Spondyloarthropathy, Susceptibility To, 2 |
|
Abnormal joint morphology |
OMIM:183840 |
Coracoclavicular Joint, Anomalous |
|
Abnormal joint morphology |
OMIM:121350 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Short neck, Micrognathia, Gener... |
ORPHA:508498 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Sh... |
ORPHA:1120 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Polyhydramnios, Abnormal l... |
OMIM:265380 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Renal hypoplasia/aplas... |
ORPHA:1166 |
Heterotaxy, Visceral, 1, X-Linked |
|
Congenital hip dislocation, Polyhydramnios, Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary ... |
OMIM:306955 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Congenital hip dislocation, Micr... |
ORPHA:508488 |
Emanuel Syndrome |
|
Multiple joint contractures, Congenital hip dislocation, Dental crowding, Congenital diaphragmati... |
ORPHA:96170 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Short neck, Abnormal fo... |
ORPHA:2311 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Micrognathia, Agenesis of pulmonary vessels, Atrial septal defec... |
OMIM:601186 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Polyhydramnios, Short neck, Micrognathia, Asplenia, Micromelia, Hemivertebra... |
ORPHA:99776 |
Emanuel Syndrome |
|
Congenital hip dislocation, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High ... |
OMIM:609029 |
3C Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Short neck, Micrognathia, High, narrow palate, Hemiverte... |
ORPHA:7 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Internally rotated shoulders, Dec... |
OMIM:619503 |
Verheij Syndrome |
|
Branchial cyst, Short neck, Hemivertebrae, Renal cyst, Coloboma, Joint laxity, Vertebral fusion, ... |
OMIM:615583 |
Ritscher-Schinzel Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Micrognathia, Hemivert... |
OMIM:220210 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contrac... |
ORPHA:536471 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Paroxysmal atrial fibrillation, First degree atrioventricular block... |
ORPHA:392 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Maternal diabetes, Micrognathia, Limited elbow movement, Hemivertebrae, ... |
OMIM:134780 |
Fg Syndrome Type 1 |
|
Dental crowding, Micrognathia, Generalized joint laxity, Abnormal sternum morphology, Fused teeth... |
ORPHA:93932 |
Fanconi Anemia |
|
Micrognathia, Reduced bone mineral density, Leukopenia, Abnormality of the liver, High palate, At... |
ORPHA:84 |
Williams Syndrome |
|
Osteopenia, Periorbital edema, Abnormal form of the vertebral bodies, Nephrocalcinosis, Microdont... |
ORPHA:904 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Renal agenesis, Ventricular septal defect, Short neck, Renal hypoplasia/aplasia, Micrognathia, Hi... |
ORPHA:2516 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Gastroesoph... |
ORPHA:1606 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Polyhydramnios, Renal cyst, Gastroesophageal reflux, Micropenis, Pelvic kidney, Abnormality of th... |
ORPHA:464311 |
22Q11.2 Deletion Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Anorectal anomaly, Abnormal lung lobation, Abnormal aor... |
ORPHA:567 |
Prune Belly Syndrome |
|
Congenital hip dislocation, Vertebral segmentation defect, Vesicoureteral reflux, Atrial septal d... |
ORPHA:2970 |
Fryns Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Short neck, Micrognathia, Polyhydram... |
ORPHA:2059 |
Lateral Meningocele Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Short neck, Micrognathia, Coarse h... |
OMIM:130720 |
Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Ectopic kidney, Gonadotropin deficiency, Hemivertebrae, Abnormal lung lobatio... |
ORPHA:672 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Osteopenia, Bicuspid aortic valve, Premature thelarche, Osteolysis involving bones o... |
ORPHA:371428 |
Craniofaciofrontodigital Syndrome |
|
Osteopenia, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Edema, Po... |
ORPHA:363705 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Decreased response to growth hormone stimulation test, P... |
