricle morphology, Patent ductus arte... |
ORPHA:2306 |
| 3M Syndrome |
|
Congenital hip dislocation, Micromelia, Abnormal cerebral vascular morphology, Short neck, Increa... |
ORPHA:2616 |
| White Forelock With Malformations |
|
Finger syndactyly, Atrial septal defect, Abnormal rib morphology, Clinodactyly of the 5th finger,... |
ORPHA:2475 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
| Peroxisome Biogenesis Disorder 8A (Zellweger) |
|
Epiphyseal stippling, Glossoptosis, Ventricular septal defect |
OMIM:614876 |
| Shashi-Pena Syndrome |
|
Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Kyphosis, Patent d... |
OMIM:617190 |
| Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia st... |
OMIM:305600 |
| Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Microcytic anemia, Venous insuffic... |
ORPHA:90308 |
| Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
| Anauxetic Dysplasia 1 |
|
Short neck, Thoracic kyphosis, Short palm, Cervical cord compression, Barrel-shaped chest, Lumbar... |
OMIM:607095 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the legs, Short neck, Microg... |
OMIM:255800 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Ventricular septal defect, Micrognathia, Metatarsus adductus, Osteopathia striata, Cleft palate, ... |
ORPHA:513456 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Hypoplasia of penis, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia ... |
ORPHA:3082 |
| Non-Syndromic Metopic Craniosynostosis |
|
Omphalocele |
ORPHA:3366 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Situs inversus totalis, Aspleni... |
OMIM:208540 |
| Congenital Myopathy 17 |
|
Ureteropelvic junction obstruction, Overlapping toe, Tapered finger, Pectus excavatum, Respirator... |
OMIM:618975 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
| Neurooculorenal Syndrome |
|
Ectopic posterior pituitary, Dextrocardia, Short hallux, Unilateral renal agenesis, Intestinal ma... |
OMIM:620305 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor... |
OMIM:614954 |
| Kenny-Caffey Syndrome, Type 1 |
|
Decreased skull ossification, Calvarial osteosclerosis, Hypocalcemia, Hypomagnesemia |
OMIM:244460 |
| Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypoparathyroidism, Craniosynostosis, Micrognathia, Pectus excavatum, High, narrow palate, Patent... |
ORPHA:369837 |
| Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
| Neu-Laxova Syndrome 1 |
|
Micromelia, Short neck, Micrognathia, Calcaneovalgus deformity, Pterygium, Patent foramen ovale, ... |
OMIM:256520 |
| Schneckenbecken Dysplasia |
|
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Adva... |
OMIM:269250 |
| Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
| Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
|
Hyperextensibility of the finger joints, Sacral dimple, Toe syndactyly, Arachnodactyly, Overlappi... |
ORPHA:505237 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of the abdominal wall muscul... |
OMIM:612289 |
| Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaphyseal cupping of metacarp... |
OMIM:300232 |
| Isolated Osteopoikilosis |
|
Syndactyly, Abnormally ossified vertebrae, Abnormal pelvis bone morphology, Sclerotic scapulae, A... |
ORPHA:166119 |
| Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Micrognathia, Spinal cord compression, Flared metaphysis, Hypoplas... |
ORPHA:93346 |
| Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Triphalangeal thumb, Atrial septal d... |
ORPHA:857 |
| Temple-Baraitser Syndrome |
|
Broad hallux, Proximal placement of thumb, Adducted thumb, Broad thumb, Gastroesophageal reflux, ... |
OMIM:611816 |
| Septopreoptic Holoprosencephaly |
|
Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Dysphagia, Anterior hypopi... |
ORPHA:280195 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Ventricular septal defect... |
ORPHA:46627 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Joint dislocation, Arthropathy, Genu recurvatum, Short neck, Flexion contracture, Tibial bowing, ... |
OMIM:143095 |
| Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Atrial septal defect, Broad ribs, Vertebral fusion, Pericardi... |
OMIM:139210 |
| Alg12-Cdg |
|
Proximal placement of thumb, Micrognathia, Gastroesophageal reflux, Clinodactyly of the 5th finge... |
ORPHA:79324 |
| Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Short femur, Cardiomegaly, Pneumothorax, Glandular hypospadias, Talipes equinovarus, Pulmonary hy... |
OMIM:620306 |
| 2Q31.1 Microdeletion Syndrome |
|
Short neck, Micrognathia, Abnormal tibia morphology, Vertebral segmentation defect, Short palm, A... |
ORPHA:251014 |
| Brachydactyly Type B2 |
|
Type B brachydactyly, Finger syndactyly, Short toe, Symphalangism affecting the phalanges of the ... |
ORPHA:140908 |
| Patent Ductus Arteriosus 3 |
|
Patent ductus arteriosus |
OMIM:617039 |
| Patent Ductus Arteriosus 1 |
|
Patent ductus arteriosus |
OMIM:607411 |
| Iniencephaly |
|
Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Hyperlordosis, Congenital diaphragmati... |
ORPHA:63259 |
| Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ... |
ORPHA:584 |
| Type 1 Diabetes Mellitus |
|
Polydipsia, Diabetes mellitus, Decreased level of 1,5 anhydroglucitol in serum, Hyperglycemia, Po... |
OMIM:222100 |
| Seizures-Scoliosis-Macrocephaly Syndrome |
|
Overlapping toe, Cryptorchidism, Gastroesophageal reflux, Scoliosis, Atrial septal defect |
ORPHA:466926 |
| Otospondylomegaepiphyseal Dysplasia |
|
Enlarged joints, Short neck, Micrognathia, Osteoarthritis, Abnormal iliac wing morphology, Tibial... |
ORPHA:1427 |
| Holoprosencephaly 13, X-Linked |
|
Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Vertebral clefting, Submucous ... |
OMIM:301043 |
| Ring Chromosome 10 Syndrome |
|
Hypocalcemia, Cachexia |
ORPHA:1438 |
| Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Hiatus hernia, Patent ductus arteriosus, Recurrent upper respiratory t... |
OMIM:619769 |
| Absent Radius-Anogenital Anomalies Syndrome |
|
Hypoplasia of the radius, Rectal atresia, Perineal fistula, Ectrodactyly, Rectovaginal fistula, A... |
ORPHA:3016 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Sacral dimple, Ventricular septal defect, Rocker bottom foot, Proximal placeme... |
OMIM:619762 |
| Hydrolethalus Syndrome 1 |
|
Accessory spleen, Omphalocele, Ventricular septal defect, Hypospadias, Micrognathia, Preaxial han... |
OMIM:236680 |
| Trichohepatoneurodevelopmental Syndrome |
|
High palate, Narrow chest, Gastroesophageal reflux, Bilateral coxa valga, Clinodactyly of the 5th... |
OMIM:618268 |
| Frontometaphyseal Dysplasia 1 |
|
Limited elbow movement, Absent frontal sinuses, Knee flexion contracture, Increased density of lo... |
OMIM:305620 |
| Buratti-Harel Syndrome |
|
Atrial septal defect, Dilation of Virchow-Robin spaces, Broad hallux, Hypospadias, Cryptorchidism... |
OMIM:619314 |
| Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Syndactyly, Dilation of Virchow-Robin spaces, Cryptorchidism, ... |
OMIM:603671 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| 10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Tetralogy of Fallot, Abnormal rib morphology, Hypospadias |
ORPHA:276422 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Bicuspid aortic valve, Postaxial polydactyly |
OMIM:618955 |
| Bardet-Biedl Syndrome 16 |
|
Renal insufficiency, Polydactyly, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615993 |
| Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
| Say-Barber-Miller Syndrome |
|
Thoracic kyphoscoliosis, Craniosynostosis, Micrognathia, Cryptorchidism, Talipes equinovalgus, El... |
ORPHA:3132 |
| Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Preaxial hand polydactyly, P... |
OMIM:175700 |
| Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Bowing of the legs, Short neck, Metaphyseal widening, Delayed epiphyseal ossification, Abnormal v... |
ORPHA:93352 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Hypospadias, Kyphosi... |
OMIM:616449 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Dextrotransposition of the great arteries, Ankle clonus... |
OMIM:619995 |
| Distal Deletion 12Q |
|
Single transverse palmar crease, Short neck, Ectopic kidney, High, narrow palate, Micrognathia, A... |
ORPHA:96149 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Congeni... |
OMIM:601803 |
| Takenouchi-Kosaki Syndrome |
|
Inguinal hernia, Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unila... |
OMIM:616737 |
| Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the gallbladder, Her... |
ORPHA:2255 |
| 8Q12 Microduplication Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Short foot, Gastroesophageal reflux, Atrial sep... |
ORPHA:228399 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Hyperextensibility of the finger joints, Intracranial hemorrhage, Atrial septal defect, Micropeni... |
ORPHA:163979 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Micrognathia, Abnormality of the urethra, Craniosynostosis, Split ... |
ORPHA:2145 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Thoracic hypop... |
OMIM:617866 |
| Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Sandal gap, Congenital diaphragmatic hernia, Atrial septal defect, Tetra... |
OMIM:300887 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Hypospadias, Cryptorchidism, Absent pulmonary artery, Patent ductus ar... |
OMIM:600460 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Paresis of extensor muscles of the big toe, Abnormality of the hand, Hand muscle weakness, Abnorm... |
ORPHA:99947 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:613370 |
| Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Finger syndactyly, Arachnodactyly, Camptodactyly of finger, Cleft palate, Ectopic anus, Triphalan... |
ORPHA:2994 |
| Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
| Pallister-Hall Syndrome |
|
Ectopic kidney, Hemivertebrae, Abnormal lung lobation, Gonadotropin deficiency, Atrial septal def... |
ORPHA:672 |
| Zttk Syndrome |
|
Unilateral lung agenesis, Flexion contracture, Hemivertebrae, High palate, Atrial septal defect, ... |
OMIM:617140 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele |
ORPHA:1906 |
| Squalene Synthase Deficiency |
|
Bicuspid aortic valve, Failure to thrive in infancy, Increased circulating farnesol concentration... |
OMIM:618156 |
| Gillespie Syndrome |
|
Truncus arteriosus |
OMIM:206700 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Bicuspid aortic valve, Gastrointestinal dysmotility, Vertebral segmentation defect, High palate, ... |
ORPHA:453499 |
| Heart Defect-Tongue Hamartoma-Polysyndactyly Syndrome |
|
Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, 2-3 finger syndactyly, Subvalvular... |
ORPHA:1338 |
| Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Short neck, Missing ribs, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of the cervical spine... |
ORPHA:464311 |
| Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Single transverse palmar crease, Short neck, Micrognathia, Glossoptosis, Vert... |
OMIM:611209 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hamartoma of tongue, Pectus excavatum, Cleft palate, Lobul... |
OMIM:258860 |
| Kniest Dysplasia |
|
Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea... |
ORPHA:485 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Thoracic scoliosis, Widened atrophic scar, Equinus calcaneus, Micrognathia, Pr... |
ORPHA:536532 |
| Septo-Optic Dysplasia Spectrum |
|
Hypoplasia of penis, Anterior pituitary hypoplasia, Esophageal atresia, Cryptorchidism, Tracheoes... |
ORPHA:3157 |
| Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Preaxial hand polydactyly, Postaxial han... |
ORPHA:380 |
| Acromelic Frontonasal Dysplasia |
|
Anterior pituitary hypoplasia, Midline central nervous system lipomas, Cryptorchidism, Patellar h... |
ORPHA:1827 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
| Osteogenesis Imperfecta, Type X |
|
Thoracic scoliosis, Micromelia, Micrognathia, Tibial bowing, Narrow chest, Broad ribs, Rhizomelia... |
OMIM:613848 |
| Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the rectum, In... |
ORPHA:424019 |
| Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Diastasis recti, Kyphoscoliosis, Short neck, Coxa valga, Micrognath... |
ORPHA:254519 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... |
OMIM:619909 |
| Diphallia |
|
Ureteral duplication, Epispadias, Hemivertebrae, Duplicated colon, Atrial septal defect, Bladder ... |
ORPHA:227 |
| Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Short neck, Pectus excavatum, Hyperlordosis, Kyphosis,... |
ORPHA:2522 |
| Acrocallosal Syndrome |
|
High palate, Clinodactyly of the 5th finger, Micropenis, Bifid uvula, Finger syndactyly, Hypospad... |
OMIM:200990 |
| Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Coxa vara, Narrow greater sciatic notch,... |
OMIM:602557 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger syndactyly, Split ... |
DECIPHER:46 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Structural foot deformity, Renal cyst... |
ORPHA:464306 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Single transverse palmar cre... |
OMIM:300998 |
| Ruvalcaba Syndrome |
|
Short metacarpal, Inguinal hernia, Micromelia, Kyphosis, Cryptorchidism, Limited elbow extension,... |
OMIM:180870 |
| Codas Syndrome |
|
Short metacarpal, Congenital hip dislocation, Ventricular septal defect, Hydroureter, Abnormal de... |
ORPHA:1458 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Hypertriglyceridemia |
OMIM:615924 |
| Distal Xq28 Microduplication Syndrome |
|
Metatarsus adductus, Patent ductus arteriosus, Recurrent upper respiratory tract infections, High... |
ORPHA:293939 |
| Shox-Related Short Stature |
|
Short neck, Micrognathia, Madelung deformity, Tibial bowing, Short foot, Genu valgum, Forearm und... |
ORPHA:314795 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic left heart, Atrial... |
ORPHA:2248 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Celiac disease, Patent... |
ORPHA:284169 |
| Albers-Schönberg Osteopetrosis |
|
Generalized osteosclerosis, Hypocalcemia |
ORPHA:53 |
| Ellis-Van Creveld Syndrome |
|
Atrial septal defect, Hypospadias, Hypoplastic iliac wing, Capitate-hamate fusion, Postaxial hand... |
OMIM:225500 |
| Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Intestinal malrotation, Velopharyngeal insufficiency... |
OMIM:614701 |
| Martsolf Syndrome 1 |
|
Thoracic scoliosis, Micrognathia, Osteopathia striata, Pectus carinatum, High palate, Finger join... |
OMIM:212720 |
| Moebius Syndrome |
|
Short neck, Micrognathia, High palate, Lower limb undergrowth, Micropenis, Short phalanx of finge... |
OMIM:157900 |
| Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Hyperphosphatemia, Hypocalcemia... |
ORPHA:94089 |
| Weiss-Kruszka Syndrome |
|
Left ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Dextrotranspositi... |
OMIM:618619 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hernia, Atrial ... |
ORPHA:505248 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Increased skull ossification, Craniofacial osteosclerosis, Diaphyseal sclerosis, Osteopetrosis, H... |
OMIM:618476 |
| Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Bone cyst, Hypercalcemia |
ORPHA:2668 |
| Dandy-Walker Malformation With Postaxial Polydactyly |
|
Microretrognathia, Patent ductus arteriosus, Postaxial hand polydactyly, Aortic valve stenosis, V... |
OMIM:220220 |
| Noonan Syndrome 1 |
|
Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, Abnormal sternum... |
OMIM:163950 |
| Wolcott-Rallison Syndrome |
|
Metaphyseal dysplasia, Renal insufficiency, Chronic kidney disease, Iron deficiency anemia, Lymph... |
ORPHA:1667 |
| Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Genu recurvatum, Situs inversus totalis,... |
OMIM:609008 |
| Bladder Exstrophy |
|
Omphalocele, Hypoplasia of penis, Inguinal hernia, Intestinal malrotation, Epispadias, Abnormalit... |
ORPHA:93930 |
| Mmep Syndrome |
|
Cryptorchidism, Split foot, Ventricular septal defect, Triphalangeal thumb |
ORPHA:3434 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
11 pairs of ribs, Hypospadias, Oral-pharyngeal dysphagia, Cleft palate, Short long bone, Scoliosi... |
OMIM:619184 |
| 1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Hyposegmentation of neutrophil nuclei, Submucous... |
ORPHA:250999 |
| Maternal Uniparental Disomy Of Chromosome 2 |
|
Pes planus, Renal insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... |
ORPHA:96179 |
| Restrictive Dermopathy 1 |
|
Ureteral duplication, Hypospadias, Rocker bottom foot, Kyphoscoliosis, Micrognathia, Limb joint c... |
OMIM:275210 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Pes planus, Tapered finger, Short neck, Multiple joint dislocation, Hip d... |
OMIM:618395 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Pes planus, Rocker bottom foot, Urinary incontinence, Tapered finger, Pericardial effusion, Micro... |
OMIM:620070 |
| Mucopolysaccharidosis, Type X |
|
Beaking of vertebral bodies, Irregular acetabular roof, Thickened aortic valve cusp, Spatulate ri... |
OMIM:619698 |
| Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
| Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
| Familial Aortic Dissection |
|
Cardiomegaly, Descending thoracic aorta aneurysm, Patent ductus arteriosus, Mucoid extracellular ... |
ORPHA:229 |
| Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Prominent metopic ridge, Tapered... |
ORPHA:1272 |
| 15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Kyphosis, Cleft palate, Scoliosis, Atrial septal defect |
ORPHA:261190 |
| Ssr4-Cdg |
|
Abnormality of the gastrointestinal tract, Joint dislocation, Patent ductus arteriosus, Horseshoe... |
ORPHA:370927 |
| Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Micrognathia, Renal cyst, Bilateral superior vena cava with no bridging vei... |
OMIM:618460 |
| Nephronophthisis 14 |
|
Situs inversus totalis |
OMIM:614844 |
| Oligomeganephronia |
|
Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Unilateral renal agenesis, Congenit... |
ORPHA:2260 |
| Intellectual Developmental Disorder, Autosomal Recessive 79 |
|
Pes planus, Ventricular septal defect, Short hallux, Long fingers, Clinodactyly of the 5th finger... |
OMIM:620393 |
| Variant Abeta2M Amyloidosis |
|
Abnormal vascular morphology, Intestinal perforation, Spinal cord compression, Chronic kidney dis... |
ORPHA:314652 |
| Trigonocephaly With Short Stature And Developmental Delay |
|
Inguinal hernia, Ventricular septal defect, Sagittal craniosynostosis, High palate, Lambdoidal cr... |
OMIM:314320 |
| Noonan Syndrome 13 |
|
Pes planus, Prominent metopic ridge, Overlapping toe, Tapered finger, Metatarsus adductus, Short ... |
OMIM:619087 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Submucous cleft hard palate, Vesicoureteral reflux, Renal hypoplasia, Spinal dysra... |
OMIM:617660 |
| Acromesomelic Dysplasia, Hunter-Thompson Type |
|
Short metacarpal, Brachydactyly, Tarsal synostosis, Cuboidal metacarpal, Elbow dislocation, Short... |
ORPHA:968 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Cleft palate, High palate, Polydactyly, Short tibia |
OMIM:300484 |
| Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Inguinal hernia, Situs inversus totalis, Pancreatic cysts, Patent d... |
OMIM:267010 |
| Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease |
|
Situs inversus totalis, Dextrocardia |
OMIM:613095 |
| Renal Agenesis |
|
Renal insufficiency, Ventricular septal defect, Proteinuria, Unilateral renal agenesis, Ureteral ... |
ORPHA:411709 |
| Stevenson-Carey Syndrome |
|
Hip dysplasia, Gastroesophageal reflux, Left superior vena cava draining to coronary sinus, Campt... |
OMIM:611961 |
| Occipital Horn Syndrome |
|
Venous insufficiency, High, narrow palate, Coxa vara, Humerus varus, Pectus carinatum, Gastroesop... |
ORPHA:198 |
| Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Ventricular septal defect, Thoracolumbar scoliosis, Short neck, Pectus excavatum, Bilateral crypt... |
OMIM:300472 |
| Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal femur morphology, Abnormal form of the ve... |
ORPHA:464329 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Gastroesophageal reflux, Postaxial polydactyly |
OMIM:612913 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu recurvatum, Micrognathia, Lateral clavicle hook, Metaphyseal widening, Pectus carinatum, Hig... |
OMIM:182212 |
| Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aort... |
ORPHA:449400 |
| Chondrodysplasia Punctata, Tibia-Metacarpal Type |
|
Micromelia, Epiphyseal stippling, Short long bone, Coronal cleft vertebrae, Short 3rd metacarpal,... |
OMIM:118651 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young |
OMIM:600496 |
| Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
| Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Spinal dysraphism, Sirenomel... |
ORPHA:63260 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect |
ORPHA:476126 |
| Cranioectodermal Dysplasia 2 |
|
Short neck, Micrognathia, Renal cyst, High palate, Narrow chest, Atrial septal defect, Patent for... |
OMIM:613610 |
| Combined Oxidative Phosphorylation Deficiency 2 |
|
Patent ductus arteriosus, Brachydactyly |
OMIM:610498 |
| Hennekam Lymphangiectasia-Lymphedema Syndrome 2 |
|
Syndactyly, Pericardial lymphangiectasia, Pulmonary lymphangiectasia, Camptodactyly, Intestinal l... |