OMIM:213980 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Polyhydramnios, Abnormal left ventricular function, Leukopenia, Vesicoureteral reflux, Pulmonary ... |
OMIM:301056 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Multiple pterygia, Micrognathia, Orofacial cleft, V... |
ORPHA:2990 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Multiple joint contractures, Anterior pituitary hypoplasia, Renal cyst, Gastroesophageal reflux, ... |
ORPHA:464306 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Bicuspid aortic valve, Ectopic kidney, Synophrys, Abnormal lung lobation, Orofacial cleft, High p... |
OMIM:607872 |
Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... |
OMIM:146510 |
Variant Abeta2M Amyloidosis |
|
Amyloidosis of peripheral nerves, Abnormal vascular morphology, Intestinal perforation, Cardiac a... |
ORPHA:314652 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Short neck, Renal hypop... |
ORPHA:2345 |
Holoprosencephaly |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Abnormality of the spleen, Deep... |
ORPHA:2162 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Short neck, Micrognathia, Asplenia, Lobulated tongue... |
OMIM:249000 |
Stankiewicz-Isidor Syndrome |
|
Ureteral duplication, Sacral dimple, Hypospadias, Ventricular septal defect, Micrognathia, Absent... |
OMIM:617516 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Osteopenia, Bicuspid aortic valve, Gastrointestinal dysmotility, Downturned corners of mouth, Col... |
ORPHA:453499 |
Kleefstra Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Sy... |
ORPHA:261494 |
Recombinant Chromosome 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Atrial septal defect, Cryptorchidism, Patent ductus ar... |
OMIM:179613 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Maternal diabetes, Cardiomegaly, Abnormal aor... |
ORPHA:860 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Joint laxity, Atrial septal defect, Limited elbow extension and supination, Thin upper lip vermil... |
ORPHA:401935 |
Williams-Beuren Syndrome |
|
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Early ... |
OMIM:194050 |
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome |
|
Bicuspid aortic valve, Synophrys, Low anterior hairline, Downturned corners of mouth, Coloboma, G... |
ORPHA:329224 |
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 |
Scimitar Syndrome |
|
Heart block, Abnormal lung morphology, Pulmonary artery hypoplasia, Hypoplasia of the diaphragm, ... |
ORPHA:185 |
Autosomal Recessive Robinow Syndrome |
|
Hypoplasia of penis, Tented upper lip vermilion, Short neck, Micrognathia, Orofacial cleft, Pectu... |
ORPHA:1507 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Asplenia, Atrial septal defect, Atrioventricular canal defect, Abnormal ve... |
ORPHA:210122 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Mild postnatal growth retardation, Ectopic kidney, Lymphedema, Periorbital edema, Rectal prolapse... |
OMIM:235510 |
Pseudotrisomy 13 Syndrome |
|
Adrenal hypoplasia, Hemivertebrae, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis ... |
OMIM:264480 |
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Congenital hip dislocation, Adrenal hypoplasia, Micrognathia, Absent middle phalanx of 3rd finger... |
OMIM:308050 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, High palate, Atria... |
OMIM:617602 |
Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Short stature, Abnormality of the kidney, Polyhydramnios, Micromelia, Kyphosis, Pa... |
ORPHA:93274 |
Chondrocalcinosis 2 |
|
Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis |
OMIM:118600 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Unilateral renal agenesis, Anomalous orig... |
OMIM:618845 |
Opitz Gbbb Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Vertebral segmentation defect, High palate, Vesico... |
ORPHA:2745 |
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations |
|
Joint laxity, Hypoplasia of the bladder, Atrial septal defect, Hydroureter, Bicuspid aortic valve... |
OMIM:300707 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Hypoplasia of the maxilla, Gastroesophageal reflux, Atrial septal defect, Hypo... |
ORPHA:79345 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Osteopenia, Dental crowding, Synophrys, High palate, Spina bifida occulta, Short 5th metacarpal, ... |