OMIM:616006 |
| Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Coxa vara, Tibial bowing, Pectus carinatum, Iron deficiency anemia, High palate, Hypo... |
ORPHA:93315 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Anal atresia |
ORPHA:93950 |
| Raine Syndrome |
|
Bowing of the long bones, Hydroureter, Micromelia, Short neck, Pectus excavatum, Protruding tongu... |
OMIM:259775 |
| Burn-Mckeown Syndrome |
|
Inguinal hernia, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, 2-3 toe synd... |
OMIM:608572 |
| Craniofrontonasal Dysplasia |
|
Finger syndactyly, Broad hallux phalanx, Abnormal clavicle morphology, Sandal gap, Camptodactyly ... |
ORPHA:1520 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Multicystic kidney dysplasia, Missing ribs, Abnormal rib morphology, Aplasia/Hypoplasia involving... |
ORPHA:3301 |
| Diabetes Mellitus, Permanent Neonatal, 1 |
|
Diabetes mellitus, Small for gestational age, Elevated hemoglobin A1c, Reduced C-peptide level, T... |
OMIM:606176 |
| 1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Gastroesophageal reflux, Clinodactyly... |
ORPHA:1606 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle... |
ORPHA:85188 |
| Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
| Ververi-Brady Syndrome |
|
Transposition of the great arteries |
OMIM:617982 |
| 19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Atrial septal defect, Sandal gap, Ventricular septal defect, Hypos... |
ORPHA:254346 |
| Atelis Syndrome 1 |
|
Ventricular septal defect, Thrombocytopenia, Bronchiectasis, Lumbar kyphosis, Leukopenia, High pa... |
OMIM:620184 |
| Developmental And Epileptic Encephalopathy 89 |
|
Microretrognathia, Omphalocele, Flexion contracture, Cleft palate, Narrow chest, Talipes equinova... |
OMIM:619124 |
| Hyperparathyroidism 1 |
|
Hypercalcemia |
OMIM:145000 |
| Shwachman-Diamond Syndrome 1 |
|
Metaphyseal chondrodysplasia, Metaphyseal widening, Proximal femoral metaphyseal irregularity, Co... |
OMIM:260400 |
| Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Overtubulated long bones, Gastroesophageal reflux, Short clav... |
OMIM:619793 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vert... |
ORPHA:280 |
| Jansen-De Vries Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Hyperlordosis, Central diaphragmatic hernia, Sm... |
OMIM:617450 |
| 7Q11.23 Microduplication Syndrome |
|
Single transverse palmar crease, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemiv... |
ORPHA:96121 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Myocardial fibrosis, Respiratory insufficiency, Transposition of the grea... |
OMIM:253800 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Splenomegaly, Patent ductus arteriosus, Postaxial hand polydactyly, Aplasi... |
OMIM:617088 |
| Congenital Myopathy 11 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale |
OMIM:619967 |
| 7Q31 Microdeletion Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Patent ductus arteriosus after birth at t... |
ORPHA:251061 |
| Trigonocephaly-Short Stature-Developmental Delay Syndrome |
|
Inguinal hernia, Ventricular septal defect, Fifth finger distal phalanx clinodactyly, Metopic sut... |
ORPHA:3369 |
| Chronic Granulomatous Disease |
|
Recurrent respiratory infections, Abnormality of neutrophils, Malabsorption, Pyloric stenosis, Me... |
ORPHA:379 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Abnormal aortic arch morphology, Arteriovenous malformation, Abnormal hip bone ... |
ORPHA:1110 |
| Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Recurrent respiratory infections, Single transverse palmar crease, High, narrow palate, Patent du... |
OMIM:618076 |
| Apert Syndrome |
|
Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda... |
OMIM:101200 |
| Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Joint dislocation, Recurrent respiratory infections, Ventricular septal defect, Splenomegaly, Cle... |
OMIM:620210 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Camptodactyly of finger, Abnormal hand bone ossification, Short toe, Mesomelic arm sh... |
OMIM:300244 |
| Isolated Dandy-Walker Malformation |
|
Tetralogy of Fallot, Cleft palate |
ORPHA:217 |
| Cardioacrofacial Dysplasia 2 |
|
Recurrent patellar dislocation, Common atrium, Postaxial hand polydactyly, Clubbing, Genu valgum,... |
OMIM:619143 |
| Glycogen Storage Disease Ixa1 |
|
Hepatomegaly, Hypertriglyceridemia, Hypoglycemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
| Bnar Syndrome |
|
Anteriorly placed anus, Anal stenosis, Abnormal fifth toe morphology |
ORPHA:217266 |
| Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Micrognathia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplasti... |
OMIM:614524 |
| Mosaic Trisomy 20 |
|
Vertebral fusion, Ventricular septal defect, Down-sloping shoulders, Micrognathia, Kyphosis, Cryp... |
ORPHA:1724 |
| Aminopterin Syndrome Sine Aminopterin |
|
Syndactyly, Thoracic scoliosis, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Short... |
OMIM:600325 |
| Doors Syndrome |
|
Adrenal hyperplasia, Abnormal finger morphology, Hemivertebrae, Nephrocalcinosis, High palate, Ga... |
ORPHA:79500 |
| Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Mi... |
OMIM:613309 |
| Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Multicystic kidney dysplasia... |
ORPHA:2052 |
| Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Single transverse palmar crease, Rectal prolapse, Pectus... |
OMIM:303600 |
| Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Flexion contracture, Gastroesophageal reflux, Vesicoureteral ref... |
OMIM:605039 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short thorax, Short metatarsa... |
OMIM:617102 |
| X-Linked Lissencephaly With Abnormal Genitalia |
|
Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Malabsorption, Micrognathi... |
ORPHA:452 |
| Robinow Syndrome |
|
Micrognathia, Hemivertebrae, Atrial septal defect, Webbed penis, Micropenis, Fused thoracic verte... |
ORPHA:97360 |
| Oculoauriculovertebral Spectrum With Radial Defects |
|
Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Preaxial hand polydactyly, Cleft pa... |
ORPHA:2549 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Ventricular septal defect, Intestinal malrotation, Postaxial polydactyly, Micrognathia, Lower lim... |
ORPHA:404440 |
| Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Anterior cerebral artery stenosis, Posterior cerebral artery stenosis, Th... |
OMIM:132900 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
| Nephronophthisis 16 |
|
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... |
OMIM:615382 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal joint contracture of fin... |
ORPHA:1145 |
| Fanconi Anemia, Complementation Group R |
|
Anal atresia, Pelvic kidney, Radial dysplasia, Absent thumb |
OMIM:617244 |
| Oculoskeletodental Syndrome |
|
Hypercalcemia, Hypocalcemia |
ORPHA:557003 |
| Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Hamartomatous polyposis, Multiple... |
ORPHA:251992 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Ventricular septal defect, Anterior pituitary hypoplasi... |
OMIM:613457 |
| Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:241410 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ventricular septal defect, Talipes, Micromeli... |
ORPHA:1908 |
| Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Pes planus, Short femur, Talipes, Short neck, Cleft hard palate, Micrognathia, Patent ductus arte... |
OMIM:300990 |
| Brachydactyly, Type E, With Atrial Septal Defect, Type Ii |
|
Atrial septal defect, Short metatarsal, Type E brachydactyly, Short 4th metacarpal |
OMIM:113301 |
| Proximal Symphalangism |
|
Finger syndactyly, Brachydactyly, Camptodactyly of finger, Tarsal synostosis, Elbow dislocation, ... |
ORPHA:3250 |
| Microphthalmia, Syndromic 3 |
|
Vertebral fusion, Ventricular septal defect, Hypospadias, Anterior pituitary hypoplasia, Missing ... |
OMIM:206900 |
| Becker Nevus Syndrome |
|
Lipoatrophy, Micromelia, Supernumerary nipple, Pectus excavatum, Kyphosis, Abnormal tibia morphol... |
ORPHA:64755 |
| Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Inguinal hernia, Ventricular septal defect, Thyroid lymphangiectasia, Short neck, Pancreatic lymp... |
OMIM:235255 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Bicuspid aortic valve, Hypospadias, Metatarsus adductus, P... |
OMIM:611962 |
| Fadd-Related Immunodeficiency |
|
Pulmonary artery atresia, Ventricular septal defect |
ORPHA:306550 |
| Fetal Akinesia Deformation Sequence 1 |
|
Elbow contracture, Short neck, Micrognathia, High, narrow palate, Congenital contracture, High pa... |
OMIM:208150 |
| Cleidocranial Dysplasia |
|
Micrognathia, High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior il... |
ORPHA:1452 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Hyperextensibility of the finger joints, Splenomegaly, Patent ductus arteri... |
OMIM:135500 |
| Congenital Diaphragmatic Hernia |
|
Pulmonary hypoplasia, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2140 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Dilation of Virchow-Robin spaces, Sandal gap, Rocker bottom foot, Single transvers... |
OMIM:619951 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S... |
OMIM:609053 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Ventricular septal defect, Pectus exc... |
ORPHA:79329 |
| Cenani-Lenz Syndactyly Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Broad hallux, Ectopic kidney, Pectus excavatum, Hypoplasia of... |
OMIM:212780 |
| Hamamy Syndrome |
|
Atrial septal defect, Complete atrioventricular canal defect |
OMIM:611174 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Abno... |
OMIM:618652 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Delayed closure of the anterior fontanelle, Patent ductus arteriosus, Renal tubular dysfunction, ... |
OMIM:614886 |
| Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... |
ORPHA:177907 |
| Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Abnormal rib morpholo... |
ORPHA:2772 |
| Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
| Mckusick-Kaufman Syndrome |
|
Syndactyly, Congenital hip dislocation, Hydroureter, Mesoaxial hand polydactyly, Aganglionic mega... |
OMIM:236700 |
| White-Sutton Syndrome |
|
Wormian bones, Congenital diaphragmatic hernia, Short neck, Micrognathia, Patent ductus arteriosu... |
OMIM:616364 |
| Insulin-Like Growth Factor I, Resistance To |
|
Reduced subcutaneous adipose tissue, Sandal gap, Ventricular septal defect, Lipodystrophy, Microg... |
OMIM:270450 |
| Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Ventricular septal defect, Short neck, Pectus excavatum, Patent ductus arteriosus, Cleft palate, ... |
ORPHA:52055 |
| Brachydactyly, Type B2 |
|
Tarsal synostosis, Proximal placement of thumb, Aplasia/Hypoplasia of the distal phalanges of the... |
OMIM:611377 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Failure to thrive in infancy, Cardiomyopathy, Hypocalcemia, Left ventricular hypertrophy, Hypoket... |
ORPHA:746 |
| Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Cleft palate, Fused cervical vertebrae, Scoliosis, Cervical C2/C3 vert... |
OMIM:214300 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Aminoaciduria, Stroke, Gastroe... |
OMIM:249270 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Situs inversus totalis, Decreased nasal nitric oxide, Bronchiectasis, Productive cough |
OMIM:615434 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
| Ogden Syndrome |
|
Microretrognathia, Inguinal hernia, Ventricular septal defect, Broad hallux, High, narrow palate,... |
ORPHA:276432 |
| Hurler Syndrome |
|
Abnormal clavicle morphology, Recurrent respiratory infections, Abnormal heart valve morphology, ... |
ORPHA:93473 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Short neck, Micrognathia, Delayed epiphyseal ossific... |
OMIM:210710 |
| Craniofacial Dyssynostosis With Short Stature |
|
Ventricular septal defect, Hypospadias, Pyloric stenosis, Patent ductus arteriosus, Cryptorchidis... |
OMIM:218350 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon, Preaxial foot polydactyly, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
| Chronic Intestinal Pseudoobstruction |
|
Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus, Abnormal platelet morphology,... |
ORPHA:2978 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hyperextensibility of the finger joints, Internally rotated shoulders, Single transverse palmar c... |
OMIM:619503 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Short neck, Cryptorchidism, Patent ductus arteriosus, Duplication of phala... |
OMIM:243310 |
| Oculoskeletodental Syndrome |
|
Hepatomegaly, Small for gestational age, Hypercalcemia, Splenomegaly, Hypocalcemia |
OMIM:618440 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Single transverse palmar crease, Ventricular septal defect, Cleft ... |
OMIM:309801 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Ring Chromosome 21 Syndrome |
|
Syndactyly, Abnormal thorax morphology, Small hand, Narrow palm, Abnormal heart morphology, Clino... |
ORPHA:1445 |
| Trisomy 12P |
|
Clinodactyly of the 5th finger, Anal atresia, Large hands, Cleft palate |
ORPHA:1699 |
| Slc35A2-Cdg |
|
Limb joint contracture, Camptodactyly of finger, Abnormality of the hand, Coxa valga, Metatarsus ... |
ORPHA:356961 |
| C Syndrome |
|
Joint dislocation, Micromelia, Short neck, Micrognathia, Congenital diaphragmatic hernia, High pa... |
ORPHA:1308 |
| Abdominal Obesity-Metabolic Syndrome 3 |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Truncal obesity, Abdominal obesity... |
OMIM:615812 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Abnormally ossified vertebrae, Multicystic kidney dysplasia, Micromelia... |
ORPHA:1318 |
| Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Pseudoepiphyses, Gastroesophageal reflux, Atrial septal defect, ... |
OMIM:157800 |
| Periventricular Nodular Heterotopia 7 |
|
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... |
OMIM:617201 |
| Aniridia-Absent Patella Syndrome |
|
Cryptorchidism, Inguinal hernia, Aplasia/Hypoplasia of the patella |
ORPHA:1069 |
| Celiac Disease, Susceptibility To, 1 |
|
Rickets, Osteoporosis, Weight loss, Hypocalcemia, Steatorrhea, Type I diabetes mellitus, Failure ... |
OMIM:212750 |
| Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation |
|
Patent ductus arteriosus |
OMIM:122430 |
| Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Maternal diabetes, Maturity-onset diabetes of the young, Transient neo... |
ORPHA:99886 |
| Intellectual Disability, Buenos-Aires Type |
|
Pectus carinatum, Hydronephrosis, Abnormal pelvic girdle bone morphology, Abnormal cardiac septum... |
ORPHA:3079 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Gastroesophageal r... |
OMIM:194050 |
| German Syndrome |
|
Camptodactyly of finger, Short neck, Micrognathia, Cryptorchidism, Abnormal cardiac septum morpho... |
ORPHA:2077 |
| Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Abnormal morphology of ulna, Aplasia/Hypoplasia of the tongue, Abn... |
ORPHA:2167 |
| Achondrogenesis |
|
Inguinal hernia, Micromelia, Short neck, Micrognathia, Short thorax, Aplasia/Hypoplasia of the lu... |
ORPHA:932 |
| Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Sacral dimple, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elb... |
ORPHA:2633 |
| Coffin-Siris Syndrome |
|
Ventricular septal defect, Hypospadias, Hepatoblastoma, Cryptorchidism, Patent ductus arteriosus,... |
ORPHA:1465 |
| Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Brachydactyly, Single transverse palmar crease, Bifid distal phalanx of the thumb, Triangular sha... |
ORPHA:370010 |
| Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Patent ductus... |
ORPHA:2328 |
| Mucopolysaccharidosis Type 1 |
|
Joint dislocation, Recurrent respiratory infections, Inguinal hernia, Abnormal heart valve morpho... |
ORPHA:579 |
| Gracile Bone Dysplasia |
|
Failure to thrive, Decreased skull ossification, Hypocalcemia |
OMIM:602361 |
| Umbilical Cord Ulceration-Intestinal Atresia Syndrome |
|
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... |
ORPHA:3405 |
| Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Syndactyly, Palmoplantar keratoderma, Cardiomegaly |
OMIM:613576 |
| Orofaciodigital Syndrome Type 4 |
|
Joint dislocation, Micromelia, Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the tibia... |
ORPHA:2753 |
| Coffin-Siris Syndrome 4 |
|
Atrial septal defect, Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Cleft ... |
OMIM:614609 |
| Polysyndactyly With Cardiac Malformation |
|
Syndactyly, Ventricular septal defect, Preaxial hand polydactyly, Duplication of phalanx of hallu... |
OMIM:263630 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Short metacarpal, Atrophy of the spinal cord, Epiphyseal stippling, Pulmonary hypoplasia, Talipes... |
ORPHA:86822 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Recurrent respiratory infections, Overlapping toe, Flexion contracture, Pectus carinatum, High pa... |
OMIM:619383 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Persistent open anterior fontanelle, Inguinal hernia, Arachnodactyly, Mitral valve prolapse, Atro... |
OMIM:615539 |
| Transaldolase Deficiency |
|
Pancytopenia, Ventricular septal defect, Short neck, Thrombocytopenia, Patent ductus arteriosus, ... |
OMIM:606003 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Abnormal sacroiliac joint morphology, Anal atresia |
ORPHA:1807 |
| Gm1 Gangliosidosis Type 1 |
|
Macroglossia, Spatulate ribs, Cherry red spot of the macula, Pectus carinatum, Hypoplastic verteb... |
ORPHA:79255 |
| Giant Cell Arteritis |
|
Glossitis, Pericarditis, Renal insufficiency, Abnormal pleura morphology, Recurrent pharyngitis, ... |
ORPHA:397 |
| Silver-Russell Syndrome 3 |
|
Syndactyly, Unilateral cryptorchidism, Elbow contracture, Patent ductus arteriosus, Small hand, A... |
OMIM:616489 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Joint dislocation, Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing,... |
OMIM:618019 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Aganglionic megacolon, U... |
OMIM:308205 |
| Al Kaissi Syndrome |
|
Pes planus, Sacral dimple, High, narrow palate, Hemivertebrae, Small hand, Deep palmar crease, At... |
OMIM:617694 |
| Colonic Atresia |
|
Omphalocele, Peptic ulcer, Duodenal stenosis, Gastroschisis, Colonic atresia |
ORPHA:1198 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Ventricular septal defect, Hypospadias, Supernumerary nipple, Patent ductus arteriosus, 2-3 toe s... |
OMIM:106260 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
| Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
| Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Abnormal lung lobation, High palate, Gastroesophageal refl... |
OMIM:607872 |
| Arterial Tortuosity Syndrome |
|
Coxa vara, Gastroesophageal reflux, Clinodactyly of the 5th finger, Arachnodactyly, Femoral herni... |
ORPHA:3342 |
| Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
| Combined Immunodeficiency-Enteropathy Spectrum |
|
Omphalocele, Autoimmune hemolytic anemia, Ventricular septal defect, Intestinal malrotation, Jeju... |
ORPHA:436252 |
| Short Stature-Micrognathia Syndrome |
|
Penoscrotal hypospadias, Rhizomelia, Ventricular septal defect, Bowing of the legs, Coxa valga, C... |
OMIM:617164 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Ventricular septal defect, Polydactyly |
OMIM:602501 |
| Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Rocker bottom foot, Dysphagia, Atrial septal defect, Hypoplastic spleen, Paten... |
ORPHA:89844 |
| Nephronophthisis 15 |
|
Polydactyly, Nephronophthisis |
OMIM:614845 |
| Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Small for gestational age, Hyperphosp... |
OMIM:127000 |
| Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Renal insufficiency, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foo... |
OMIM:615986 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Long palm, Arachnodactyly, Aplasia/Hypoplasia of the tongue, Mi... |
ORPHA:2759 |
| Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... |
OMIM:604169 |
| Craniodiaphyseal Dysplasia |
|
Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
| Spina Bifida-Hypospadias Syndrome |
|
Spina bifida, Spinal dysraphism |
ORPHA:3176 |
| Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Pes planus, Ventricular septal defect, Overlapping toe, Cerebral hemorrhage, Proteinuria, Hiatus ... |
OMIM:616682 |
| Primary Intestinal Lymphangiectasia |
|
Pericardial effusion, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia |
ORPHA:90362 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Stage 5 chronic kidney disease, Short long bone, Polydactyly, Narrow chest, Brachydactyly |
OMIM:613819 |
| Phelan-Mcdermid Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, 2-3 toe syndact... |
OMIM:606232 |
| Familial Isolated Hypoparathyroidism |
|
Hypocalcemia |
ORPHA:2238 |
| Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect |
OMIM:617044 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Perimembranous ventricular septal defect, High palate, Scoliosis, Pulmonic steno... |
OMIM:618205 |
| Cutis Laxa, Autosomal Recessive, Type Iie |
|
Syndactyly, Pectus excavatum, Short thorax, Genu varum, Hip dislocation, Deep palmar crease, High... |
OMIM:619451 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Ventricular septal defect, Abnormality of the hand, Short neck, Cryptorchidism, Abnor... |
ORPHA:369891 |
| Atelis Syndrome 2 |
|
Pes planus, Sacral dimple, Single transverse palmar crease, Micrognathia, Kyphosis, Patent ductus... |
OMIM:620185 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Zechi-Ceide Syndrome |
|
Sandal gap, Short metatarsal, Cleft palate, Abnormal heart morphology, Atrial septal defect, Long... |
ORPHA:217017 |
| X-Linked Agammaglobulinemia |
|
Failure to thrive, Hypocalcemia, Weight loss |
ORPHA:47 |
| Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Syndactyly, Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Micrognathia, Cryptorch... |
OMIM:616975 |
| Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Prominent fingertip pads, Laryngotracheomalacia, Anal atresia |
OMIM:616875 |
| 19P13.3 Microduplication Syndrome |
|
Ventricular septal defect, Unilateral cryptorchidism, Kyphoscoliosis, Micrognathia, Long fingers,... |
ORPHA:447980 |
| Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Postaxial hand polydactyly, Hypoplastic frontal si... |
OMIM:136760 |
| Colchicine Poisoning |
|
Hyponatremia, Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypoc... |
ORPHA:31824 |
| Dahlberg-Borer-Newcomer Syndrome |
|
Hypocalcemia, Mitral valve prolapse |
ORPHA:1563 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Myhre Syndrome |
|
Abnormal penis morphology, Inguinal hernia, Hypospadias, Femoral hernia, Epispadias, Cryptorchidi... |
ORPHA:2588 |
| Meckel Syndrome, Type 6 |
|
Absent gallbladder, Postaxial hand polydactyly, Bilobed right lung, Renal cyst, Horseshoe kidney,... |
OMIM:612284 |
| Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prolapse, Hig... |
OMIM:309800 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Short neck, Ectopic kid... |
OMIM:122470 |
| Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Thin ribs, Abnormal... |
OMIM:617397 |
| Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Single transverse palmar crease, Abnormal a... |
ORPHA:264450 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Atrial septal defect, Decreased response to growth hormone stimulation test, Taper... |
ORPHA:485405 |
| Anencephaly 2 |
|
Median cleft lip, Anencephaly, Median cleft palate, Cleft maxillary alveolar ridge |
OMIM:619452 |
| Noonan Syndrome 7 |
|
Short neck, Pectus excavatum, Dysphagia, Pectus carinatum, Shield chest, Deep palmar crease, Impa... |
OMIM:613706 |
| Congenital-Onset Steinert Myotonic Dystrophy |
|
Talipes, Patent ductus arteriosus, Enuresis, Abnormal cardiac septum morphology, Gastroesophageal... |
ORPHA:589821 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Postaxial hand polydactyly, Abnormality of ... |
ORPHA:75389 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Atrial septal defect, Pes planus, Arachnodactyly, Hyperlordosis, Micrognathia, Mitral valve prola... |
OMIM:300986 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl... |
OMIM:210720 |
| Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemi... |
ORPHA:79444 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ventricular septal defect, Abnormal odontoid process morphology, Short neck, Pectus excavatum, Cl... |
OMIM:609654 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Tapered finger, Pectus excavatum, Flattened epiphysis, Genu valgum, Pectus ... |
OMIM:607131 |
| Desmosterolosis |
|
Intestinal malrotation, Micromelia, Micrognathia, Metatarsus adductus, Splenomegaly, Patent ductu... |
ORPHA:35107 |
| Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Renal insufficiency, Splenomegaly, Patent ductus arteriosus, High palate, Umbi... |
OMIM:251290 |
| Hypoglossia With Situs Inversus |
|
Situs inversus totalis, Upper airway obstruction, Respiratory distress |
OMIM:612776 |
| Turnpenny-Fry Syndrome |
|
Prominent interphalangeal joints, Pectus carinatum, Long thorax, High palate, Narrow chest, Gastr... |
OMIM:618371 |
| Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Reticulocytopenia, Leukop... |
ORPHA:124 |
| Waardenburg Syndrome Type 3 |
|
Camptodactyly of finger, Tracheomalacia, Atelectasis, Abnormal finger morphology, Cutaneous finge... |
ORPHA:896 |
| Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Sandal gap, Hypospadias, Micrognathia, Splenomegaly, Abnormality of the uret... |
ORPHA:1046 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Atrial septal defect, Rhizomelia, Single transverse palmar crease, Ventricular septal defect, Dec... |
OMIM:614114 |
| Kaufman Oculocerebrofacial Syndrome |
|
Atrial septal defect, Congenital hip dislocation, Long palm, Single transverse palmar crease, Ven... |
OMIM:244450 |
| Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Absent penis, Vesicoureteral reflux, Bladder exstrophy, Spina b... |
ORPHA:322 |
| Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ventricular septal defect, Vesicoureteral reflux, Cleft palate, Right ventricular hypertrophy, At... |
OMIM:614261 |
| Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis... |
OMIM:610205 |
| Mucolipidosis Ii Alpha/Beta |
|
Cardiomegaly, Micrognathia, Metaphyseal widening, Thoracolumbar kyphoscoliosis, Hypoplasia of the... |
OMIM:252500 |
| Aspergillosis |
|
Pneumonia, Eosinophilia, Hypersensitivity pneumonitis, Abnormal rib morphology, Bronchiectasis, I... |
ORPHA:1163 |
| Autosomal Dominant Spastic Paraplegia Type 29 |
|
Pes cavus, Abnormal rectum morphology, Hernia, Hiatus hernia |
ORPHA:101009 |
| Hardikar Syndrome |
|
Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Thoracolumb... |
OMIM:301068 |
| Arterial Tortuosity Syndrome |
|
Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Arachnodactyly, Congenital d... |
OMIM:208050 |
| Kyphomelic Dysplasia |
|
Micromelia, Micrognathia, Lateral clavicle hook, Tibial bowing, Femoral bowing, Pterygium, Short ... |
OMIM:211350 |
| Hurler Syndrome |
|
Short neck, Metaphyseal widening, Flexion contracture, Hernia, Endocardial fibroelastosis, Hypopl... |
OMIM:607014 |
| Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Pes planus, Inguinal hernia, Hyperext... |
OMIM:130000 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Summitt Syndrome |
|
Syndactyly |
OMIM:272350 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Proximal placement of thumb, Short neck, Micrognathia, Atrial septal defect, Bifid uvula, Tapered... |
OMIM:613458 |
| Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Generalized osteoporosis, Hypophosphatemia |
ORPHA:99879 |
| Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Clubbing, Multiple gastric ... |
OMIM:175200 |
| Syndromic Diarrhea |
|
Lymphopenia, Villous atrophy, Inguinal hernia, Bicuspid aortic valve, Ventricular septal defect, ... |
ORPHA:84064 |
| 46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
| Fraser Syndrome 2 |
|
Intestinal malrotation, Unilateral renal agenesis, Short thorax, Rectal atresia, Renal hypoplasia... |
OMIM:617666 |
| Neu-Laxova Syndrome |
|
Micromelia, Spina bifida, Micrognathia, Submucous cleft hard palate, Flexion contracture, Cleft p... |
ORPHA:2671 |
| Beaulieu-Boycott-Innes Syndrome |
|
Ventricular septal defect, Unilateral renal agenesis, Micrognathia, Patent ductus arteriosus, Vel... |
OMIM:613680 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Perimembranous ventricular septal defect, Atrial septal defect, Hypert... |
OMIM:620135 |
| Kleefstra Syndrome |
|
Hypoplasia of penis, Bicuspid aortic valve, Renal cyst, Gastroesophageal reflux, Hernia, Vesicour... |
ORPHA:261494 |
| Maturity-Onset Diabetes Of The Young, Type 13 |
|
Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young, Maternal diabet... |
OMIM:616329 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Inguinal hernia, Overlapping toe, Supernumerary nipple, Tapered finger, Cryptorchidism, Arteria l... |
OMIM:618653 |
| Hartsfield Syndrome |
|
Encephalocele, Non-midline cleft lip, Split hand, Cleft palate, Lobar holoprosencephaly, Aplasia/... |
ORPHA:2117 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Bilateral single transverse palmar creases, Abnormality of the ureter,... |
ORPHA:1770 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Abnormal thorax morphology, Patent ductus arteriosus, Anomalous pulmonary venous return, Hernia o... |
ORPHA:2184 |
| Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus |
ORPHA:2866 |
| 9Q21.13 Microdeletion Syndrome |
|
Abnormal tongue morphology, Gastrointestinal dysmotility, Abnormal heart morphology, Hip dysplasi... |
ORPHA:531151 |
| Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Osteopenia, Splenomegaly, Hypokalemia, Hypocalcemia, Dysphagia |
OMIM:617913 |
| Imagawa-Matsumoto Syndrome |
|
Clinodactyly, Large hands, Anteriorly placed anus, Camptodactyly |
OMIM:618786 |
| Lateral Meningocele Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Ventricular septal defect, Hyperlordosis, Pectus excava... |
ORPHA:2789 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Joint dislocation, Thoracic scoliosis, Widened atrophic scar, High, narrow palate, Joint subluxat... |
ORPHA:1900 |
| Distal 7Q11.23 Microduplication Syndrome |
|
Cryptorchidism, Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic aneurysm |
ORPHA:261102 |
| Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, High, narrow palate,... |
OMIM:616920 |
| Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Pes planus, Bicuspid aortic valve, Micrognathia, Pectus excavatum, Patent ductus arteriosus, Narr... |
ORPHA:555877 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Pes planus, Ventricular septal defect, Left ventricular noncompaction cardiomyopat... |
OMIM:300967 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Plantar pits, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Vertebral... |
OMIM:109400 |
| Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type |
|
Limb undergrowth, Splenomegaly, Abnormal limb bone morphology, Aplasia/Hypoplasia of the lungs |
ORPHA:2204 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Ventricular septal defect, Craniosynostosis, Short neck, Pectus excavatum, Cryptorchidism, Patent... |
OMIM:617506 |
| Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Obesity, Hypoalb... |
ORPHA:247353 |
| Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short neck, Micrognathia, Pancreatic lymphangiectasis... |
ORPHA:1655 |
| Tetraamelia Syndrome 2 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Cleft palate, Glossoptosis, Bilateral lun... |
OMIM:618021 |
| Renpenning Syndrome 1 |
|
Atrial septal defect, Hypospadias, Ventricular septal defect, Phimosis, Pectus excavatum, Situs i... |
OMIM:309500 |
| Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
| Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, Ho... |
OMIM:112350 |
| Down Syndrome |
|
Sandal gap, Bilateral single transverse palmar creases, Aganglionic megacolon, Protruding tongue,... |
ORPHA:870 |
| Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Intestinal pseudo-obstruction, Intestinal malrotation, Increased mean platelet volume, Pyloric st... |
OMIM:300048 |
| Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
| Bardet-Biedl Syndrome 2 |
|
Bicuspid aortic valve, Postaxial hand polydactyly, Dilated cardiomyopathy, Postaxial foot polydac... |
OMIM:615981 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Arachnodactyly, Kyphoscoliosis, Pectus excavatum, Methioninuria, Mitral valve pr... |
OMIM:236200 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nippl... |
ORPHA:457279 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Secundum atrial septal defect, Rhizomelic arm shortening, Abnormal fibular epiphy... |
ORPHA:96190 |
| Larsen-Like Syndrome, Lethal Type |
|
Tracheomalacia, Pulmonary hypoplasia |
OMIM:245650 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Macroorchidism, Arachnodactyly, Ventricular septal defec... |
OMIM:309520 |
| Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Clinodactyly of the 5th finger, Syndactyly, Tapered finger |
OMIM:618725 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Osteopenia, Hypercalcemia, Craniosynostosis |
OMIM:614732 |
| Cholera |
|
Hyponatremia, Hypoglycemia, Abnormal blood ion concentration, Hypokalemia, Hypocalcemia |
ORPHA:173 |
| 20P12.3 Microdeletion Syndrome |
|
Atrial septal defect, Broad hallux phalanx, Broad thumb, Pectus carinatum |
ORPHA:261295 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Single transverse palmar crease, Short neck, Tibial bowing, Hypo... |
OMIM:269150 |
| Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Bowing of the legs, Spinal cord compression, Osteoarthritis, Enamel... |
OMIM:307800 |
| Craniosynostosis, Philadelphia Type |
|
Finger syndactyly |
ORPHA:1527 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Inguinal hernia, Overlapping toe, Hypospadias, Proximal placement of thumb, Tapered finger, Unila... |
ORPHA:487796 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Diaphyseal thickening, Curved distal phalanges of the hand |
ORPHA:3152 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Hepatomegaly, Increased bone mineral density, Splenomegaly, Cranial hyperostosis, Hepatosplenomeg... |
OMIM:259720 |
| Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies |
|
Hallux valgus, Micrognathia, Secundum atrial septal defect, Long hallux, Pectus carinatum, High p... |
OMIM:620194 |
| Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Ventricular septal defect, Arachnodactyly, Proteinuria, Minimal chan... |
OMIM:616730 |
| Loeys-Dietz Syndrome |
|
Joint dislocation, Pes planus, Arachnodactyly, Camptodactyly of finger, Craniosynostosis, Arteria... |
ORPHA:60030 |
| Genetic Recurrent Myoglobinuria |
|
Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia |
ORPHA:99845 |
| Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Thin ribs, Bell-shaped thorax,... |
OMIM:166210 |
| Mohr Syndrome |
|
Syndactyly, Pectus excavatum, Preaxial hand polydactyly, Postaxial hand polydactyly, Flared metap... |
OMIM:252100 |
| Grant Syndrome |
|
Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Abnormal pelv... |
ORPHA:2097 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Thoracic aortic aneurysm, Bronchomalacia, Ileal atresia, Patent ductus arteriosus, Megacy... |
OMIM:619351 |
| Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Abnormal epiphysis morphology, Neutrop... |
ORPHA:2643 |
| Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Tracheal stenosis, Craniosyno... |
ORPHA:1790 |
| Arboleda-Tham Syndrome |
|
Secundum atrial septal defect, Bilateral cryptorchidism, Long thorax, Gastroesophageal reflux, Na... |
OMIM:616268 |
| Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Pes planus, Inguinal hernia, Sagittal craniosynostosis, Micrognathia, Small hand, Cleft palate, T... |
ORPHA:459061 |
| Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Micrognathia, High palate, Atrial septal defect, P... |
OMIM:147920 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Chylomicron Retention Disease |
|
Failure to thrive, Hypertriglyceridemia, Steatorrhea, Hypocholesterolemia |
ORPHA:71 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased palmar creases, Cervical kyphosis, Functional abnormality of the bladder, Abnormal ster... |
ORPHA:2953 |
| Proximal Spinal Muscular Atrophy |
|
Multiple joint contractures, Recurrent infections due to aspiration, Flexion contracture, Elbow f... |
ORPHA:70 |
| Adams-Oliver Syndrome 5 |
|
Syndactyly, Brachydactyly, Inguinal hernia, Hypersplenism, Splenomegaly, Esophageal varix, Pulmon... |
OMIM:616028 |
| Mucopolysaccharidosis, Type Ii |
|
Inguinal hernia, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Short neck, Hepa... |
OMIM:309900 |
| Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
| Dysosteosclerosis |
|
Micrognathia, Increased intervertebral space, Absent frontal sinuses, Hypoplastic vertebral bodie... |
OMIM:224300 |
| Currarino Syndrome |
|
Neurogenic bladder, Anal stenosis, Urinary incontinence, Perianal abscess, Gastrointestinal obstr... |
OMIM:176450 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Renal cyst, Vertebral segmentation defect, Clinodactyly ... |
OMIM:272460 |
| Osteogenesis Imperfecta, Type Ix |
|
Beaded ribs, Pectus excavatum, Kyphosis, Dentinogenesis imperfecta, Pectus carinatum, Platyspondy... |
OMIM:259440 |
| Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
| Tyshchenko Syndrome |
|
Ventricular septal defect, High, narrow palate, Narrow palate, Cleft palate, High palate, Pulmoni... |
OMIM:615102 |
| Cdags Syndrome |
|
Hypospadias, Rectourethral fistula, Cleft palate, Rectovaginal fistula, Short ribs, Short clavicl... |
OMIM:603116 |
| Spondylospinal Thoracic Dysostosis |
|
Multiple pterygia, Micrognathia, Short thorax, Pulmonary hypoplasia, Arthrogryposis multiplex con... |
OMIM:601809 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Congenital hip dislocation, High palate, Atrial septal defect, Thoracolumbar scoliosis, Tapered f... |
ORPHA:480880 |
| Hamel Cerebro-Palato-Cardiac Syndrome |
|
Atrial septal defect, Arachnodactyly, Cleft palate, Micrognathia |
ORPHA:93946 |
| Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Transient neutropenia, Tibial bowing, Spina bifida occulta, Long hallux, Multicystic kidney dyspl... |
ORPHA:500095 |
| Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
| Williams-Beuren Region Duplication Syndrome |
|
Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, C... |
OMIM:609757 |
| Degcags Syndrome |
|
Oral-pharyngeal dysphagia, Micrognathia, Bilateral renal hypoplasia, Leukopenia, Iron deficiency ... |
OMIM:619488 |
| Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Hors... |
ORPHA:2470 |
| Hypophosphatasia |
|
Failure to thrive in infancy, Hypercalcemia, Craniosynostosis |
ORPHA:436 |
| Distal 22Q11.2 Microduplication Syndrome |
|
Sacral dimple, Toe syndactyly, Ventricular septal defect, Camptodactyly of finger, Unilateral ren... |
ORPHA:261337 |
| Peters-Plus Syndrome |
|
Ureteral duplication, Single transverse palmar crease, Limited elbow movement, Proximal placement... |
OMIM:261540 |
| Acro-Renal-Ocular Syndrome |
|
Vertebral segmentation defect, Triphalangeal thumb, Vesicoureteral reflux, Hypoplasia of the ulna... |
ORPHA:959 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Polycystic kidney dysplasia |
OMIM:615397 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Obesity, Reduced bone mineral density, Hyperostosis f... |
ORPHA:79443 |
| Peters Plus Syndrome |
|
Ureteral duplication, Micromelia, Short neck, Micrognathia, Bicuspid pulmonary valve, Abnormal pu... |
ORPHA:709 |
| Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, High palate, Narrow chest, Broad ribs, Pel... |
OMIM:304150 |
| Parathyroid Carcinoma |
|
Hypercalcemia |
OMIM:608266 |
| Adams-Oliver Syndrome |
|
Gastrointestinal hemorrhage, Finger syndactyly, Brachydactyly, Abnormal pulmonary valve morpholog... |
ORPHA:974 |
| Hand-Foot-Genital Syndrome |
|
Shortening of all middle phalanges of the fingers, Sacral dimple, Ventricular septal defect, Hypo... |
ORPHA:2438 |
| Cerebrofacioarticular Syndrome |
|
Syndactyly, Anal stenosis, Hypospadias, Renal hypoplasia, Abnormal heart morphology, Anteriorly p... |
ORPHA:314679 |
| Diabetes Mellitus, Transient Neonatal, 3 |
|
Elevated hemoglobin A1c, Maternal diabetes, Reduced C-peptide level, Transient neonatal diabetes ... |
OMIM:610582 |
| Fryns Microphthalmia Syndrome |
|
Neural tube defect, Bilateral cleft lip and palate |
OMIM:600776 |
| Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
| Bruck Syndrome 2 |
|
Inguinal hernia, Wormian bones, Flexion contracture, Elbow flexion contracture, Pectus carinatum,... |
OMIM:609220 |
| Granulomatous Slack Skin |
|
Hypercalcemia |
ORPHA:33111 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Monosomy 5P |
|
Finger syndactyly, High palate, Small hand |
ORPHA:281 |
| Lambert Syndrome |
|
Inguinal hernia, Ventricular septal defect, Hypospadias |
ORPHA:1296 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Intestinal polyposis, Curved middle phalanx of the 4th toe, Microretrognathia, Arachnodactyly, Ta... |
ORPHA:276413 |
| Diffuse Neonatal Hemangiomatosis |
|
Hepatomegaly, Hypercalcemia |
ORPHA:2123 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Short neck, Micrognathia, Tibial bowing, High palate, Clinodactyly of the 5th finger, Micropenis,... |
ORPHA:251028 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Absent frontal sinuses, Hemivertebrae, Gastroesophageal reflux, Micropenis, Hypospadias, Tapered ... |
OMIM:301040 |
| Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome |
|
Gastrointestinal hemorrhage, Hip contracture, Cerebral hemorrhage, Diffuse alveolar hemorrhage, A... |
ORPHA:464321 |
| Orofaciodigital Syndrome Type 5 |
|
Aganglionic megacolon, Cleft soft palate, Ectopic accessory finger-like appendage, High, narrow p... |
ORPHA:2919 |
| Grange Syndrome |
|
Syndactyly, Bicuspid aortic valve, Carotid artery stenosis, Renovascular hypertension, Finger cli... |
OMIM:602531 |
| Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... |
OMIM:113500 |
| Opitz Gbbb Syndrome |
|
Hypospadias, Ventricular septal defect, Rectourethral fistula, Cleft palate, Congenital posterior... |
OMIM:300000 |
| Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Hypocholesterolemia |
OMIM:618810 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ulnar deviation of the hand, Ventricular septal defect, Rocker bottom foot, Single tr... |