OMIM:617877 |
Meacham Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Scimitar anomaly, Diaphragmatic eventration, Neonata... |
OMIM:608978 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Osteopenia, Anterior pituitary hypoplasia, Edema, Polyhydramnios, Aqueductal stenosis, Secundum a... |
OMIM:619534 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Micrognathia, Lymphedema, Intracranial h... |
ORPHA:109 |
Chops Syndrome |
|
High, narrow palate, Synophrys, Downturned corners of mouth, Coarse hair, Gastroesophageal reflux... |
OMIM:616368 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Mesenteric cyst, Parachute mitral valve, Synophrys, Gastroesophageal reflux, Short philtrum, Atri... |
OMIM:618316 |
Treacher-Collins Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis... |
ORPHA:861 |
Koolen-De Vries Syndrome |
|
Bicuspid aortic valve, High palate, Widely spaced teeth, Atrial septal defect, Vesicoureteral ref... |
OMIM:610443 |
Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Premature thelarche, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the m... |
OMIM:180849 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral artery hypoplasia, Short neck, Hemivertebrae, Vertebral segmentation defect, Spina bifi... |
OMIM:613686 |
Lowry-Maclean Syndrome |
|
Osteopenia, Congenital diaphragmatic hernia, Micrognathia, Bilateral cryptorchidism, Hypoplasia o... |
ORPHA:2409 |
Cat Eye Syndrome |
|
Micrognathia, Biliary atresia, Chorioretinal coloboma, Atrial septal defect, Vesicoureteral reflu... |
OMIM:115470 |
Fanconi Anemia, Complementation Group F |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Leukopenia, Microphallus, ... |
OMIM:603467 |
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom |
|
Joint laxity, Diabetes mellitus, Hypospadias, Bicuspid aortic valve, Ventricular septal defect, H... |
ORPHA:500159 |
Adams-Oliver Syndrome |
|
Encephalocele, Gastrointestinal hemorrhage, Alopecia, Abnormal pulmonary valve morphology, Portal... |
ORPHA:974 |
15Q24 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Coloboma,... |
ORPHA:94065 |
Short-Rib Thoracic Dysplasia 12 |
|
Edema, Short neck, Polyhydramnios, Lobulated tongue, Thoracic dysplasia, Holoprosencephaly, Narro... |
OMIM:269860 |
Primary Ciliary Dyskinesia |
|
Atrial situs ambiguous, Asplenia, Abnormal atrial arrangement, Respiratory tract infection, Atele... |
ORPHA:244 |
Familial Multiple Nevi Flammei |
|
Edema, Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformat... |
ORPHA:624 |
Hardikar Syndrome |
|
Intrahepatic bile duct cysts, Cholangitis, Hepatic fibrosis, Vesicoureteral reflux, Atrial septal... |
OMIM:301068 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Polyhydramnios, Abnormal lung lobation, Or... |
ORPHA:2166 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Bicuspid aortic valve, Congenital diaphragmatic hernia, Short neck, Micrognathia, Car... |
OMIM:245600 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Polyhydramnios, Micrognathia, Secundum atr... |
OMIM:214800 |
Axial Mesodermal Dysplasia Spectrum |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Abnormality of the spleen, Anorectal a... |
ORPHA:1834 |
Genitopalatocardiac Syndrome |
|
Hypospadias, Ventricular septal defect, Micrognathia, Cleft upper lip, Renal cyst, Cleft palate, ... |
OMIM:231060 |
Skraban-Deardorff Syndrome |
|
Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid... |
OMIM:617616 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short philtrum, Microphallus, Vesicour... |
OMIM:618454 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Polyhydr... |
OMIM:312870 |
8P23.1 Microdeletion Syndrome |
|
Hypospadias, Short stature, Congenital diaphragmatic hernia, Short neck, Micrognathia, Cryptorchi... |
ORPHA:251071 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Delayed eruption of teeth, Short stature, Dextrocardia, Camptodactyly of finger, Renal hypoplasia... |
ORPHA:2863 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Osteopenia, Intestinal pseudo-obstruction, Bicuspid aortic valve, High, narrow palate, Gastrointe... |
ORPHA:352665 |
Triploidy |
|