OMIM:272950 |
| Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Ventricular septal defect, Tapered finger, Pectus ... |
ORPHA:193 |
| Meckel Syndrome, Type 4 |
|
Bowing of the long bones, Ventricular septal defect, Postaxial hand polydactyly, Renal cyst, Clef... |
OMIM:611134 |
| Osteogenesis Imperfecta, Type V |
|
Hyperextensibility of the finger joints, Pes planus, Vertebral wedging, Abnormal pelvic girdle bo... |
OMIM:610967 |
| Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Prominent fingertip pads, Laryngotracheomalacia, Anal atresia |
ORPHA:480898 |
| Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
|
Metaphyseal dysplasia, Broad tibial metaphyses, Equinovarus deformity, Bowing of the legs, Metaph... |
ORPHA:2502 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Aplasia/Hypoplasia ... |
ORPHA:3472 |
| Leopard Syndrome 1 |
|
Complete atrioventricular canal defect, Mitral valve prolapse, Pulmonic stenosis, Subvalvular aor... |
OMIM:151100 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Renal cyst, Postaxial polydactyly |
OMIM:614970 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger, Cyst of the ductus choledochus, Patent ductus arteri... |
OMIM:619480 |
| Hyperlipidemia, Familial Combined, 3 |
|
Increased VLDL cholesterol concentration, Hyperlipidemia, Elevated circulating apolipoprotein B c... |
OMIM:144250 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Micrognathia, Kyphosis, Patent ductus arteriosus, Cleft palate, Varico... |
OMIM:153400 |
| Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Kyphosis, Cryptorchidism, Cleft palate, Pulmon... |
OMIM:619123 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, High palate, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Clinodactyly of the 5th finger, Ventricular septal defect, Rocker bottom foot |
OMIM:618506 |
| Orofaciodigital Syndrome Xiv |
|
Microretrognathia, Broad hallux, Ventricular septal defect, Hamartoma of tongue, Micrognathia, Ep... |
OMIM:615948 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Recurrent respiratory infections, Short femur, Hypospadias, Patent ductus arterios... |
ORPHA:17 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Arthropathy, Long clavicles, Pectus excavatum, Patent ductus arteriosus, Clubbing, Osteolytic def... |
OMIM:259100 |
| Spondyloocular Syndrome |
|
Long toe, Pes planus, Overlapping toe, Arachnodactyly, Femur fracture, Duodenal ulcer, Unilateral... |
OMIM:605822 |
| Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Overriding aorta, Ventricular septal defect, Extramedullary hematopoiesis, ... |
OMIM:617021 |
| Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Hypospadias, Aplasia/Hypopl... |
OMIM:219000 |
| Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Hypercalcemia, Weight loss |
OMIM:143880 |
| Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... |
ORPHA:70475 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Hallux valgus, Pes planus, Short metacarpal, Inguinal hernia, Ventricular septal defect, Craniosy... |
ORPHA:166035 |
| Tibial Hemimelia |
|
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contrac... |
ORPHA:93322 |
| Diprosopus |
|
Non-midline cleft lip, Anencephaly, Cleft palate |
ORPHA:1681 |
| Sanjad-Sakati Syndrome |
|
Hyperphosphatemia, Hypocalcemia, Patchy osteosclerosis |
ORPHA:2323 |
| Cutis Laxa, Autosomal Recessive, Type Iic |
|
Bilateral cryptorchidism, Knee flexion contracture, Nephrocalcinosis, High palate, Atrial septal ... |
OMIM:617402 |
| Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Atrial septal defect, Recurrent respiratory infections, Thyroid hypoplasia, V... |
ORPHA:3047 |
| Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia, Anemia |
ORPHA:209964 |
| Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Failure to thrive, Hypercalcemia |
OMIM:239199 |
| Rubinstein-Taybi Syndrome 2 |
|
Syndactyly, Broad hallux, Intestinal malrotation, Narrow palate, Short first metatarsal, High pal... |
OMIM:613684 |
| Hypomandibular Faciocranial Dysostosis |
|
Micrognathia, Patent ductus arteriosus, Aglossia, Atrial septal defect, Coronal craniosynostosis |
OMIM:241310 |
| Fatco Syndrome |
|
Finger syndactyly, Tarsal synostosis, Abnormal tibia morphology, Split hand, Absent hand, Abnorma... |
ORPHA:2492 |
| Gm1-Gangliosidosis, Type I |
|
Beaking of vertebral bodies, Inguinal hernia, Thickened ribs, Abnormal heart valve morphology, Sh... |
OMIM:230500 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Recurrent respiratory infections, Eosinophilia, Micrognathia, Recurrent pneumonia, Bronchiectasis... |
OMIM:618282 |
| Gaucher Disease, Perinatal Lethal |
|
Cardiomegaly, Micrognathia, Thrombocytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Pulmonary... |
OMIM:608013 |
| Cystic Fibrosis |
|
Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent pneumonia, Cor ... |
OMIM:219700 |
| Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Broad thumb, Brachydac... |
OMIM:614526 |
| Ring Chromosome 12 Syndrome |
|
Syndactyly, Lumbar hyperlordosis, Pectus excavatum, Secundum atrial septal defect, Abnormal 5th f... |
ORPHA:1439 |
| Congenital Tufting Enteropathy |
|
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
| Congenital Heart Block |
|
Pericardial effusion, Patent ductus arteriosus, Endocardial fibroelastosis, Pleural effusion, Pat... |
ORPHA:60041 |
| Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Arachnodactyly, Kyphoscoliosis, Wide distal femoral metaphysis, Dentinogenesis... |
OMIM:614856 |
| Shprintzen-Goldberg Syndrome |
|
Micrognathia, High, narrow palate, Abnormal form of the vertebral bodies, Pectus carinatum, Gastr... |
ORPHA:2462 |
| Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Recurrent respiratory infections, Inguinal hernia, Aganglionic megacolon, Malabsorption, Pectus e... |
ORPHA:935 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Short thumb, Palmoplantar keratoderma, Triphalangeal ... |
ORPHA:2251 |
| Pseudoaminopterin Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Micrognathia, Asplenia, High palate, Pat... |
ORPHA:221120 |
| Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
11 pairs of ribs, Accessory spleen, Severe B lymphocytopenia, Delayed cranial suture closure, Cra... |
OMIM:620005 |
| Coffin-Siris Syndrome 5 |
|
Sandal gap, Atrial septal defect, Arachnodactyly, Short distal phalanx of finger |
OMIM:616938 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Short neck, Mic... |
ORPHA:2570 |
| Tetraamelia Syndrome 1 |
|
Congenital diaphragmatic hernia, Micrognathia, Asplenia, Peripheral pulmonary vessel aplasia, Cle... |
OMIM:273395 |
| Kbg Syndrome |
|
Single transverse palmar crease, Congenital malformation of the left heart, Cleft palate, Cutaneo... |
ORPHA:2332 |
| Keutel Syndrome |
|
Recurrent respiratory infections, Ventricular septal defect, Pulmonary artery stenosis, Recurrent... |
ORPHA:85202 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Kabuki Syndrome 2 |
|
Atrial septal defect, Micrognathia, Hip dislocation, Horseshoe kidney, Coarctation of aorta, Clef... |
OMIM:300867 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Micrognathia, Metaphyseal widening, Abnormal thorax morphology, Dysphagia, Abnormal form of the v... |
ORPHA:73230 |
| Tetrasomy 12P |
|
Abnormal soft palate morphology, Anal atresia |
ORPHA:884 |
| Transaldolase Deficiency |
|
Atrial septal defect, Biventricular hypertrophy, Coarctation of aorta |
ORPHA:101028 |
| Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short palm, Clinodactyly of the 5th fing... |
ORPHA:3210 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Hypospadias, Postaxial polydactyly, Postaxial hand polydactyly, Rena... |
OMIM:614175 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Cardiofaciocutaneous Syndrome 3 |
|
Ventricular septal defect, Pulmonic stenosis, Scoliosis, Atrial septal defect, Hypertrophic cardi... |
OMIM:615279 |
| Neuroleptic Malignant Syndrome |
|
Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Dysphagia, Hyperp... |
ORPHA:94093 |
| Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Pericardial effusion, Dilated cardiomyopathy, Hyperaldosteronism, Hypocalcemia, Hypomagnesemia, H... |
ORPHA:73224 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Camptodactyly, Joint contracture... |
OMIM:603543 |
| Cranioectodermal Dysplasia |
|
Finger syndactyly, Brachydactyly, Rhizomelia, Pectus excavatum, Abnormal diaphysis morphology, Na... |
ORPHA:1515 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Bi... |
OMIM:617403 |
| X-Linked Intellectual Disability, Armfield Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Abnormality of the elbow... |
ORPHA:85276 |
| Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Obesity, Hyperphosphatemia, Subcutaneous ossification, Hypocalcemic tetany |
OMIM:103580 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Tarsal synostosis, Aplastic clavicle, Short thorax, Cl... |
ORPHA:85199 |
| King-Denborough Syndrome |
|
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi... |
OMIM:619542 |
| Fanconi Anemia, Complementation Group Q |
|
Anteriorly placed anus, Esophageal atresia, Primum atrial septal defect, Absent thumb |
OMIM:615272 |
| Gitelman Syndrome |
|
Salt craving, Maternal diabetes, Pericardial effusion, Insulin resistance, Hypermagnesemia, Gluco... |
ORPHA:358 |
| Dysosteosclerosis |
|
Ventricular septal defect, Abnormal dental enamel morphology, Hypoplastic vertebral bodies, Irreg... |
ORPHA:1782 |
| Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Tracheomalacia, Spina bifida, Micrognath... |
ORPHA:1393 |
| Kleefstra Syndrome 1 |
|
Recurrent respiratory infections, Hypospadias, Single transverse palmar crease, Protruding tongue... |
OMIM:610253 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Micrognathia, Hemivertebr... |
OMIM:151050 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Pes planus, Rhizomelia, Femoral bowing, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4t... |
OMIM:619638 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Adrenal hyperplasia, High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed ... |
ORPHA:95699 |
| Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Atrial septal defect, Pes planus, Abnormality of the hand, Abnormality of the upper limb, Clinoda... |
ORPHA:521308 |
| Charlie M Syndrome |
|
Finger syndactyly, Split hand, Triphalangeal thumb, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:1406 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Pes planus, Inguinal hernia, Redundant umbilical skin, Cleft soft palate, Kyphoscoliosis, Patent ... |
OMIM:614557 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Broad hallux phalanx, Atrial septal defect, Sacral dimple, Sandal gap, Single transverse palmar c... |
ORPHA:363611 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Short femur, Rhizomelia, Hypoplastic scapulae, Dumbbell-shaped long bone, Micromelia, Micrognathi... |
ORPHA:440354 |
| Maternal Uniparental Disomy Of Chromosome 4 |
|
Abetalipoproteinemia, Elevated circulating creatine kinase concentration, Decreased LDL cholester... |
ORPHA:96180 |
| Hypophosphatasia, Infantile |
|
Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Anorexia, Decreased calvarial oss... |
OMIM:241500 |
| Mucopolysaccharidosis, Type Iiia |
|
Inguinal hernia, Thickened ribs, Heparan sulfate excretion in urine, Splenomegaly, Recurrent uppe... |
OMIM:252900 |
| Tatton-Brown-Rahman Syndrome |
|
Ventricular septal defect, Sagittal craniosynostosis, Vesicoureteral reflux, Patellar subluxation... |
OMIM:615879 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Dermatoglyp... |
ORPHA:99413 |
| Frontoocular Syndrome |
|
Micrognathia, Pectus excavatum, High palate, Pulmonic stenosis, Atrial septal defect, Coronal cra... |
OMIM:605321 |
| Mosaic Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Dermatoglyp... |
ORPHA:99228 |
| Monosomy X |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Dermatoglyp... |
ORPHA:99226 |
| Turner Syndrome |
|
Bicuspid aortic valve, Short neck, Ectopic kidney, High, narrow palate, Micrognathia, Dermatoglyp... |
ORPHA:881 |
| Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Muscular ventricular septal defect, High palate, Atrial septal defect, Umbilical... |
OMIM:618354 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Rothmund-Thomson Syndrome |
|
Hypoplasia of the ulna, Plantar hyperkeratosis, Aplastic anemia, Abnormal dental enamel morpholog... |
ORPHA:2909 |
| Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Renal insufficiency, Proteinuria, Tapered finger, Patent ductus arteriosus, Abnormal aortic valve... |
ORPHA:86818 |
| Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short metacarpal, Sacral dimple, Tethered cord, Short neck, Rectal prolapse, Short metatarsal, Re... |
OMIM:617157 |
| Late-Onset Isolated Acth Deficiency |
|
Hyponatremia, Decreased circulating cortisol level, Failure to thrive, Hypoglycemia, Hypercalcemi... |
ORPHA:199299 |
| Joubert Syndrome 16 |
|
Polydactyly, Renal cyst, Nephronophthisis |
OMIM:614465 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the stomach, Rectal prolapse, Clubbing, Multiple gastric polyps, Hematochezia, Colon ... |
OMIM:174900 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Single transverse palmar crease, Urinary incontinence, High palate, Atrial se... |
OMIM:619522 |
| Spinal Arteriovenous Metameric Syndrome |
|
Kyphoscoliosis, Cutaneous angiolipomas, Abnormal spinal cord morphology, Spinal arteriovenous mal... |
ORPHA:53721 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Short neck, Micrognathia, Hemivertebrae, Nephrocalcinosis, Short palm, Thoracic hemivertebrae, Mi... |
OMIM:268310 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Gastrointestinal dysmo... |
ORPHA:352665 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Short neck, Micrognathia, Coxa vara, Pectus carinatum, High palate, Wrist flexion con... |
ORPHA:800 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Omphalocele, Recurrent respiratory infections, Inguinal hernia, Abnormal pelvis bone morphology, ... |
ORPHA:2273 |
| Wolf-Hirschhorn Syndrome |
|
Single transverse palmar crease, Micrognathia, Abnormal form of the vertebral bodies, Gastroesoph... |
OMIM:194190 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Sacral dimple, Hypospadias, Abnormal dental enamel morphology, Congeni... |
ORPHA:2556 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Short distal phalanx of toe, Atrial septal defect, Bilateral triphalangeal thumbs, ... |
OMIM:619356 |
| Aortic Valve Disease 2 |
|
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... |
OMIM:614823 |
| Hypomelanosis Of Ito |
|
Syndactyly, Clinodactyly, Hand polydactyly, Radial deviation of finger |
OMIM:300337 |
| Endosteal Hyperostosis, Autosomal Dominant |
|
Sclerotic vertebral body, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal... |
OMIM:144750 |
| Noonan Syndrome 4 |
|
Pectus excavatum of inferior sternum, Ureteral duplication, Ventricular septal defect, Short neck... |
OMIM:610733 |
| Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
Proximal placement of thumb, Secundum atrial septal defect, 2-3 toe syndactyly, Scoliosis, Comple... |
OMIM:619121 |
| Warsaw Breakage Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-3 toe syndactyly, High palate, Clin... |
OMIM:613398 |
| Filippi Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, 2-4 toe syndactyly, Cryptorchidism, C... |
OMIM:272440 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia, Splenomegaly, Abnormal blood ion concentration, Hypoalbum... |
ORPHA:37042 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Cleft palate... |
OMIM:605282 |
| Lethal Congenital Contracture Syndrome 9 |
|
Thoracic kyphoscoliosis, Elbow extension contracture, Ulnar deviation of the hand, Micrognathia, ... |
OMIM:616503 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Short metacarpal, Bowing of the long bones, Rhizomelia, Metaphyseal spurs, Ovoid... |
ORPHA:85167 |
| Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Sagittal craniosynostosis, Pectus ex... |
OMIM:609942 |
| Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Micromelia, Short neck, Micrognathia, High, narrow palate, Hypoplas... |
ORPHA:3015 |
| Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Inguinal hernia, Short... |
OMIM:252940 |
| Laurence-Moon Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Renal insufficiency, Bilateral single transverse palmar c... |
ORPHA:2377 |
| Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Atrial septal defect, Stroke, Ventricular septal defect |
ORPHA:49827 |
| Curry-Jones Syndrome |
|
Finger syndactyly, Toe syndactyly, Intestinal malrotation, Abnormality of thumb phalanx, Preaxial... |
ORPHA:1553 |
| Combined Oxidative Phosphorylation Deficiency 41 |
|
Decreased circulating cortisol level, Hypoglycemia, Elevated circulating creatine kinase concentr... |
OMIM:618838 |
| Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Postaxial hand polydactyly, Abnormal cardiac septum morphology, Ventricular septal defect |
ORPHA:83473 |
| Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Patent ductus arteriosus, Coronary artery aneurysm, Abnormal... |
ORPHA:2041 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Hydrocephalus, Anencephaly, Cleft palate, Postaxial foot polydactyly,... |
OMIM:614120 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Short neck, Kyphoscoliosis, Tracheal stenosis, Abnormal thorax... |
OMIM:302960 |
| Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Atrial septal defect, Single transverse palmar crease, Kyphoscoliosis, Hyposegmentation of neutro... |
OMIM:620075 |
| Aniridia And Absent Patella |
|
Aplasia/Hypoplasia of the patella |
OMIM:106220 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Syndactyly, Streak ovary, Hypospadias, Jejunal atresia, Kyphoscoliosis, Ileal atresi... |
OMIM:618820 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Arachnodactyly, Pectus excavatum, Thoracic kyphosis, Clinodactyly |
OMIM:619092 |
| Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
| Noonan Syndrome 11 |
|
Atrial septal defect, Pectus excavatum, Pulmonic stenosis, Palmoplantar cutis laxa, Hypertrophic ... |
OMIM:618499 |
| Autosomal Dominant Hypocalcemia |
|
Reduced bone mineral density, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia |
ORPHA:428 |
| Oculoauriculofrontonasal Syndrome |
|
Pericallosal lipoma, Scoliosis, Ventricular septal defect, Cleft palate |
ORPHA:398156 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the... |
ORPHA:1556 |
| Knobloch Syndrome |
|
Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral reflux, Bifid ureter |
ORPHA:1571 |
| Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
| Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Atrial septal defect, Recurrent lower respiratory tract infections, Bicuspid aortic valve |
OMIM:617744 |
| Mucolipidosis Type Ii |
|
Knee flexion contracture, Abnormal long bone morphology, Narrow chest, Patent foramen ovale, Prom... |
ORPHA:576 |
| Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217085 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Meckel Syndrome, Type 3 |
|
Multicystic kidney dysplasia, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyl... |
OMIM:607361 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Sotos Syndrome |
|
Ureteral duplication, Flexion contracture, Pedal edema, Gastroesophageal reflux, Vesicoureteral r... |
ORPHA:821 |
| Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency |
|
Ketotic hypoglycemia, Hyperlipidemia, Glycosuria, Postprandial hyperglycemia, Failure to thrive |
ORPHA:2089 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Abnormal thumb morphology, Finger syndactyly, Abnormality of the wrist, Proximal placement of thumb |
ORPHA:1825 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Abnormal heart morphology, ... |
ORPHA:494344 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlarg... |
OMIM:241530 |
| 17Q24.2 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Short neck, Micrognathia, Patent ductus ar... |
ORPHA:529962 |
| Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hepatomegaly, Hypercalcemia, Splenomegaly, Hypophosphatemia, Polydipsia, Failure to t... |
OMIM:239200 |
| Lipodystrophy, Familial Partial, Type 1 |
|
Hepatomegaly, Insulin-resistant diabetes mellitus, Hypertriglyceridemia, Hyperglycemia |
OMIM:608600 |
| Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
| Cardiofaciocutaneous Syndrome |
|
Abnormality of the gastrointestinal tract, Abnormal heart valve morphology, Abnormal morphology o... |
ORPHA:1340 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Short fourth metatarsal, Single transverse palmar crease, Anterior pituitary hypoplasia, Microgna... |
OMIM:619841 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Camptodactyly of finger, Micromelia, Ulnar deviation of finger, Furrowed tongue, Abnormal pelvic ... |
ORPHA:2928 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Congenital hip dislocation, Ventricular septal defect, Rocker bottom foot, Equinovarus deformity,... |
ORPHA:3078 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Aganglionic megacolon, Cleft palate, Shortening of all distal phalanges of the fin... |
OMIM:614207 |
| Pearson Syndrome |
|
Hepatomegaly, Diabetes mellitus, Small for gestational age, Hypomagnesemia, Splenomegaly, Dysphag... |
ORPHA:699 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short palm, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Thin ... |
ORPHA:163966 |
| Pontocerebellar Hypoplasia, Type 8 |
|
Ventricular septal defect, Gastroesophageal reflux, Talipes equinovarus, Scoliosis, Dysphagia, Ar... |
OMIM:614961 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Cog1-Cdg |
|
Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valga, Short neck, Micrognathi... |
ORPHA:263508 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, High palate, Atrial septal defect, Microretrognathia, Arachnodactyly, Scarring... |
OMIM:601776 |
| Three M Syndrome 2 |
|
Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Short thorax, Pectus carinatum... |
OMIM:612921 |
| Ferguson-Bonni Neurodevelopmental Syndrome |
|
High palate, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fis... |
OMIM:619699 |
| Lipodystrophy, Familial Partial, Type 3 |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Maternal diabetes, Insulin resista... |
OMIM:604367 |
| Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine |
ORPHA:51208 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Abnormal vertebral morp... |
ORPHA:217093 |
| Alagille Syndrome 1 |
|
Hypoplasia of the ulna, Ventricular septal defect, Butterfly vertebral arch, Multiple small medul... |
OMIM:118450 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Prominent metopic ridge, Inguinal hernia, Broad hallux, Postaxial polydactyly, Unilateral renal a... |
ORPHA:457284 |
| Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Anal atresia |
OMIM:619243 |
| Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia |
OMIM:270420 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Joint dislocation, Bicuspid aortic valve, Decreased response to growth hormo... |
ORPHA:363958 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Prominent metopic ridge, Inguinal hernia, Arachnodactyly, Long palm, Camptodac... |
ORPHA:2215 |
| Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Heparan sulfate excretion in urine, Splenomegaly, Recurrent upper... |
OMIM:252930 |
| Orofaciodigital Syndrome Type 14 |
|
Microretrognathia, Broad hallux, Deviation of the hallux, Ventricular septal defect, Short neck, ... |
ORPHA:434179 |
| Camptobrachydactyly |
|
Syndactyly, Urinary incontinence, Short toe, Hand polydactyly, Congenital finger flexion contract... |
OMIM:114150 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Atrioventricular canal defect |
OMIM:617364 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Syndactyly, Shortening of all middle phalanges of the fingers, Broad hallux, B... |
OMIM:101600 |
| Weaver Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Sandal gap, Camptodactyly of finger, Large hands, Talipes... |
ORPHA:3447 |
| Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Atrial septal defect, Urinary incontinence |
OMIM:620094 |
| Desbuquois Dysplasia 2 |
|
Single transverse palmar crease, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phal... |
OMIM:615777 |
| Jacobsen Syndrome |
|
Atrial septal defect, Recurrent respiratory infections, Ventricular septal defect, Hypospadias, M... |
OMIM:147791 |
| Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Gastroesophageal re... |
ORPHA:466791 |
| Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Microretrognathia, Broad long bones, S... |
OMIM:200610 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
Inguinal hernia, Sandal gap, Micrognathia, 2-3 toe syndactyly, Renal hypoplasia, Small thenar emi... |
OMIM:618914 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Osteopenia, Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, St... |
OMIM:212065 |
| Harrod Syndrome |
|
Multicystic kidney dysplasia, Arachnodactyly, Hypospadias, Kyphosis, Cryptorchidism, Abnormal sho... |
ORPHA:2115 |
| Microcephaly 30, Primary, Autosomal Recessive |
|
Inguinal hernia, Cleft soft palate, Tracheal stenosis, Secundum atrial septal defect, Clinodactyl... |
OMIM:620183 |
| Intellectual Developmental Disorder, Autosomal Dominant 4 |
|
Syndactyly, Short toe |
OMIM:612581 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Micrognathia, Lateral clavicle hook, High, narrow palate, 2-3 toe cutan... |
OMIM:600920 |
| Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Thenar muscle atrophy, Pectus excavatum, Cardiomegaly,... |
ORPHA:2463 |
| Klippel-Feil Syndrome 1, Autosomal Dominant |
|
Unilateral renal agenesis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Cervical... |
OMIM:118100 |
| Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation |
|
Ventricular septal defect, Talipes equinovarus |
OMIM:209770 |
| Abetalipoproteinemia |
|
Osteopenia, Decreased HDL cholesterol concentration, Hepatomegaly, Failure to thrive, Cardiomegal... |
ORPHA:14 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Renal insufficiency, Ventricular septal defect, Postaxial polydactyly, Renal corticomedullary cys... |
OMIM:219730 |
| Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Micrognathia, Abnormal foot morphology, Vertebral ar... |
ORPHA:85184 |
| Woods Syndrome |
|
Ventricular septal defect, Single transverse palmar crease, Supernumerary nipple, 3-4 finger cuta... |
OMIM:615236 |
| Transketolase Deficiency |
|
Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary artery course, P... |
ORPHA:488618 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sandal gap, Aortopulmonary collateral arteries, Micrognathia, Long fingers, Crypto... |
OMIM:617557 |
| Rhabdoid Tumor |
|
Hypercalcemia, Weight loss |
ORPHA:69077 |
| 2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Brachydactyly, Multicystic kidney dysplasia,... |
ORPHA:1001 |
| Marfan Syndrome |
|
Limited elbow movement, Micrognathia, High, narrow palate, Pectus carinatum, Emphysema, Arachnoda... |
ORPHA:558 |
| Weill-Marchesani Syndrome |
|
Ventricular septal defect, Short thumb, Pulmonic stenosis, Aortic valve stenosis, Brachydactyly |
ORPHA:3449 |
| Lymphatic Malformation 6 |
|
Micrognathia, Pectus excavatum, Splenomegaly, Hydrocele testis, Varicose veins, Pleural effusion,... |
OMIM:616843 |
| Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Flexion contracture, F... |
OMIM:207410 |
| Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Metaphyseal widening, Sub... |
ORPHA:99646 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Hypercalcemia, Craniosynostosis, Obesity, Increased blood urea nitrogen, Polyphagia, Enlarged kidney |
ORPHA:251004 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Ventricular septal defect, Micrognathia, Talipes calcaneovalgus, Nephrocalcinosis, Renal tubular ... |
OMIM:208085 |
| Aase-Smith Syndrome I |
|
Ventricular septal defect, Flexion contracture, Cleft palate, Talipes equinovarus, Slender finger |
OMIM:147800 |
| Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia |
|
Gastroesophageal reflux, Patent foramen ovale |
OMIM:617182 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Intestinal polyposis, Atrial septal defect, Multicystic kidney dysplasia, Micrognathia, Abnormal ... |
ORPHA:1052 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Sandal gap, Recurrent bronchitis, 2-3 toe syndactyly, Cleft palate, Bronchiectasis... |
OMIM:251260 |
| Chime Syndrome |
|
Ventricular septal defect, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hi... |
ORPHA:3474 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Gastrointestinal dysmotility, Hemivertebrae, Gastroesophageal reflux, A... |
ORPHA:500150 |
| Camptobrachydactyly |
|
Finger syndactyly, Aplasia/Hypoplasia of the thumb, Toe syndactyly, Camptodactyly of finger, Ulna... |
ORPHA:1319 |
| Kawasaki Disease |
|
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Recurrent pha... |
ORPHA:2331 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Sandal gap, Brachydactyly |
OMIM:616459 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ventricular septal defect, Single transverse palmar crease, Talipes, Flexion contracture, Abnorma... |
ORPHA:79243 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Sandal gap, Cleft palate, Ectopic anus, High palate, C... |
ORPHA:251038 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Preaxial hand polydactyly, ... |
OMIM:610536 |
| Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Flexion contracture, Abnormal form of the vertebral b... |
ORPHA:581 |
| Curry-Jones Syndrome |
|
Anal stenosis, Intestinal pseudo-obstruction, Duplication of thumb phalanx, Intestinal malrotatio... |
OMIM:601707 |
| Hemochromatosis, Type 1 |
|
Hepatomegaly, Diabetes mellitus, Cardiomegaly, Increased circulating ferritin concentration, Sple... |
OMIM:235200 |
| Atrial Septal Defect 6 |
|
Atrial septal defect |
OMIM:613087 |
| Mogs-Cdg |
|
Thoracic scoliosis, Cardiomegaly, Hepatosplenomegaly, Hydrocele testis, High palate, Atrial septa... |
ORPHA:79330 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Prominent metopic ridge, Inguinal hernia, Hypospadias, Supernumerary nipple, Secundum atrial sept... |
OMIM:618109 |
| Duplication Of Urethra |
|
Urethral stricture, Anuria, Hypospadias, Urinary incontinence, Distal urethral duplication, Dysur... |
ORPHA:237 |
| Cerebellofaciodental Syndrome |
|
Pes planus, Ventricular septal defect, Single transverse palmar crease, Tapered finger, Short nec... |
OMIM:616202 |
| Gapo Syndrome |
|
Abnormal clavicle morphology, Abnormal cerebral vascular morphology, Micrognathia, Abnormal thora... |
ORPHA:2067 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Osteopenia, Hypoglycemia, Small for gestational age, Rickets, Reduced bone mineral density, Hypoa... |
OMIM:613658 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Absence of renal corticomedullary differentiation, Hematemesis, Multiple sma... |
OMIM:263200 |
| Laurence-Moon Syndrome |
|
Micropenis, Polydactyly, Abnormality of the hand |
OMIM:245800 |
| 16Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Proximal placement of thumb, Micrognathia, Kyphosis, Cryptorchidism, D... |
ORPHA:261250 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Micrognathia, Patent ductus arteriosus, Cleft palate, Femoral bowing, Flared lower limb metaphysi... |
OMIM:616462 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Hypospadias |
ORPHA:141333 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Patent ductus arteriosus, Vesicoureteral reflux, Double inlet left ventricle, Polydac... |
OMIM:619869 |
| Cohen-Gibson Syndrome |
|
Coxa valga, Hypoplastic iliac wing, Long fingers, Patent ductus arteriosus, Cryptorchidism, Flare... |
OMIM:617561 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Recurrent respiratory infections, Kyphosis, Cryptorchidism, Flexion contracture, Small hand, Xero... |
ORPHA:398069 |
| Costello Syndrome |
|
Ventricular septal defect, Abnormal dental enamel morphology, Short neck, Cryptorchidism, Narrow ... |
ORPHA:3071 |
| Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Atrial septal defect, Inguinal hernia, Scoliosis |
OMIM:619115 |
| Desmosterolosis |
|
Rhizomelia, Micrognathia, Patent ductus arteriosus, Cleft palate, Bilateral talipes equinovarus, ... |
OMIM:602398 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Joint dislocation, Inguinal hernia, Abnormality of subcutaneous fat tissue, Femoral hernia, Scarr... |
ORPHA:1901 |
| Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Micrognathia, Kyphosis, Thin ribs, Tibial bowing, Slender long bone, Scolios... |
OMIM:259420 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Hypospadias, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Microphallus,... |
ORPHA:397590 |
| Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
| Oculodentodigital Dysplasia |
|
Abnormal clavicle morphology, Micrognathia, Abnormal form of the vertebral bodies, Clinodactyly o... |
ORPHA:2710 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Bifid uvula, Cleft soft palate, Cleft palate |
ORPHA:2736 |
| Kid Syndrome |
|
Coxa valga, Equinus calcaneus, Scarring alopecia of scalp, Patellar hypoplasia, Knee flexion cont... |
ORPHA:477 |
| Small Cell Carcinoma Of The Bladder |
|
Hypercalcemia |
ORPHA:284400 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, V... |
OMIM:126320 |
| Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
1-2 toe syndactyly, Broad hallux, Ventricular septal defect, Tapered finger, Talipes, Congenital ... |
OMIM:301044 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Calcaneovalgus deformit... |
ORPHA:261537 |
| 16P13.11 Microdeletion Syndrome |
|
Atrial septal defect, Ventricular septal defect, Camptodactyly of finger, Pectus excavatum, Crypt... |
ORPHA:261236 |
| Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Wide cranial sutures, Rhizomelia, Protrusio acetabul... |
OMIM:610682 |
| Cerebellar-Facial-Dental Syndrome |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Foot joint contractu... |
ORPHA:444072 |
| Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Patent ductus arteriosus |
OMIM:615147 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent fo... |
OMIM:620327 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Renal insufficiency, Femoral hernia, Inguinal hernia, Protruding tongue, Con... |
ORPHA:96147 |
| Bardet-Biedl Syndrome 3 |
|
Renal hypoplasia, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Preaxial polydactyly |
ORPHA:64754 |
| Tbck-Related Intellectual Disability Syndrome |
|
11 pairs of ribs, Broad toe, Neurogenic bladder, Prominent metopic ridge, Ventricular septal defe... |
ORPHA:488632 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ... |
OMIM:277440 |
| Cardiofaciocutaneous Syndrome 1 |
|
Hyperextensibility of the finger joints, Atrial septal defect, Short neck, Pectus excavatum, Sple... |
OMIM:115150 |
| Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Hepatoblastoma, Vesicoureter... |
ORPHA:116 |
| Analbuminemia |
|
Recurrent lower respiratory tract infections, Patent ductus arteriosus, Lipodystrophy |
OMIM:616000 |
| Klippel-Trenaunay-Weber Syndrome |
|
Syndactyly, Macrodactyly, Hand oligodactyly, Hand polydactyly, Arteriovenous fistula |
OMIM:149000 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Dilation of Virchow-Robin spaces, Toe syndactyly, Single transverse palmar crease, Bicuspid aorti... |
OMIM:619720 |
| Renal Hypodysplasia/Aplasia 1 |
|
Pulmonary hypoplasia, Proteinuria, Talipes equinovarus |
OMIM:191830 |
| Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Myocarditis, Elevated circulating creatinine ... |
ORPHA:36234 |
| Kindler Epidermolysis Bullosa |
|
Urethral stricture, Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology... |
ORPHA:2908 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Abnormal foot morphology, Patent ductus arteriosus, Abnormal metacarpal morphology, Umbilical her... |
ORPHA:2095 |
| Thymic Neuroendocrine Tumor |
|
Osteopenia, Increased circulating cortisol level, Hypercalcemia, Weight loss |
ORPHA:97289 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Syndactyly, Pyloric stenosis |
OMIM:226700 |
| Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Si... |
OMIM:612651 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Diabetes mellitus, Hypocalcemia, Hypocalcemic seizures, Abnormal heart morphology |
ORPHA:2237 |
| Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynostosis, Abnormal rib morphology, Clef... |
ORPHA:83 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Hyperactivity, Hypoglycemia, Small for gestational age, Insulin resistance, Osteoporosis, Truncal... |
ORPHA:73272 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Stage 5 ch... |
OMIM:614099 |
| Mannosidosis, Alpha B, Lysosomal |
|
Inguinal hernia, Increased vertebral height, Splenomegaly, Vacuolated lymphocytes, Pectus carinat... |
OMIM:248500 |
| Dpagt1-Cdg |
|
Arachnodactyly, Lipodystrophy, Flexion contracture, Stroke-like episode, Intracranial hemorrhage,... |
ORPHA:86309 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Ventricular septal defect, Gastroesophageal reflux, Scoliosis, Camptodactyly, Atrial septal defec... |
OMIM:617360 |
| Pfeiffer Syndrome Type 1 |
|
Broad hallux phalanx, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Short h... |
ORPHA:93258 |
| Mody |
|
Elevated hemoglobin A1c, Large for gestational age, Overweight, Transient neonatal diabetes melli... |
ORPHA:552 |
| Osteoglophonic Dysplasia |
|
Short neck, Short metatarsal, High palate, Short palm, Pseudoarthrosis, Short phalanx of finger, ... |
OMIM:166250 |
| Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
|
Atrial septal defect, Inguinal hernia, Abnormal mitral valve morphology, Symphalangism affecting ... |
ORPHA:1292 |
| Fanconi Anemia, Complementation Group U |
|
Absent thumb, Absent radius, Ectopic kidney, Patent ductus arteriosus, Hypoplasia of the radius, ... |
OMIM:617247 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Recurrent respiratory infections, Absence of renal corticomedullary differentiation, Secundum atr... |
OMIM:619758 |
| Alazami Syndrome |
|
Atrial septal defect, Slender long bone, Scoliosis |
ORPHA:319671 |
| Blount Disease |
|
Abnormality of the knee, Tibial bowing, Abnormal tibial metaphysis morphology, Abnormality of the... |
ORPHA:2768 |
| Multifocal Atrial Tachycardia |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy, ... |
ORPHA:3282 |
| Roberts-Sc Phocomelia Syndrome |
|
Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal d... |
OMIM:268300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Patent ductus arteriosus, Left ventricular noncompaction |
OMIM:616501 |
| X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Microretrognathia, Atrial septal defect, Sacral dimple, Toe syndactyly, Ventricular septal defect... |
ORPHA:459070 |
| Craniometadiaphyseal Dysplasia |
|
Broad long bones, Coxa valga, Flared metaphysis, Genu valgum, Broad ribs, Absent paranasal sinuse... |
OMIM:269300 |
| Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Stage 5 chronic kidney disease, Polydactyly, Nephronophthisis, Vascula... |
OMIM:616307 |
| Schizophrenia 1 |
|
Syndactyly, Short proximal phalanx of the 4th toe, Ectopic kidney |
OMIM:181510 |
| Autosomal Recessive Malignant Osteopetrosis |
|
Hepatomegaly, Abnormal pulmonary valve morphology, Craniosynostosis, Splenomegaly, Reduced bone m... |
ORPHA:667 |
| X Small Rings |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Tapered finger, Short neck, 2-3... |
ORPHA:96201 |
| Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Cardiomegaly, Aggressive behavior, Splenomegaly, Asymmetric septal h... |
OMIM:252920 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Gastrointestinal dysmot... |
ORPHA:2152 |
| Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Long toe, Pes planus, Bicuspid aortic valve, Secundum atrial septal defect, Long fingers, Patent ... |
OMIM:613355 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Short neck, Micrognathia, Patent ductus arteriosus, Flexion contracture, Elbow f... |
OMIM:300868 |
| Isolated Anencephaly |
|
Omphalocele, Congenital diaphragmatic hernia |
ORPHA:563609 |
| X-Linked Hypophosphatemia |
|
Bowing of the legs, Beaded ribs, Trapezoidal distal femoral condyles, Enthesitis, Vertebral hyper... |
ORPHA:89936 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Slender build, Pulmonic stenosis, Attention deficit hyperactivity disorder, Recurr... |
OMIM:617600 |
| Cole-Carpenter Syndrome |
|
Crumpled long bones, Bowing of the long bones, Abnormal dental enamel morphology, Micrognathia, K... |
ORPHA:2050 |
| Silver-Russell Syndrome 1 |
|
Syndactyly, Urethral valve, Hypospadias, Abnormality of the ureter, Short distal phalanx of the 5... |
OMIM:180860 |
| Keratoderma Hereditarium Mutilans |
|
Cleft palate, Autoamputation of digits, Honeycomb palmoplantar hyperkeratosis, Abnormal spinal co... |
ORPHA:494 |
| Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... |
ORPHA:90291 |
| Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Cleft palate |
OMIM:602196 |
| Camurati-Engelmann Disease |
|
Abnormal tibia morphology, Abnormal femur morphology, Cortical thickening of long bone diaphyses,... |
ORPHA:1328 |
| Osteogenesis Imperfecta, Type I |
|
Biconcave flattened vertebrae, Mitral valve prolapse, Femoral bowing, Hip dysplasia, Finger joint... |
OMIM:166200 |
| Glucose-Galactose Malabsorption |
|
Failure to thrive, Hypernatremia, Hypercalcemia, Weight loss |
ORPHA:35710 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Bicuspid aortic valve, Gastroesophageal reflux, Aspiration pneumonia, Vesicoureteral reflux, Atri... |
ORPHA:438213 |
| Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Unilateral renal agenesis, Pectus excavatum, Hip dysplasia, ... |
OMIM:616362 |
| Beckwith-Wiedemann Syndrome |
|
Omphalocele, Diastasis recti, Hepatoblastoma, Cardiomegaly, Nephrolithiasis, Renal cortical cysts... |
OMIM:130650 |
| Oculoectodermal Syndrome |
|
Transient ischemic attack, Supernumerary nipple, Short neck, Lower limb asymmetry, Patent ductus ... |
OMIM:600268 |
| X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome |
|
Finger syndactyly, Hypospadias, Single transverse palmar crease, Tapered finger, Pulmonary artery... |
ORPHA:435938 |
| Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Inguinal hernia, Femoral retroversion, Kyph... |
OMIM:610915 |
| Distal Deletion 6P |
|
Atrial septal defect, Micrognathia, Short foot, Vertebral segmentation defect, Abnormal epiphysis... |
ORPHA:96125 |