Hypoplasia of penis, Polyhydramnios, Short neck, Micrognathia, Holoprosencephaly, Narrow chest, D... |
ORPHA:3376 |
Encephalocraniocutaneous Lipomatosis |
|
Peripheral pulmonary artery stenosis, Alopecia, Ventricular septal defect, Subcutaneous lipoma, C... |
OMIM:613001 |
Intellectual Developmental Disorder, Autosomal Dominant 48 |
|
Dilated fourth ventricle, Joint laxity, Hypospadias, Bicuspid aortic valve, Ventricular septal de... |
OMIM:617751 |
Contractural Arachnodactyly, Congenital |
|
Osteopenia, Bicuspid aortic valve, Short neck, Micrognathia, Pectus carinatum, Knee flexion contr... |
OMIM:121050 |
Hadziselimovic Syndrome |
|
Ventricular hypertrophy, Atrial septal defect, Ventricular septal defect, Short stature, Delayed ... |
OMIM:612946 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Polyhydramnios, Renal cyst, Orofacial cleft,... |
ORPHA:1692 |
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome |
|
Branchial cyst, Thoracic scoliosis, Polyhydramnios, Micrognathia, Downturned corners of mouth, Ga... |
OMIM:620186 |
Iniencephaly |
|
Congenital diaphragmatic hernia, Polyhydramnios, Orofacial cleft, Holoprosencephaly, Dandy-Walker... |
ORPHA:63259 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Edema, Short neck, Cryptorchidism, Patent ductus arteriosus, Thrombocytopenia, Olig... |
OMIM:608104 |
Trisomy 1Q |
|
Congenital diaphragmatic hernia, Polyhydramnios, Hydrops fetalis, Agenesis of corpus callosum, Mi... |
ORPHA:261344 |
Loeys-Dietz Syndrome 4 |
|
Bicuspid aortic valve, High, narrow palate, Abnormal sternum morphology, High palate, Broad uvula... |
OMIM:614816 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Micrognathia, Partial agenesis of the corpus callosum, Flexion contractur... |
OMIM:210710 |
Smith-Lemli-Opitz Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Polyhydramnios, A... |
ORPHA:818 |
Basal Cell Nevus Syndrome 1 |
|
Mandibular prognathia, Hemivertebrae, Cardiac fibroma, Abnormal sternum morphology, Iris coloboma... |
OMIM:109400 |
Zttk Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Flexion contracture, Hemivertebrae, Downturn... |
OMIM:617140 |
Desmosterolosis |
|
Micromelia, Micrognathia, Agenesis of corpus callosum, Bifid uvula, Increased bone mineral densit... |
ORPHA:35107 |
Robinow Syndrome |
|
Dental crowding, Micrognathia, Hemivertebrae, Orofacial cleft, Atrial septal defect, Webbed penis... |
ORPHA:97360 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn... |
ORPHA:363444 |
Charge Syndrome |
|
Polyhydramnios, Aqueductal stenosis, Hemivertebrae, Gastroesophageal reflux, Holoprosencephaly, C... |
ORPHA:138 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Hemivertebrae, Hepatoblastoma, Dilated third ventricle, ... |
OMIM:304050 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Smooth philtrum, Inguinal hernia, Supernumerary nipple, Accelerated skeletal maturation, Highly a... |
OMIM:618653 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Kabuki Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Hemivertebrae, Abnormal form of the vertebr... |
ORPHA:2322 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Bone pain, Low anterior ... |
ORPHA:955 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Tented upper lip vermilion, Lymphedema, Synophrys, Flexion contracture, Downturned corners of mou... |
ORPHA:487796 |
Down Syndrome |
|
Short palm, Atrial septal defect, Atrioventricular canal defect, Patent foramen ovale, Hypothyroi... |
OMIM:190685 |
Mowat-Wilson Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cl... |
ORPHA:2152 |
Cardioacrofacial Dysplasia 2 |
|
Mandibular prognathia, Tented upper lip vermilion, Accessory oral frenulum, Conical tooth, Common... |
OMIM:619143 |
7Q11.23 Microduplication Syndrome |
|
Short lingual frenulum, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivertebrae,... |
ORPHA:96121 |
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 |
Right Atrial Isomerism |
|
Atrial septal defect, Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Aortopu... |
OMIM:208530 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Smooth philtrum, Thin upper lip vermilion... |
ORPHA:477817 |
Intellectual Disability-Strabismus Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Short nec... |