| Mesomelia-Synostoses Syndrome |
|
Microretrognathia, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Micrognat... |
OMIM:600383 |
| Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Pes planus, Decreased response to growth hormone stimulation test, Patent ductus arteriosus, Rena... |
OMIM:617260 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Diabetes mellitus, Hypercalcemia, Osteomalacia, Fibrous dysplasia of the bones,... |
ORPHA:249 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Short metacarpal, Short fourth metatarsal, Overlapping toe, Thoracolumbar scoliosis, Craniosynost... |
OMIM:616723 |
| Seckel Syndrome 9 |
|
Recurrent respiratory infections, Ventricular septal defect, Congenital diaphragmatic hernia, Mic... |
OMIM:616777 |
| Radio-Tartaglia Syndrome |
|
Pes planus, Ventricular septal defect, Tapered finger, Micrognathia, High, narrow palate, High pa... |
OMIM:619312 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Postaxial hand polydactyly, Stage 5 chronic kidney disease, Renal cyst, Ge... |
OMIM:611560 |
| Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short neck, Abnormal rib morphology, Hemivertebrae, Abnormal form of the ver... |
ORPHA:2234 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect |
OMIM:620203 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Gastrointestinal ... |
OMIM:617798 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Microretrognathia, Rhizomeli... |
OMIM:616229 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Hypospadias, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Fetal Alcohol Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Cleft palate, Vertebral segmentation defect, Atria... |
ORPHA:1915 |
| Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Short metacarpal, Toe syndactyly, Anteriorly placed anus, Cutaneous ... |
OMIM:200110 |
| Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Urinary incontinence, Cleft hard palate, Asplenia, Calcaneovalgus deformit... |
ORPHA:261552 |
| Tangier Disease |
|
Hypertriglyceridemia, Hepatosplenomegaly, Hypocholesterolemia, Left ventricular hypertrophy, Coro... |
ORPHA:31150 |
| Costello Syndrome |
|
Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, Pectus... |
OMIM:218040 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Subcutaneous lipoma, Lipoma, Subvalvular aortic stenosis, Atrial septa... |
OMIM:613001 |
| Autosomal Dominant Cutis Laxa |
|
Genu recurvatum, Talipes calcaneovalgus, Abnormal curvature of the vertebral column, Hernia, Emph... |
ORPHA:90348 |
| Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Hypospadias, Cleft palate, High palate, Clinodactyly of the 5th finger |
OMIM:619736 |
| Paget Disease Of Bone 2, Early-Onset |
|
Sclerosis of skull base, Osteolysis, Hypercalcemia, Osteosclerosis of the ulna |
OMIM:602080 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Renal cyst, Hypospadias, Postaxial polydactyly |
OMIM:605231 |
| Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Short neck, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irreg... |
OMIM:610442 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
| Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Micrognathia, Thin ribs, Femoral bowing, Biconcave vertebral bodies, Wo... |
OMIM:617952 |
| Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Multicystic kidney dysplasia, Hypospadias, Short neck, Micrognathia, Cryptorchidism, Renal cyst, ... |
OMIM:257300 |
| Neurodevelopmental Disorder With Microcephaly, Impaired Language, And Gait Abnormalities |
|
Syndactyly, Clinodactyly |
OMIM:619091 |
| Fanconi Anemia, Complementation Group C |
|
Pancytopenia, Ventricular septal defect, Absent thumb, Absent radius, Short thumb, Ectopic kidney... |
OMIM:227645 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Pes planus, Sandal gap, Tapered finger, Secundum atrial septal defect, Preaxial ha... |
OMIM:620072 |
| Waardenburg Syndrome, Type 1 |
|
Sprengel anomaly, Spina bifida, Supernumerary ribs, Supernumerary vertebrae |
OMIM:193500 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hepatomegaly... |
ORPHA:247585 |
| Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Craniosynostosis, Micrognathia, Cleft palate, Thin ribs, Slender long bone, Vesicoureteral reflux... |
OMIM:618265 |
| 19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Recurrent respiratory infections, Toe syndactyly, Congenital hip dislocation, ... |
ORPHA:217346 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly |
ORPHA:1114 |
| Tetraploidy |
|
Micrognathia, Radial club hand, Cleft palate, Aplasia/Hypoplasia of the lungs, Hydronephrosis |
ORPHA:3305 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Hypertrophic cardiomyopathy, Ventricular septal defect |
OMIM:616277 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Noonan Syndrome 9 |
|
Hydroureter, Ventricular septal defect, Short neck, Cryptorchidism, Coarctation of aorta, Pulmoni... |
OMIM:616559 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Bowing of the long bones, Bulging epiphyses, Rickets of the lower limbs, Delayed epiphyseal ossif... |
OMIM:600785 |
| 46,Xy Sex Reversal 4 |
|
Cleft palate, High palate, Ureteropelvic junction obstruction, Hydronephrosis, Anal atresia |
OMIM:154230 |
| Acute Adrenal Insufficiency |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... |
ORPHA:95409 |
| Joubert Syndrome 15 |
|
Micropenis, Preaxial polydactyly, Nephronophthisis |
OMIM:614464 |
| Congenital Disorder Of Glycosylation, Type Iia |
|
Pes planus, Ventricular septal defect, Thoracolumbar kyphoscoliosis, Proximal placement of thumb,... |
OMIM:212066 |
| Intellectual Developmental Disorder, Autosomal Recessive 71 |
|
Micropenis, Prune belly, Ventricular septal defect, Unilateral renal agenesis |
OMIM:618504 |
| Oculodentodigital Dysplasia |
|
Atrial septal defect, Neurogenic bladder, 4-5 finger syndactyly, Enamel hypoplasia, Hip dislocati... |
OMIM:164200 |
| Aredyld Syndrome |
|
Lipoatrophy, Abnormal dental enamel morphology, Splenomegaly, Abnormality of the ureter, Abnormal... |
ORPHA:1133 |
| Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Micromelia, Proximal placement of thumb, Short neck, Micrognathia, Congenita... |
ORPHA:199 |
| Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Vesicoureteral reflux, Abnormal salivary gland morphology, Abnormal dig... |
ORPHA:2363 |
| Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities |
|
Hypoglycemia, Small for gestational age, Insulin-resistant diabetes mellitus, Hyperinsulinemia, D... |
OMIM:262190 |
| Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Pulmonary... |
OMIM:100300 |
| Non-Functioning Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:94080 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Anterior concavity of thoracic verte... |
OMIM:216340 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Broad hallux, Hypospadias, Hand polydactyly, High palate, Broad thumb |
OMIM:239710 |
| Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu... |
OMIM:606519 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Preaxial hand polydactyly, Cleft palate, Micrognathia |
ORPHA:79113 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Camptodactyly of finger, Pectus excavatum, Sm... |
ORPHA:915 |
| Leprechaunism |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Rectal prolapse, Long penis, Hypercalciuri... |
ORPHA:508 |
| Hypotonia, Infantile, With Psychomotor Retardation |
|
Ventricular septal defect |
OMIM:616816 |
| Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Unilateral renal agenesis, Ectopic kidney, Micrognathia, Abnormal rib morphology, Cleft palate, A... |
OMIM:601076 |
| Thauvin-Robinet-Faivre Syndrome |
|
Pes planus, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Long foot, Bowing ... |
OMIM:617107 |
| Coffin-Siris Syndrome 7 |
|
Bicuspid aortic valve, Ventricular septal defect, Sagittal craniosynostosis, Pectus excavatum, Cl... |
OMIM:618027 |
| Ethylene Glycol Poisoning |
|
Addictive alcohol use, Hyperkalemia, Hypocalcemia |
ORPHA:31826 |
| Mandibuloacral Dysplasia Progeroid Syndrome |
|
Micrognathia, Flexion contracture, Palmoplantar hyperkeratosis, High palate, Patent foramen ovale... |
OMIM:619127 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Prominent superficial veins, Lipoatrophy, Micrognathia, Hyperextensibility of the ... |
OMIM:601812 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Micrognathia, Biliary hyperplasia, Protein-losing enteropathy, Hepatoblastoma, Oliguria, Hepatosp... |
ORPHA:731 |
| Common Variable Immunodeficiency |
|
Gastrointestinal stroma tumor, Vasculitis, Bronchiectasis, Anal atresia, Recurrent bronchitis |
ORPHA:1572 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Patent foramen ovale, Hyperlordosis |
OMIM:615156 |
| Lynch Syndrome |
|
Intestinal polyposis, Gastrointestinal hemorrhage, Pancreatic adenocarcinoma, Neoplasm of the pan... |
ORPHA:144 |
| Filippi Syndrome |
|
Finger syndactyly, Enlarged epiphyses, Ventricular septal defect, Supernumerary nipple, Cryptorch... |
ORPHA:3255 |
| Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... |
OMIM:615873 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Pes cavus, Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Pectus excavatum, Micrognath... |
ORPHA:363700 |
| Monosomy 13Q34 |
|
Hypercalcemia, Insulin resistance, Obesity, Pulmonic stenosis, Common atrium |
ORPHA:96168 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Syndactyly, Urinary incontinence |
OMIM:615284 |
| Addison Disease |
|
Hyponatremia, Decreased circulating cortisol level, Salt craving, Hypoglycemia, Hypercalcemia, An... |
ORPHA:85138 |
| Xp22.3 Microdeletion Syndrome |
|
Ectopic anus |
ORPHA:1643 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Acrootoocular Syndrome |
|
Short metacarpal, Small hypothenar eminence, Sandal gap, Decreased palmar creases, Abnormal finge... |
ORPHA:2980 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Stage 5 chronic kidney disease, Tubulointerstitial nephritis, Pol... |
OMIM:616629 |
| Noonan Syndrome 5 |
|
Short neck, Cryptorchidism, Abnormal sternum morphology, Pulmonic stenosis, Atrial septal defect,... |
OMIM:611553 |
| 3-Methylglutaconic Aciduria, Type V |
|
Noncompaction cardiomyopathy, Hypospadias, Dilated cardiomyopathy, 3-Methylglutaric aciduria, 3-M... |
OMIM:610198 |
| Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Osteoporosis, Increased body weight, Increased circulating cortisol level, Abdominal obesity, Hyp... |
OMIM:615954 |
| Shprintzen Omphalocele Syndrome |
|
Omphalocele, Lumbar hyperlordosis, Kyphosis, Narrow chest, Scoliosis, Anal atresia |
OMIM:182210 |
| Igg4-Related Thyroid Disease |
|
Hypocalcemia, Dysphagia |
ORPHA:64744 |
| Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Wide cranial sutures, Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, Hi... |
OMIM:616294 |
| Den Hoed-De Boer-Voisin Syndrome |
|
Lactose intolerance, Ventricular septal defect, Sandal gap, Small hand, 2-3 toe syndactyly, Short... |
OMIM:619229 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Autoimmune hemolytic anemia, Severe B lymphocytopenia, Aplasia of th... |
OMIM:102700 |
| Lymphedema-Distichiasis Syndrome |
|
Proteinuria, Patent ductus arteriosus, Spinal arachnoid cyst, Cleft palate, Varicose veins, Tubul... |
ORPHA:33001 |
| Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology |
ORPHA:1506 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Arachnodactyly, Intestinal pseud... |
ORPHA:73246 |
| Familial Colorectal Cancer Type X |
|
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Cardiac diverti... |
ORPHA:440437 |
| Geroderma Osteodysplasticum |
|
Beaking of vertebral bodies, Hyperextensibility of the finger joints, Kyphoscoliosis, Tibial bowi... |
OMIM:231070 |
| 21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Sacral dimple, Short proximal phalanx of the 2nd finger... |
ORPHA:261323 |
| Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Ventricular septal defect, Cystic renal dysplasia, Ectopic kidney |
OMIM:613730 |
| Craniometaphyseal Dysplasia, Autosomal Dominant |
|
Metaphyseal widening, Flared metaphysis, Abnormal pelvic girdle bone morphology, Abnormality of t... |
OMIM:123000 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Toe syndactyly, Hydroureter, Absence of Stensen duct, Split hand, Xerostomia, Cleft palate, Bladd... |
OMIM:129900 |
| Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities |
|
Secundum atrial septal defect, 2-3 toe cutaneous syndactyly, Decreased patellar reflex, Gastroeso... |
OMIM:620242 |
| Spondylo-Ocular Syndrome |
|
Pes planus, Abnormal intervertebral disk morphology, Ventricular septal defect, Short neck, Platy... |
ORPHA:85194 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Double outlet right ventricle, Aortic valve atresia, Cleft palate |
OMIM:619895 |
| Immunodeficiency 110 With Lymphoproliferation |
|
Secundum atrial septal defect, Recurrent upper respiratory tract infections, Recurrent pneumonia,... |
OMIM:614868 |
| Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Central retinal vessel vascular tortuosity, Finger clinod... |
ORPHA:2751 |
| Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Inguinal hernia, Arachnodactyly, Congenital diaphragmatic herni... |
OMIM:219100 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Neurogenic bladder, Short neck, Secundum atrial septal defect, Protruding tongue, Splenomegaly, M... |
OMIM:608779 |
| Alkuraya-Kucinskas Syndrome |
|
Overlapping toe, Pericardial effusion, Cutaneous syndactyly, Micropenis, High palate, Talipes equ... |
OMIM:617822 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Renal insufficiency, Abnormal acetabulum morphology, Long clavicles, Hypospadias, Postaxial polyd... |
ORPHA:397715 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Finger syndactyly, Toe syndactyly, Hand polydactyly, Arteriovenous malformation, Foot polydactyly |
ORPHA:60040 |
| Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology |
ORPHA:97330 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Gastroesophageal reflux, Micropenis, Hypos... |
ORPHA:268261 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Symphalangism affecting the phalanges of the hand, Hip dysplasi... |
ORPHA:710 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Ventricular septal defect, Single transverse palmar crease, ... |
OMIM:614866 |
| Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Vesicoureteral reflux, Crossed fused renal ectopia, Anal atresia |
OMIM:617466 |
| Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Ectopic kidney, Short neck |
ORPHA:2578 |
| Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction |
|
Hyperglycemia, Elevated hemoglobin A1c, Maturity-onset diabetes of the young |
OMIM:609812 |
| Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Single transverse palmar crease, Pectus exca... |
OMIM:305400 |
| Uremic Pruritus |
|
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen |
ORPHA:94059 |
| Developmental And Epileptic Encephalopathy 90 |
|
Atrial septal defect |
OMIM:301058 |
| Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Gastroesophageal reflux, Scoliosis |
OMIM:617635 |
| Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Osteomalacia, Hypermagnesemia, Hypercalcemia, Hypophosphatemia |
OMIM:600740 |
| Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Hypospadias, Renal hypoplasia, Micropenis, ... |
OMIM:615546 |
| Orofaciodigital Syndrome Ix |
|
Toe syndactyly, Cleft palate, Hand polydactyly, High palate, Camptodactyly, Short tibia, Recurren... |
OMIM:258865 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Conotruncal defect |
OMIM:243440 |
| Sacral Defect With Anterior Meningocele |
|
Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Tethered cord, Sa... |
OMIM:600145 |
| Liver Disease, Severe Congenital |
|
Hyponatremia, Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Elevated circulat... |
OMIM:619991 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Interrupted aortic arch, Coarctation of aorta |
OMIM:107550 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Broad hallux, Urinary incontinence, Patent ductus arteriosus, Narrow palm, 2-3 toe syndactyly, Hi... |
OMIM:619934 |
| Beck-Fahrner Syndrome |
|
Pes planus, Ventricular septal defect, Cardiomegaly, Hip dysplasia, High palate |
OMIM:618798 |
| Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Patent ductus arteriosus, C... |
OMIM:620024 |
| Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Ventricular septal defect, Proteinuria, Talipes calcaneovalgus, Nephrocalcinosis, Renal tubular a... |
OMIM:613404 |
| Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Atrial septal defect, Prominent metopic ridge, Dilation of Virchow-Robin spaces, Congenital hip d... |
OMIM:619512 |
| Zellweger Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption, Micrognathia... |
ORPHA:912 |
| Cardiomyopathy, Dilated, 1Oo |
|
Atrial septal defect, Dilated cardiomyopathy |
OMIM:620247 |
| Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Ventricular septal defect, Atelectasis, Cystic pattern on pulmo... |
OMIM:610978 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Talipes, Congenital diaphragmatic hernia, Aplasia/... |
ORPHA:1647 |
| Joubert Syndrome 14 |
|
Ventricular septal defect, Postaxial polydactyly, Cleft palate, Renal cyst, Intracranial hemorrhage |
OMIM:614424 |
| Lethal Acantholytic Erosive Disorder |
|
Cardiomegaly, 4-5 finger syndactyly, 2-3 finger syndactyly, Cleft palate, Cardiomyopathy, Clinoda... |
ORPHA:158687 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Intestinal perforation, Thrombocytopenia, Rectal prolapse, Leukocytosis,... |
ORPHA:90038 |
| Joubert Syndrome 21 |
|
Splenomegaly, Renal cyst, Bell-shaped thorax, Pulmonary hypoplasia, Short ribs, Dysphagia |
OMIM:615636 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1 |
|
Proximal radio-ulnar synostosis, Syndactyly, Radial bowing, Ulnar bowing, Hip dislocation, Clinod... |
OMIM:605432 |
| Joubert Syndrome 27 |
|
Polydactyly |
OMIM:617120 |
| Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Hiatus hernia, Malabsorption, Rib fusion, Sm... |
ORPHA:50 |
| Nestor-Guillermo Progeria Syndrome |
|
Microretrognathia, Prominent superficial veins, Wide cranial sutures, Lipoatrophy, Left atrial en... |
OMIM:614008 |
| Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Elevated creatine kinase after exercise, Hypercalcemia |
ORPHA:284426 |
| Hyperparathyroidism 2 With Jaw Tumors |
|
Hypercalcemia |
OMIM:145001 |
| Lumbar Syndrome |
|
Hypospadias, Ectopic anus, Vesicoureteral reflux, Micropenis, Bladder exstrophy, Anal atresia |
ORPHA:83628 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Clubbing, Pedal edema, Atrial septal defect, Pa... |
ORPHA:439 |
| Congenital Sialidosis Type 2 |
|
Cherry red spot of the macula, Protruding tongue, Polydactyly, Abnormal heart morphology |
ORPHA:93400 |
| Paternal Uniparental Disomy Of Chromosome 6 |
|
Ventricular septal defect, Cardiomegaly, Micrognathia, Cryptorchidism, Patent ductus arteriosus, ... |
ORPHA:96191 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Contracture of the proximal interphalangeal joint of the 3rd finger, Short metacarpal, Brachydact... |
OMIM:612576 |
| Distal Deletion 19P |
|
Long toe, Vaginal hernia, Ventricular septal defect, Arachnodactyly, Cleft palate, Keloids, Tricu... |
ORPHA:96129 |
| Orofaciodigital Syndrome I |
|
Syndactyly, Proteinuria, Hamartoma of tongue, Cleft palate, Abnormal heart morphology, Tongue nod... |
OMIM:311200 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Prominent veins on trunk, Coxa vara, High palate, Emphysema, Cryptorc... |
ORPHA:2834 |
| Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Atrial septal defect, Nephrocalcinosis |
ORPHA:500533 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Ventricular septal defect, Aggressive behavior, Hair-pulling, Polyphagia, Self-injur... |
OMIM:620330 |
| Hallermann-Streiff Syndrome |
|
Recurrent respiratory infections, Wormian bones, Abnormality of the hand, Hyperlordosis, Pectus e... |
OMIM:234100 |
| Joubert Syndrome 39 |
|
Hypoplastic left heart, Polycystic kidney dysplasia, Joint contracture of the 5th finger, Postaxi... |
OMIM:619562 |
| Autosomal Recessive Cutis Laxa Type 1 |
|
Peripheral pulmonary artery stenosis, Small bowel diverticula, Inguinal hernia, Delayed cranial s... |
ORPHA:90349 |
| Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Atrial septal defect, Nephrocalcinosis |
OMIM:611087 |
| Keutel Syndrome |
|
Ventricular septal defect, Recurrent bronchitis, Short hallux, Premature fusion of phalangeal epi... |
OMIM:245150 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Pectus excavatum, Asymmetry of the thorax, Abnormal mitral valve morphology, S... |
ORPHA:1969 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
| Diets-Jongmans Syndrome |
|
Heterotaxy, Interrupted inferior vena cava with azygous continuation, Ventricular septal defect |
OMIM:618846 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Esophageal stenosis, Anal fissure, Esophageal stricture, Dilated cardiomyopathy, Dysphagia, Gastr... |
ORPHA:89842 |
| Apert Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Micromelia, Esophageal atresi... |
ORPHA:87 |
| Insulin-Resistance Syndrome Type B |
|
Fasting hyperinsulinemia, Increased body weight, Glucose intolerance, Hypoalbuminemia, Fasting hy... |
ORPHA:2298 |
| Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Split hand, Absent hand, Oligodactyly |
ORPHA:2440 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Craniosynostosis, Irregular carpal bones, Split h... |
OMIM:252600 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 5 |
|
Atrial septal defect |
OMIM:615160 |
| Grant Syndrome |
|
Wormian bones, Micrognathia, Down-sloping shoulders, Tibial bowing |
OMIM:138930 |
| Osteopetrosis, Autosomal Dominant 2 |
|
Fractures of the long bones, Abnormality of the vertebral endplates, Abnormal pelvic girdle bone ... |
OMIM:166600 |
| Blue Rubber Bleb Nevus |
|
Rectal prolapse, Iron deficiency anemia, Intestinal bleeding, Volvulus, Intussusception, Thromboc... |
OMIM:112200 |
| Mucopolysaccharidosis Type 2 |
|
Irregularity of vertebral bodies, Inguinal hernia, Abnormal heart valve morphology, Abnormal pulm... |
ORPHA:580 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, Postaxial hand pol... |
OMIM:209900 |
| Lethal Congenital Contracture Syndrome 2 |
|
Arthrogryposis multiplex congenita, Dilated cardiomyopathy, Ventricular septal defect, Hydronephr... |
OMIM:607598 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Diabetes mellitus, Myocarditis, Hyperkalemia, Hypocalcemia |
ORPHA:544482 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Recurrent respiratory infections, Hypospadias, Cleft soft palate, Short neck, Micrognathia, Crypt... |
ORPHA:2282 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Kyphosis, Tibial bowing, Femoral bowing, ... |
OMIM:616482 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Hypospadias, Aganglionic megacolon, Pectus exc... |
OMIM:235730 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Bulging epiphyses, Renal insufficiency, Enlargement of the ankles, Bowing of the legs, Enlargemen... |
OMIM:300554 |
| Wrinkly Skin Syndrome |
|
Congenital hip dislocation, Coxa vara, High palate, Microretrognathia, Scapular winging, Cryptorc... |
OMIM:278250 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Syndactyly, Sandal gap, Widely spaced toes, Mitten deformity, Clinodactyly of the 5th finger, Tap... |
OMIM:609638 |
| Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Pulmonic stenosis |
OMIM:178650 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Urinary incontinence, Hiatus hernia, Urinary urgency, Abnormal pelvic girdle bone morphology, Gas... |
OMIM:601162 |
| Dent Disease 1 |
|
Bowing of the legs, Delayed epiphyseal ossification, Femoral bowing, Tibial bowing, Nephrocalcino... |
OMIM:300009 |
| Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Enlarged ovaries, Ventricular septal defect, Long penis, Fur... |
ORPHA:769 |
| Hennekam Syndrome |
|
Pericardial effusion, Splenomegaly, Hypocalcemia, Craniosynostosis |
ORPHA:2136 |
| Osteopetrosis With Renal Tubular Acidosis |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Hypocalcemia, Osteopetrosis, Fa... |
ORPHA:2785 |
| Crane-Heise Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ... |
ORPHA:1512 |
| Eem Syndrome |
|
Finger syndactyly, Ectrodactyly |
ORPHA:1897 |
| Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Overlapping toe, Single transverse palmar crease, Ventricular septal defect, Sup... |
OMIM:613884 |
| Coffin-Siris Syndrome 12 |
|
Micrognathia, High palate, Gastroesophageal reflux, Patent foramen ovale, Hypospadias, Short thum... |
OMIM:619325 |
| Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
| Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Bicuspid aortic valve |
OMIM:614475 |
| Ebstein Malformation Of The Tricuspid Valve |
|
Abnormal endocardium morphology, Patent ductus arteriosus, Ebstein anomaly of the tricuspid valve... |
ORPHA:1880 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele |
OMIM:248450 |
| Congenital Pulmonary Valvar Stenosis |
|
Atrial septal defect |
ORPHA:3189 |
| Ring Chromosome 13 Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypospadias, Aplasia/hypoplasia involving bones of the hand, Abs... |
ORPHA:96176 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Polydactyly, Abnormal heart morphology |
ORPHA:314655 |
| Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hypercalcemia, Hypophosphatemia |
OMIM:156400 |
| Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Metaphyseal dysplasia, Short metacarpal, Ventricular septal defect, Craniosynostosis, Micrognathi... |
OMIM:250410 |
| Eisenmenger Syndrome |
|
Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Clubbing, Hypochromic m... |
ORPHA:97214 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Palmar pits, Pectus excavatum, Kyphosis, Plantar pits, Abnormal rib ... |
ORPHA:77301 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Pes planus, Cholelithiasis, Tapered finger, Hyperlordosis, Hip dislocation, Cleft palate, Genu va... |
OMIM:301066 |
| Bardet-Biedl Syndrome 12 |
|
Hydroureter, Postaxial hand polydactyly, Postaxial foot polydactyly, Hydronephrosis, Polydactyly,... |
OMIM:615989 |
| D-Glyceric Aciduria |
|
Single transverse palmar crease, Patent ductus arteriosus, Aminoaciduria, Gastroesophageal reflux... |
OMIM:220120 |
| Adenocarcinoma Of The Anal Canal |
|
Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung,... |
ORPHA:424016 |
| Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145980 |
| Joubert Syndrome 37 |
|
Micropenis, High palate, Hydronephrosis, Postaxial polydactyly |
OMIM:619185 |
| Familial Cutaneous Collagenoma |
|
Atrial septal defect, Cardiomyopathy |
ORPHA:53296 |
| Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Secundum atrial septal defect, Micrognathia, Flexion contracture, Hypoplasia of the t... |
OMIM:264090 |
| Immunodeficiency 40 |
|
Rectal fistula, Respiratory tract infection, Recurrent pneumonia, T lymphocytopenia, Interstitial... |
OMIM:616433 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Ventricular septal defect, Increased intervertebral space, Broad ischia, D... |
OMIM:619727 |
| Bardet-Biedl Syndrome 20 |
|
Proteinuria, Postaxial polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Atrial septal... |
OMIM:619471 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Protruding tongue, Recurrent pneumonia, Scoliosis, Patent foramen ovale, Hydronephrosis |
OMIM:619179 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Anal stenosis, Hypospadias, Abnormal heart morphology |
OMIM:601499 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Gastrointestinal dysmotility, Abnormal spinal cord morphology, Scoliosis, Camptodactyly... |
ORPHA:88628 |
| Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Toe syndactyly, Micrognathia, Cryptorchidism, Split hand, Abnormal rib morphol... |
ORPHA:1300 |
| Lambotte Syndrome |
|
Preaxial foot polydactyly, Ventricular septal defect |
OMIM:245552 |
| Goldberg-Shprintzen Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Tapered finger, Short neck, Increased femoral a... |
OMIM:609460 |
| Joubert Syndrome 33 |
|
Syndactyly |
OMIM:617767 |
| Ramos-Arroyo Syndrome |
|
Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Smooth tongue, Atrial septal defect |
ORPHA:1051 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Barrel-shaped chest, Ventricular septal defect, Kyphoscoliosis, Kyphosis, Metaphyseal widening, T... |
OMIM:259770 |
| Joubert Syndrome 3 |
|
Atrial septal defect, Stage 5 chronic kidney disease, Nephronophthisis |
OMIM:608629 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Hypoplasia of penis, Toe syndactyly, Camptodactyly of finger, Umbilical hernia, Brea... |
ORPHA:920 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Coarctation of aorta, Anteriorly placed anus, H... |
OMIM:618748 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger |
OMIM:182230 |
| Trisomy 20P |
|
Finger syndactyly, Hypospadias, Camptodactyly of finger, Preaxial hand polydactyly, Abnormality o... |
ORPHA:261318 |
| Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypermagnesemia, Hypercalcemia |
OMIM:145981 |
| Multiple Myeloma |
|
Osteopenia, Hypercalcemia, Splenomegaly, Elevated circulating creatinine concentration, Weight lo... |
ORPHA:29073 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Chronic gastritis, Bicuspid aortic valve, Single transverse palmar crease, Cerebral arteriovenous... |
OMIM:150230 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Camptodactyly of finger, Pectus excavatum, High, narrow palate, Cryptorchidism, ... |
ORPHA:1101 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Progressive flexion contractures, Equinus calcaneus, 2-3 toe syndactyly, Bi... |
ORPHA:522077 |
| Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Villous atrophy, Medial calcification of large arteries, Functional abnormality of the bladder, T... |
ORPHA:391487 |
| Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Secundum atrial septal defect, Pulmonary fibrosis |
OMIM:611926 |
| Pancreatic insufficiency, combined exocrine |
|
Anal atresia |
OMIM:260450 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Micrognathia, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Gastroeso... |
ORPHA:534 |
| Fanconi Anemia, Complementation Group N |
|
Short thumb, Aplastic anemia, Ventricular septal defect, Short neck |
OMIM:610832 |
| Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Anal stenosis, 2-3 toe cutaneous syndactyly, 3-4 finger cutaneous syndactyly, Dysphagia, Cutaneou... |
OMIM:620029 |
| Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Recurrent respiratory infections, Thoracic scoliosis, Absent nipple, Broad hallux, Single transve... |
OMIM:620186 |
| Lymphatic Malformation 7 |
|
Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pleural effusion, Pulmon... |
OMIM:617300 |
| Autosomal Dominant Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, Decreased sku... |
ORPHA:93325 |
| Beta-Ureidopropionase Deficiency |
|
Bladder exstrophy, Anal atresia |
OMIM:613161 |
| Elsahy-Waters Syndrome |
|
Anal stenosis, Hypospadias, Pectus excavatum, Bilateral cryptorchidism, Abnormality of the anus, ... |
OMIM:211380 |
| Bladder Exstrophy And Epispadias Complex |
|
Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Abn... |
OMIM:600057 |
| Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Ventricular septal defe... |
ORPHA:209905 |
| Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Syndactyly, Narrow joint spaces of the elbow, Hypospadias, High, narrow palate, Horseshoe kidney,... |
ORPHA:96182 |
| Johanson-Blizzard Syndrome |
|
Colonic diverticula, Atrial septal defect, Hypospadias, Single transverse palmar crease, Urethrov... |
OMIM:243800 |
| Monosomy 9P |
|
Hypospadias, Proximal placement of thumb, Short neck, Abnormality of the tarsal bones, Cryptorchi... |
ORPHA:261112 |
| Secondary Intestinal Lymphangiectasia |
|
Reduced circulating transferrin concentration, Hypoalbuminemia, Hypocholesterolemia, Constrictive... |
ORPHA:90363 |
| Alzahrani-Kuwahara Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Hypospadias, Persi... |
OMIM:619268 |
| Developmental And Epileptic Encephalopathy 18 |
|
Atrial septal defect |
OMIM:615476 |
| Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Hypospadias, Ventricular septal defect, Increased mean platelet volume, Avascula... |
OMIM:222470 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Gastrointestinal hemorrhage, Pes planus, Joint dislocation, Congenital hip dislocation, Arachnoda... |
OMIM:225400 |
| Trichothiodystrophy |
|
Joint dislocation, Multiple joint contractures, Ventricular septal defect, Craniosynostosis, Hypo... |
ORPHA:33364 |
| Atrial Septal Defect 5 |
|
Secundum atrial septal defect |
OMIM:612794 |
| Atrial Septal Defect 3 |
|
Secundum atrial septal defect |
OMIM:614089 |
| Diamond-Blackfan Anemia 12 |
|
Macrocytic anemia, Ventricular septal defect, Reticulocytopenia, Normochromic anemia, Triphalange... |
OMIM:615550 |
| Sacral Agenesis With Vertebral Anomalies |
|
Anal atresia, Unilateral renal agenesis, Persistent cloaca |
OMIM:615709 |
| Coxoauricular Syndrome |
|
Abnormal pelvic girdle bone morphology, Hip dislocation, Abnormal femur morphology, Micromelia |
ORPHA:1508 |
| Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
| Congenital Disorder Of Glycosylation, Type Iiw |
|
Pes planus, Inguinal hernia, Membranoproliferative glomerulonephritis, Ventricular septal defect,... |
OMIM:619525 |
| Sclerosteosis 1 |
|
Syndactyly, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly, Deviation of finger, Abno... |
OMIM:269500 |
| Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Anal atresia, Gastroesophageal reflux, Scoliosis |
ORPHA:3164 |
| Congenital Tricuspid Valve Dysplasia |
|
Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tricuspid valve a... |
ORPHA:555874 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Abnormal palmar dermatoglyphics, Cryptorchidism, Cleft palate, Multiple bladder dive... |
ORPHA:2728 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Hypospadias, Submucous cleft hard palate, Flexion contracture, Ankle clonus, Aortic root aneurysm... |
OMIM:618891 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Calcinosis, Hepatomegaly, Osteopenia, Impaired glucose tolerance, Hyperlipidemia, Insulin-resista... |
OMIM:248370 |
| Larsen Syndrome |
|
Finger syndactyly, Accessory carpal bones, Cleft palate, Abnormal epiphysis morphology, Broad dis... |
ORPHA:503 |
| Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Hiatus hernia, Spina bifida, Recurren... |
OMIM:304050 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Inguinal hernia, Ventricular septal defect, Short neck, Cryptorchidism, Deep palmar crease, Abnor... |
OMIM:607721 |
| Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
| Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Elbow dislocation, Kyphosis, Abnormal rib morphology, Bifid femu... |
ORPHA:2769 |
| Bartter Syndrome, Type 1, Antenatal |
|
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Small for gestatio... |
OMIM:601678 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Finger joint hypermobility, Emphysema, Repeated pneumothoraces... |
OMIM:130050 |
| Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
| Cri-Du-Chat Syndrome |
|
Syndactyly, Short metacarpal, Hypospadias, Single transverse palmar crease, Metatarsus adductus, ... |
OMIM:123450 |
| Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Hypercalcemia |
OMIM:171420 |
| Renal Tubular Dysgenesis |
|
Anuria, Pulmonary hypoplasia |
OMIM:267430 |
| Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Osteomalacia, Hypercalcemia, Hypermagnesemia, Hypocalcemic seizures |
ORPHA:405 |
| Dubowitz Syndrome |
|
Hyperactivity, Hypocholesterolemia |
OMIM:223370 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Finger syndactyly, Hypospadias, Cleft palate |
ORPHA:66629 |
| Cutis Laxa, Autosomal Dominant 1 |
|
Inguinal hernia, Ventricular septal defect, Bronchiectasis, Uterine prolapse, Emphysema, Peripher... |
OMIM:123700 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Finger syndactyly, Toe syndactyly, Hypospadias, Short hallux, Abnormal metacarpal morphology |
ORPHA:3224 |
| Myopathy With Extrapyramidal Signs |
|
Ventricular septal defect, Short neck, Splenomegaly, Leukocytosis, Calf muscle hypertrophy |
OMIM:615673 |
| Somatostatinoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Increased circulating cort... |
ORPHA:97283 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Pectus excavatum, Chronic kidney disease, Ves... |
OMIM:616580 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Ventricular septal defect, Hypospadias, Submucous cleft hard palate, Horseshoe kidney, Vesicouret... |
OMIM:619103 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, Aortic valve stenos... |
OMIM:300960 |
| Familial Renal Glucosuria |
|
Elevated hemoglobin A1c, Insulin resistance, Glycosuria, Hyperglycemia, Abnormal oral glucose tol... |
ORPHA:69076 |
| Faciocardiomelic Syndrome |
|
Micrognathia, Cuboid-shaped vertebral bodies, Slender long bone, Polydactyly, Narrow chest, Hypop... |
OMIM:612731 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Hypospadias, Pectus excavatum, Small hand, Short palm, Clinodac... |
ORPHA:1786 |
| Deafness-Craniofacial Syndrome |
|
Patent ductus arteriosus, Bifid tongue |
ORPHA:3241 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Patent foramen ovale |
OMIM:618832 |
| Orofaciodigital Syndrome Type 1 |
|
Lobulated tongue, High palate, Clinodactyly of the 5th finger, Finger syndactyly, Multicystic kid... |
ORPHA:2750 |
| Aspartylglucosaminuria |
|
Recurrent respiratory infections, Pes planus, Aspartylglucosaminuria, Inguinal hernia, Abnormal m... |
ORPHA:93 |
| Microphthalmia, Lenz Type |
|
Finger syndactyly, Abnormal clavicle morphology, Hydroureter, Hypospadias, Camptodactyly of finge... |
ORPHA:568 |
| Noonan Syndrome With Multiple Lentigines |
|
Abnormal endocardium morphology, Abnormal pulmonary valve morphology, Mitral valve prolapse, Pulm... |
ORPHA:500 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Congenital Disorder Of Glycosylation, Type It |
|
Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Cleft palate, Coar... |
OMIM:614921 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Syndactyly, Down-sloping shoulders, Metatarsus adductus, Pectus excavatum, Broad palm, Narrow pal... |
OMIM:227330 |
| Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Hypoplasia of the radius, Cle... |
ORPHA:246 |
| Vipoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Hypokalemia, Increased cir... |
ORPHA:97282 |
| Hereditary Mixed Polyposis Syndrome |
|
Refractory anemia, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D... |
ORPHA:157794 |
| Li-Fraumeni Syndrome |
|
Acute myeloid leukemia, Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm... |
ORPHA:524 |
| Dohle Bodies And Leukemia |
|
Secundum atrial septal defect |
OMIM:223350 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Pectus excavatum, Shortening of all distal phalanges of the fingers, Anter... |
ORPHA:247262 |
| Cystic Fibrosis |
|
Recurrent respiratory infections, Meconium ileus, Malabsorption, Rectal prolapse, Pneumothorax, B... |
ORPHA:586 |
| Lowry-Maclean Syndrome |
|
Atrioventricular canal defect, Coarctation of aorta |
ORPHA:2409 |
| Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Secundum atrial septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:614300 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Absent thumb, Aplasia/Hypoplasia of the distal phalanges of th... |
ORPHA:1234 |
| Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
| Holoprosencephaly 7 |
|
Omphalocele, Bilateral cleft palate, Cleft palate, Unilateral cleft palate, Median cleft palate, ... |
OMIM:610828 |
| Kbg Syndrome |
|
Syndactyly, Single transverse palmar crease, Epispadias, Rib fusion, Cutaneous syndactyly, Thorac... |
OMIM:148050 |
| Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria |
OMIM:258900 |
| Cardiomyopathy, Familial Hypertrophic, 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri... |
OMIM:612098 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, Aspiration pne... |
OMIM:619167 |
| Nijmegen Breakage Syndrome |
|
Anal stenosis, Anorectal anomaly, Cleft palate, Pollakisuria, Anal atresia |
ORPHA:647 |
| Exercise-Induced Malignant Hyperthermia |
|
Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
ORPHA:466650 |
| Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ... |
ORPHA:3003 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Abnormal distal phalanx morphology of finger, Clubbing o... |
ORPHA:783 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Abnormal morphology of ulna, A... |
ORPHA:570 |
| Whim Syndrome |
|
Abnormal small intestine morphology, Lymphopenia, Pneumonia, Respiratory tract infection, Atelect... |
ORPHA:51636 |
| Camptodactyly Syndrome, Guadalajara Type 3 |
|
Short neck, Abnormal rib morphology, Small hand, Short foot, Micropenis, Spina bifida occulta, Th... |
ORPHA:488434 |
| Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Syndactyly, Pectus excavatum, Broad palm, Clinodactyly of the 5th finger, Bifid uvula |
OMIM:618505 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Narrow palate, Abnormal hip bone morphology, Synostos... |
ORPHA:1323 |
| Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome |
|
Syndactyly, Congenital bilateral hip dislocation |
ORPHA:404451 |
| Combined Oxidative Phosphorylation Deficiency 9 |
|
Tubulointerstitial nephritis, Hypertrophic cardiomyopathy, Patent foramen ovale |
OMIM:614582 |
| Legius Syndrome |
|
Nephrolithiasis, Desmoid tumors, Mitral valve prolapse, Diaphyseal dysplasia, Abnormal sternum mo... |
ORPHA:137605 |
| Multiple Endocrine Neoplasia, Type I |
|
Increased circulating cortisol level, Hypoglycemia, Hypercalcemia |
OMIM:131100 |
| Mullegama-Klein-Martinez Syndrome |
|
Cleft palate, Coarctation of aorta, Submucous cleft of soft and hard palate, Hypoplastic left hea... |
OMIM:301022 |
| Vici Syndrome |
|
Recurrent respiratory infections, Lymphopenia, Micrognathia, Dilated cardiomyopathy, Neutropenia,... |
OMIM:242840 |
| Immunodeficiency 87 And Autoimmunity |
|
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Atrophic gastritis, Villous atrop... |
OMIM:619573 |
| Primary Aldosteronism, Seizures, And Neurologic Abnormalities |
|
Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop... |
OMIM:615474 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Intraventricular hemorrhage, Syndactyly, Pectus carinatum |
OMIM:616430 |
| Chondrodysplasia-Difference Of Sex Development Syndrome |
|
Short metacarpal, Broad long bones, Micromelia, Abnormal shoulder morphology, Abnormal pelvic gir... |
ORPHA:1422 |
| Blepharocheilodontic Syndrome 2 |
|
Cutaneous syndactyly |
OMIM:617681 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Prominent metopic ridge, Ventricular septal defect, Submucous c... |
OMIM:608670 |
| Ritscher-Schinzel Syndrome 3 |
|
Atrioventricular canal defect |
OMIM:619135 |
| Knobloch Syndrome 2 |
|
Recurrent respiratory infections, Micrognathia, Pyloric stenosis, Patent ductus arteriosus, Abnor... |
OMIM:618458 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Syndactyly, Clinodactyly |
OMIM:618087 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Sydney crease, Sandal gap, Decreased response to growth hormone stimulation test, ... |
ORPHA:506358 |
| Glucagonoma |
|
Hepatomegaly, Diabetes mellitus, Hypercalcemia, Anorexia, Weight loss, Increased circulating cort... |
ORPHA:97280 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:276621 |
| Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Weight loss, Dysphagia, Polydipsia |
ORPHA:143 |
| Perlman Syndrome |
|
Distal ileal atresia, Renal hamartoma, Congenital diaphragmatic hernia, Micrognathia, Cryptorchid... |
OMIM:267000 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Horseshoe kidney, Micropenis, Cleft palate, Radioulnar synostosis, Clinodac... |
OMIM:248340 |
| Diamond-Blackfan Anemia 4 |
|
Atrial septal defect |
OMIM:612527 |
| Blepharonasofacial Malformation Syndrome |
|
Finger syndactyly, Cleft palate |
ORPHA:1252 |
| Choanal Atresia |
|
Tracheomalacia, Polydactyly |
ORPHA:137914 |
| Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the gastrointestinal tract, Finger syndactyly, Camptodactyly of finger, Abnormal p... |
ORPHA:2907 |
| Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Atrial septal defect, Patent ductus arteriosus |
OMIM:602482 |
| Anemia, Congenital Dyserythropoietic, Type Ib |
|
Syndactyly |
OMIM:615631 |
| Osteopetrosis, Autosomal Dominant 1 |
|
Abnormal pelvic girdle bone morphology, Abnormality of the vertebral column, Thickened cortex of ... |
OMIM:607634 |
| Ppoma |
|
Hepatomegaly, Hypercalcemia, Anorexia, Weight loss, Increased circulating cortisol level |
ORPHA:97278 |
| Craniodigital-Intellectual Disability Syndrome |
|
Finger syndactyly |
ORPHA:1514 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Anal atresia, Cleft palate |
OMIM:236670 |
| Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly |
|
Syndactyly, Broad hallux, Single transverse palmar crease, Micromelia, Sandal gap, Brachydactyly |
OMIM:614800 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Abnormal spinal cord morphology |
ORPHA:139578 |
| Bdv Syndrome |
|
Atrial septal defect, Cryptorchidism, Micropenis, Micrognathia |
OMIM:619326 |
| Pili Torti-Onychodysplasia Syndrome |
|
Palmoplantar keratoderma, Cleft palate, Cutaneous syndactyly |
ORPHA:2890 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Finger syndactyly, Ventricular septal defect, Abnormal dental enamel morphology, Submucous cleft ... |
ORPHA:1071 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Long fingers, Pectus ... |
OMIM:617527 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, Finger syndactyly, High palate, Proximal placement of thumb |
ORPHA:139471 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Hematuria, Tubulointerstitial nephritis, Ventricular septal defect, Proteinuria |
OMIM:616901 |
| Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
| Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Short neck, Secundum atrial septal defect, Pulmonic stenosis, Enamel hypoplasia, Bifid uvula |
OMIM:615802 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Ventricular septal defect |
OMIM:619908 |
| Combined Oxidative Phosphorylation Deficiency 15 |
|
Inguinal hernia, Ventricular septal defect, Single transverse palmar crease, Small hand, Ventricu... |
OMIM:614947 |
| Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Syndactyly, Aminoaciduria, Ketonuria, High palate |
OMIM:614520 |
| Lipodystrophy, Familial Partial, Type 2 |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Insulin-resistant di... |
OMIM:151660 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Anal stenosis, Toe syndactyly, Hydroureter, Absence of Stensen duct, Split hand, Megacystis, Uret... |
OMIM:604292 |
| Bardet-Biedl Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Multicystic kidney dysplasia, Postaxial hand polydactyly,... |
ORPHA:110 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Bilateral renal hypoplasia, Preaxial polydactyly, Cleft ... |
OMIM:243605 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
| Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Dysphagia, Polydipsia |
ORPHA:99880 |
| Diamond-Blackfan Anemia 5 |
|
Ventricular septal defect, Hypospadias |
OMIM:612528 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Ventricular septal defect, Flexion contracture, Corneal scarring, High palate, Talipes equinovaru... |
OMIM:614653 |
| Acrofacial Dysostosis, Palagonia Type |
|
Finger syndactyly, Small hand, High, narrow palate, Short 4th metacarpal |
ORPHA:1787 |
| Meckel Syndrome |
|
Accessory spleen, Ureteral duplication, Bowing of the long bones, Multicystic kidney dysplasia, P... |
ORPHA:564 |
| Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Intracr... |
ORPHA:369929 |
| Adnp Syndrome |
|
Broad hallux, Single transverse palmar crease, Sandal gap, Urinary incontinence, Abnormal toe mor... |
ORPHA:404448 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Persistent left superior vena cava, Ventricula... |
OMIM:618775 |
| Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Anteriorly placed anus, Ebstein anomaly of the tricuspid valve, Unilateral renal agenesis, Rectov... |
OMIM:608980 |
| Pancreatic And Cerebellar Agenesis |
|
Reduced subcutaneous adipose tissue, Secundum atrial septal defect, Flexion contracture, Pectus c... |
OMIM:609069 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Patent ductus arteriosus, Dilated cardiomyopathy, Patent foramen ovale, Concentric hypertrophic c... |
OMIM:610505 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Hip dislocation, Short middle phalanx of finger, Cli... |
ORPHA:1005 |
| Lissencephaly 9 With Complex Brainstem Malformation |
|
Ventricular septal defect, Dysphagia |
OMIM:618325 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Anal fissure, Perianal abscess, Ulcerative colitis, Nephrotic syndrome, Crohn's disease |
OMIM:618935 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Atrial septal defect, Thrombocytopenia, Scoliosis |
ORPHA:457351 |
| Tukel Syndrome |
|
Carpal synostosis, Syndactyly, Carpal bone aplasia, Postaxial oligodactyly |
OMIM:609428 |
| Short Stature With Microcephaly And Distinctive Facies |
|
Syndactyly, Short digit, Proximal placement of thumb, Talipes equinovarus, Short distal phalanx o... |
OMIM:615789 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Early Infantile Epileptic Encephalopathy |
|
Ventricular septal defect, Cleft palate, Ureterocele, Short finger, Broad finger, Umbilical herni... |
ORPHA:1934 |
| 8Q22.1 Microdeletion Syndrome |
|
Finger syndactyly, Submucous cleft hard palate, Sandal gap, Camptodactyly of finger |
ORPHA:178303 |
| Severe Achondroplasia-Developmental Delay-Acanthosis Nigricans Syndrome |
|
Abnormal clavicle morphology, Metaphyseal chondrodysplasia, Tibial bowing, Femoral bowing, Aplasi... |
ORPHA:85165 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Hypocalcemic tetany, Failure to thrive |
ORPHA:83471 |
| Grfoma |
|
Hepatomegaly, Hypercalcemia, Anorexia, Weight loss, Increased circulating cortisol level |
ORPHA:97261 |
| X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Atrial septal defect, Macroglossia |
ORPHA:93947 |
| Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Leydig cell neoplasia, Ovarian serous cystaden... |
ORPHA:1359 |
| Methylcobalamin Deficiency Type Cble |
|
Hemolytic-uremic syndrome, Syndactyly, Clinodactyly |
ORPHA:2169 |
| Osteopetrosis, Autosomal Recessive 7 |
|
Hepatomegaly, Abnormal trabecular bone morphology, Splenomegaly, Osteopetrosis, Hypocalcemic seiz... |
OMIM:612301 |
| Aica-Ribosuria Due To Atic Deficiency |
|
Secundum atrial septal defect, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level |
OMIM:608688 |
| Intellectual Developmental Disorder, Autosomal Recessive 72 |
|
Secundum atrial septal defect |
OMIM:618665 |
| Lymphatic Malformation 13 |
|
Atrial septal defect, Patent ductus arteriosus, Patent foramen ovale, Hydrocele testis |
OMIM:620244 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cleft palate, High palate, Camptodactyly, Micropenis, Absent palmar... |
OMIM:614230 |
| Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias |
ORPHA:782 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Hypercalcemia, Weight loss |
ORPHA:29072 |
| Encephalocraniocutaneous Lipomatosis |
|
Lipodystrophy, Coarctation of aorta, Multiple lipomas, Abnormal aortic morphology, Interrupted ao... |
ORPHA:2396 |
| Mitchell-Riley Syndrome |
|
Jejunal atresia, Intestinal malrotation, Malabsorption, Anteriorly placed anus, Acholic stools, M... |
OMIM:615710 |
| Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
| Isolated Cleft Lip |
|
Situs inversus totalis, Umbilical hernia, Velopharyngeal insufficiency, Talipes equinovarus |
ORPHA:199302 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Narrow palate, ... |
ORPHA:794 |
| Proboscis Lateralis |
|
Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, Unilateral renal agenesis, Patent d... |
ORPHA:141099 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly |
ORPHA:1942 |
| Long Qt Syndrome 8 |
|
Syndactyly |
OMIM:618447 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Recurrent respiratory infections, Pes planus, Ventricular septal defect, High, narrow palate, Hem... |
OMIM:619575 |
| Culler-Jones Syndrome |
|
Cleft palate, Micropenis, Postaxial polydactyly |
OMIM:615849 |
| Knobloch Syndrome 1 |
|
Pyloric stenosis, Patent ductus arteriosus, Bifid ureter, Spina bifida occulta, Hydronephrosis |
OMIM:267750 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Single transverse palmar crease, Ventricular septal defect, Hyp... |
OMIM:619475 |
| Choroidal Atrophy-Alopecia Syndrome |
|
Finger syndactyly |
ORPHA:1433 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Sacral dimple, Genu recurvatum, Pes pl... |
OMIM:619539 |
| Malakoplakia |
|
Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflammation, Urinary urg... |
ORPHA:556 |
| Isolated Posterior Meningocele |
|
Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Occipital meningocele |
ORPHA:268810 |
| Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome |
|
Gastroesophageal reflux, Patent foramen ovale |
ORPHA:542306 |
| Ebstein Anomaly |
|
Atrial septal defect, Ebstein anomaly of the tricuspid valve |
OMIM:224700 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Renal insufficiency, Glomerulonephritis, Anal fissure, Chronic kidney disease... |
ORPHA:79408 |
| Primary Sjögren Syndrome |
|
Normocytic anemia, Bronchitis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Vasculitis, ... |
ORPHA:289390 |
| Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Phimosis, Urethral stenosis, Palmoplantar hyperkeratosis, Dys... |
OMIM:173650 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Abnormal penis morphology, Finger syndactyly, Hypospadias, Aplastic clavicle, Abnormal metacarpal... |
ORPHA:2658 |
| Zollinger-Ellison Syndrome |
|
Increased circulating cortisol level, Increased glucagon level, Hypercalcemia, Weight loss |
ORPHA:913 |
| Pheochromocytoma |
|
Hypercalcemia |
OMIM:171300 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Finger syndactyly, Toe syndactyly, Abnormality of the ureter, Palmoplantar hyperkeratosis, Bilate... |
ORPHA:3253 |
| Adrenomyeloneuropathy |
|
Back pain, Urinary incontinence, Atrophy of the spinal cord, Abnormal spinal cord morphology, Adr... |
ORPHA:139399 |
| Multiple Endocrine Neoplasia Type 4 |
|
Hypercalcemia, Fasting hyperinsulinemia, Increased circulating cortisol level, Hyperinsulinemic h... |
ORPHA:276152 |
| Relapsing Polychondritis |
|
Abnormal endocardium morphology, Renal insufficiency, Pericarditis, Proteinuria, Myocarditis, Lar... |
ORPHA:728 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Hypospadias, Narrow palate, Anteriorly placed anus, High palate, Palmoplantar cu... |
OMIM:123790 |
| Prader-Willi Syndrome |
|
Syndactyly, Acromicria, Small hand, Narrow palm, Genu valgum, Short foot, Micropenis, Hip dysplas... |
OMIM:176270 |
| Autosomal Dominant Robinow Syndrome |
|
Hypoplasia of penis, Micromelia, Epispadias, High, narrow palate, Coxa vara, Pectus carinatum, Sh... |
ORPHA:3107 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Hypospadias, Supernumerary nipple, Tapered finger, Short thumb, Cryptorchidism, Chordee, Clinodac... |
ORPHA:477993 |
| Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Multiple pulmonary cysts, Microretrognathia, Ventricular septal defect, Splenom... |
OMIM:619418 |
| Neu-Laxova Syndrome 2 |
|
Finger syndactyly, Toe syndactyly, Rocker bottom foot, Cleft palate, High palate |
OMIM:616038 |
| Neurofibromatosis-Noonan Syndrome |
|
Pectus excavatum of inferior sternum, Short neck, Pectus excavatum, Secundum atrial septal defect... |
OMIM:601321 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Hypospadias, 2-3 toe cutaneous syndactyly, Velopharyngeal insufficiency, Cleft palate... |
OMIM:129400 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Hypoplasia of penis, Camptodactyly of finger, High palate, Abnormal metacarpal... |
ORPHA:284160 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Anal stenosis, Hypospadias, Anal atresia |
OMIM:180500 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Left ventricular hypertrophy, Recurrent gastroenteritis, Anal fissure, Perianal dermatitis |
ORPHA:294023 |
| Leigh Syndrome |
|
Multiple joint contractures, Ventricular septal defect, Gastrointestinal dysmotility, Neutropenia... |
ORPHA:506 |
| Fraser Syndrome 3 |
|
Hypoplasia of penis, Short toe, Cutaneous syndactyly, Ureteral agenesis, Tracheal atresia |
OMIM:617667 |
| Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Hemivertebrae, Femoral bowing, Anteriorly placed anus, Micropenis, Arachnodactyly, Hypospadias, B... |
OMIM:201750 |
| Eec Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Hypospadias, Proximal placeme... |
ORPHA:1896 |
| Superficial Siderosis |
|
Back pain, Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal cord morphology, ... |
ORPHA:247245 |
| Distal Deletion 3P |
|
Atrioventricular canal defect |
ORPHA:1620 |
| Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Impaired oxidativ... |
OMIM:306400 |
| Histiocytoid Cardiomyopathy |
|
Ventricular septal defect, Cardiomegaly, Renal cyst, Stroke-like episode, Cleft palate, Polycysti... |
ORPHA:137675 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis |
ORPHA:2717 |
| Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Atrial septal defect, Right atrial enlargement |
OMIM:615219 |
| Scalp-Ear-Nipple Syndrome |
|
Finger syndactyly, Renal insufficiency, Unilateral renal agenesis, Cardiac myxoma, 3-4 finger cut... |
OMIM:181270 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Impaired oxidative burst, Gran... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Impaired oxidative burst, Gran... |
OMIM:233710 |
| Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Lymphadenitis, Splenomegaly, Recurrent pneumonia, Lymphadenopathy, Impaired oxidative burst, Gran... |
OMIM:233690 |
| Multiple Endocrine Neoplasia Type 1 |
|
Hypercalcemia, Anorexia, Osteolysis, Reduced bone mineral density, Weight loss, Increased circula... |
ORPHA:652 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar cutis gyrata, Cleft palate, Narrow palate, Anteriorly placed anus, Palmoplantar kera... |
ORPHA:1555 |
| Friedreich Ataxia 2 |
|
Abnormality of the dorsal column of the spinal cord, Concentric hypertrophic cardiomyopathy, Hamm... |
OMIM:601992 |
| Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... |
ORPHA:454840 |
| Branchioskeletogenital Syndrome |
|
Amelia involving the lower limbs, Ureteral stenosis, Thoracolumbar kyphoscoliosis, Unilateral cle... |
ORPHA:1299 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Congenital hip dislocation, Short thumb, Small hand, Short foot, Anteriorly placed anus, High pal... |
OMIM:268400 |
| Limb-Mammary Syndrome |
|
Syndactyly, Toe syndactyly, Submucous cleft soft palate, Cleft hard palate, 3-4 finger cutaneous ... |
ORPHA:69085 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Renal hypoplasia, Short foot, Short palm, Clinodactyly of the ... |
ORPHA:264200 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Rectal abscess, B lymphocy... |
OMIM:601495 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absence of Stensen duct, Aplasia of the parotid gland, Abse... |
OMIM:149730 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Hypospadias, Preaxial hand po... |
ORPHA:2211 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Abnormalit... |
OMIM:607932 |
| Semilobar Holoprosencephaly |
|
Median cleft lip, Short stature, Hydrocephalus, Cleft palate, Abnormal heart rate variability, Ne... |
ORPHA:220386 |
| Alobar Holoprosencephaly |
|
Median cleft lip, Short stature, Hydrocephalus, Cleft palate, Abnormal heart rate variability, Ne... |
ORPHA:93925 |
| Midline Interhemispheric Variant Of Holoprosencephaly |
|
Median cleft lip, Short stature, Hydrocephalus, Cleft palate, Abnormal heart rate variability, Ne... |
ORPHA:93926 |
| Lobar Holoprosencephaly |
|
Median cleft lip, Short stature, Hydrocephalus, Cleft palate, Abnormal heart rate variability, Ne... |
ORPHA:93924 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Finger syndactyly, Down-sloping shoulders, Short foot, High palate, Clinodactyly of the 5th finge... |
ORPHA:1974 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Ventricular septal defect |
OMIM:234050 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Abnormal bronchus morphology, Dysuria, Pneumonia, Oral-pharyngeal dysp... |
ORPHA:95455 |
| Monosomy 22 |
|
Finger syndactyly, Single transverse palmar crease, Clubbing, High palate, Clinodactyly of the 5t... |
ORPHA:96123 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Patent ductus arteriosus, Dysphagia, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Neut... |
OMIM:617248 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Bloom Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Hand polydactyly, Bronchiectasis |
OMIM:210900 |
| Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| White-Kernohan Syndrome |
|
Hydroureter, Horseshoe kidney, Anteriorly placed anus, Hip dysplasia, Rectovaginal fistula, Gastr... |
OMIM:619426 |
| Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Postaxial hand polydactyly, Narrow palate, Cleft palate, High palate |
OMIM:605627 |
| Incontinentia Pigmenti |
|
Finger syndactyly, Camptodactyly of finger, Abnormal hand morphology, Absent hand, Deviation of f... |
ORPHA:464 |
| Congenital Disorder Of Glycosylation, Type Iim |
|
Vesicovaginal fistula, High palate, Gastroesophageal reflux, Atrial septal defect, Ureteropelvic ... |
OMIM:300896 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Myelopathy, Abnormal spinal cord morphology, Hamstring contractures, Ankle clonus, Dysphagia |
ORPHA:139396 |
| Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Syndactyly, High palate, Unilateral brachydactyly, Aplasia/Hypoplasia involving the shoulder musc... |
ORPHA:1521 |
| Amoebiasis Due To Free-Living Amoebae |
|
Myocardial necrosis, Pneumonia, Respiratory tract infection, Abnormal spinal cord morphology, Inc... |
ORPHA:68 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Flexion contracture, Ventricular septal defect |
OMIM:619306 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Ketonuria, Bicuspid aortic valve, Hypospadias, Mitral atresia, Aortic valve atresia, Coarctation ... |
OMIM:220111 |
| Adult Syndrome |
|
Finger syndactyly, Toe syndactyly, Split foot |
ORPHA:978 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Panniculitis, Chylothorax, Leukemia, Cellulitis, Atrial septal defect, Pleural effusion |
ORPHA:2526 |
| Multiple Endocrine Neoplasia Type 2 |
|
Hypercalcemia |
ORPHA:653 |
| Anemia, Congenital Dyserythropoietic, Type Ia |
|
Syndactyly |
OMIM:224120 |
| Acute Disseminated Encephalomyelitis |
|
Abnormal spinal cord morphology, Myelitis |
ORPHA:83597 |
| Sarcoidosis |
|
Hepatomegaly, Bone cyst, Hypercalcemia, Weight loss |
ORPHA:797 |
| Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Metatarsus valgus, Long penis, Hip dislocation, A... |
ORPHA:744 |
| Hartsfield Syndrome |
|
Syndactyly, Hypospadias, Cleft palate, Ectrodactyly, Micropenis |
OMIM:615465 |
| Monosomy 13Q14 |
|
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cl... |
ORPHA:1587 |
| Leukocyte Adhesion Deficiency, Type I |
|
Leukocytosis, Rectal abscess |
OMIM:116920 |
| Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Patent foramen ovale |
OMIM:225250 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Anteriorly placed anus, Gastroesophageal reflux, Hypospadias, Renal cyst |
ORPHA:495875 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Abnormal digit morphology, Median cleft lip and palate |
ORPHA:95494 |