ORPHA:363528 |
Klippel-Trénaunay Syndrome |
|
Gastrointestinal hemorrhage, Hepatomegaly, Prolonged bleeding time, Peripheral arteriovenous fist... |
ORPHA:90308 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cl... |
ORPHA:261537 |
Vacterl/Vater Association |
|
Occipital encephalocele, Hypoplasia of penis, Abnormal intervertebral disk morphology, Congenital... |
ORPHA:887 |
Sotos Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, High, narrow palate, Partial agenesis of ... |
OMIM:117550 |
Femoral-Facial Syndrome |
|
Maternal diabetes, Micrognathia, Orofacial cleft, Vertebral segmentation defect, Aplasia/Hypoplas... |
ORPHA:1988 |
Ogden Syndrome |
|
Congenital hip dislocation, Bicuspid aortic valve, Maternal diabetes, Short neck, Micrognathia, M... |
OMIM:300855 |
Cantu Syndrome |
|
Bicuspid aortic valve, Short neck, Cardiomegaly, Lymphedema, Narrow chest, Thick upper lip vermil... |
OMIM:239850 |
Baraitser-Winter Syndrome 1 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Short stature, Highly arched eyebrow, Short neck... |
OMIM:243310 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Glossoptosis, Vertebral segmentation de... |
OMIM:611209 |
Mucopolysaccharidosis Type 7 |
|
Recurrent respiratory infections, Anterior beaking of lower thoracic vertebrae, Inguinal hernia, ... |
ORPHA:584 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Mandibular prognathia, Bicuspid aortic valve, Urinary incontinence, Dental crowding, Asplenia, Cl... |
ORPHA:261552 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrial septal defect, Intestinal malrotation, Dextrocardia, Mitral atresia, Situs inversus totali... |
OMIM:616749 |
Aicardi Syndrome |
|
Partial agenesis of the corpus callosum, Multiple lipomas, Gastroesophageal reflux, Short philtru... |
ORPHA:50 |
Microform Holoprosencephaly |
|
Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Short stature, Maternal diabetes... |
ORPHA:280200 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Atrial septal defect, Vesicoureteral reflux, Upper limb muscle hypoplasia, ... |
OMIM:607323 |
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Short stature, Urinary incontinence, Polyhydramnios, Micrognathia, Carious teeth, Pericardial eff... |
OMIM:620070 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Premature graying of hair, Short stature, ... |
OMIM:300845 |
Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect,... |
ORPHA:1908 |
Distal Deletion 10Q |
|
Micrognathia, Functional abnormality of the bladder, Short metatarsal, High palate, Atrial septal... |
ORPHA:96148 |
Peters Plus Syndrome |
|
Ureteral duplication, Polyhydramnios, Short neck, Micrognathia, Micromelia, Bicuspid pulmonary va... |
ORPHA:709 |
Fanconi Anemia, Complementation Group D2 |
|
Ectopic kidney, Reticulocytopenia, Aplasia of the 1st metacarpal, Neutropenia, Micropenis, Pelvic... |
OMIM:227646 |
Koolen-De Vries Syndrome |
|
Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Vertebral segmentation defect, ... |
ORPHA:96169 |
Alg12-Cdg |
|
Edema, Micrognathia, Polyhydramnios, Abnormal peripheral nervous system morphology, Gastroesophag... |
ORPHA:79324 |
Arterial Tortuosity Syndrome |
|
Carotid artery dissection, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Pe... |
OMIM:208050 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Short stature, Renal hypoplasia/aplasia, Primary ... |
ORPHA:1590 |
Distal 22Q11.2 Microdeletion Syndrome |
|
High, narrow palate, Short palm, Atrial septal defect, Branchial fistula, Short stature, Highly a... |
ORPHA:261330 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Kyphoscoliosis, Cutaneous angiolipomas, Congestive heart failure, Bone... |
ORPHA:53721 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Knee flexion contracture, Microphallus, Pelvic kidney, Agenesis of c... |
ORPHA:468631 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Polyhydramnios, Micrognathia, Partial agenesis of the corpus callosum, Craniofac... |
OMIM:300373 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Short stature, Congenital diaphragmatic hernia, Highl... |
OMIM:300887 |
Fontaine Progeroid Syndrome |
|
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, High, narrow palate, Hypoplasia of th... |
OMIM:612289 |
Sweeney-Cox Syndrome |
|
Polyhydramnios, Micrognathia, Bilateral cryptorchidism, Asplenia, Low anterior hairline, High pal... |
OMIM:617746 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Tented upper lip vermilion, Dental crowding, Short neck, High palate, Atrial septal defect, Paten... |
OMIM:612582 |
Smith-Lemli-Opitz Syndrome |
|
Dental crowding, Micromelia, Micrognathia, Partial agenesis of the corpus callosum, Gastrointesti... |
OMIM:270400 |
Heart Defects, Congenital, And Other Congenital Anomalies |
|
Ureteral duplication, Congenital diaphragmatic hernia, Biliary atresia, Atrial septal defect, Pan... |
OMIM:600001 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Gastroesophageal reflux, Hernia, Chorioretinal coloboma, Iris co... |
ORPHA:2092 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Thoracic aortic aneurysm, Intestinal malrotation, Ventricular septal defect, Dextrocardia, Asplen... |
OMIM:619657 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Ectopic kidney, Short neck, Micrognathia, High, narrow palate, S... |
OMIM:122470 |
Mosaic Variegated Aneuploidy Syndrome |
|
Polyhydramnios, Micrognathia, Abnormal lung lobation, Holoprosencephaly, Atrial septal defect, St... |
ORPHA:1052 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Short stature, Joint stiffness, Kyphosis, Optic atrophy, Abnorm... |
ORPHA:702 |
Heterotaxy, Visceral, 5, Autosomal |
|
Atrial reentry tachycardia, Ureteral duplication, Asplenia, Dextrotransposition of the great arte... |
OMIM:270100 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Hypoplasia of penis, Hypospadias, Ventricular septal defect, Cryptorchidism, Pa... |
ORPHA:77298 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, Hydroce... |
ORPHA:268249 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Decreased response to growth hormone ... |
ORPHA:226307 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Overriding aorta, Carious teeth, Abnormal aortic arch morphology, Downturn... |
ORPHA:1110 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi... |
ORPHA:99413 |
Mosaic Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi... |
ORPHA:99228 |
Monosomy X |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi... |
ORPHA:99226 |
Turner Syndrome |
|
Osteopenia, Bicuspid aortic valve, Myocardial infarction, Ectopic kidney, Short neck, Micrognathi... |
ORPHA:881 |
Double Outlet Right Ventricle |
|
Hypoparathyroidism, Tachycardia, Ventricular septal defect, Intestinal malrotation, Short stature... |
ORPHA:3426 |
Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Orofacial cleft, Abnormal sternum morphology, Atrial septal defe... |
ORPHA:1335 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Abnormal vertebral morphology, Dextrocardia, Polyhydramnios, Absent... |
OMIM:314390 |
Wolf-Hirschhorn Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Abnormal form of the vertebral bodies, Downturned ... |
ORPHA:280 |
Axial Spondylometaphyseal Dysplasia |
|
Osteopenia, Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Mild postnatal growth retard... |
ORPHA:168549 |
Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Omphalocele, Sacral dimple, Inguinal hernia, Thick upper lip vermilion... |
OMIM:247200 |
Monosomy 18Q |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Low anterior hair... |
ORPHA:1600 |
Chromosome 9P Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, ... |
OMIM:158170 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly, Descending thoracic aorta aneurysm, High, narrow palate, Abn... |
ORPHA:91387 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Tented upper lip vermilion, Short neck, Synophrys, Hypertrophy of the urinary bladder, High palat... |
ORPHA:280633 |
Zaki Syndrome |
|
Dilated fourth ventricle, Sparse scalp hair, Sacral dimple, Renal agenesis, Short stature, Congen... |
OMIM:619648 |
Hennekam Syndrome |
|
Mild postnatal growth retardation, Abnormal oral mucosa morphology, Ectopic kidney, Lymphedema, H... |
ORPHA:2136 |
Helsmoortel-Van Der Aa Syndrome |
|
Decreased response to growth hormone stimulation test, High, narrow palate, Enuresis nocturna, Pi... |
OMIM:615873 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Thin upper lip vermilion, Laterally extended eyebrow, Tented upper lip vermilion, Ventricular sep... |
OMIM:600987 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Patent ductus arteriosus, Frontal encephalocele,... |
ORPHA:261102 |
Acrocardiofacial Syndrome |
|
Joint dislocation, Hypoplasia of penis, Hyperthyroidism, Hypospadias, Mitral stenosis, Ventricula... |
ORPHA:2008 |
Meacham Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus t... |
ORPHA:3097 |
Cardiospondylocarpofacial Syndrome |
|
Congenital diaphragmatic hernia, Gastroesophageal reflux, Atrial septal defect, Vesicoureteral re... |
OMIM:157800 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa... |
OMIM:208540 |
Snijders Blok-Campeau Syndrome |
|
Joint laxity, Inguinal hernia, Taurodontia, High palate, Perimembranous ventricular septal defect... |
OMIM:618205 |
Microphthalmia, Syndromic 3 |
|
Anterior pituitary hypoplasia, Hemivertebrae, Coloboma, Micropenis, Agenesis of corpus callosum, ... |
OMIM:206900 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Joint dislocation, Osteopenia, Thoracic scoliosis, Decreased muscle mass, Widened atrophic scar, ... |
ORPHA:1900 |
Coffin-Siris Syndrome 3 |
|
High palate, Dandy-Walker malformation, Joint laxity, Short stature, Delayed skeletal maturation,... |
OMIM:614608 |
Diabetic Embryopathy |
|
Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Cryptorc... |
ORPHA:1926 |
Distal Deletion 15Q |
|
Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Generalized joint laxity, A... |
ORPHA:1596 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Multicystic kidney dysplasia, Short metacarpal, Short stature, Supernumerary n... |
ORPHA:1001 |
Classical Ehlers-Danlos Syndrome |
|
Osteopenia, Abnormality of the temporomandibular joint, Incisional hernia, Rectal prolapse, Osteo... |
ORPHA:287 |
Diamond-Blackfan Anemia 1 |
|
Short neck, Micrognathia, Reticulocytopenia, Hypoplastic coccygeal vertebrae, High palate, Narrow... |
OMIM:105650 |
White-Sutton Syndrome |
|
Mandibular prognathia, Congenital diaphragmatic hernia, Short neck, Micrognathia, Downturned corn... |
OMIM:616364 |
Classic Homocystinuria |
|
Dental crowding, Pulmonary embolism, Pectus carinatum, Intracranial hemorrhage, High palate, Hern... |
ORPHA:394 |
Distal Monosomy 7Q36 |
|
Hypoplasia of penis, Short stature, Micrognathia, Short neck, Cryptorchidism, Pectus excavatum, N... |
ORPHA:1636 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... |
ORPHA:2255 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Deep philtrum, Vertebral segmentatio... |
OMIM:612530 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Congenital hip dislocation, Bicuspid aortic valve, Micrognat... |
ORPHA:536545 |
Parkes Weber Syndrome |
|
Back pain, Cerebral arteriovenous malformation, Spinal arteriovenous malformation, Lower limb mus... |
ORPHA:90307 |
Cutis Marmorata Telangiectatica Congenita |
|
Multicystic kidney dysplasia, Purpura, Telangiectasia of the skin, Micrognathia, Patent ductus ar... |
ORPHA:1556 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Cranio... |
ORPHA:261197 |
Schuurs-Hoeijmakers Syndrome |
|
Thin upper lip vermilion, Bicuspid aortic valve, Highly arched eyebrow, Diastema, Cryptorchidism,... |
OMIM:615009 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Thyroid dysgenesis, Polyhydramnios, Micrognathia, Atrial septal defect, Atrioventricular canal de... |
ORPHA:3047 |
Even-Plus Syndrome |
|
Atrial septal defect, Recurrent urinary tract infections, Severe short stature, Highly arched eye... |
OMIM:616854 |
Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Micrognathia, Deep phil... |
OMIM:619720 |
Kallmann Syndrome-Heart Disease Syndrome |
|
Osteopenia, Short lingual frenulum, Bilateral cryptorchidism, Pulmonary artery hypoplasia, Microp... |
ORPHA:2326 |
Cerebrofaciothoracic Dysplasia |
|
Polyhydramnios, Short neck, Synophrys, Hemivertebrae, Vertebral segmentation defect, Coarse hair,... |
ORPHA:1394 |
Oculoectodermal Syndrome |
|
Giant cell granuloma of mandible, Transient ischemic attack, Supernumerary nipple, Short neck, Ly... |
OMIM:600268 |
Distal Triplication 15Q |
|
Micrognathia, Flexion contracture, Abnormal sternum morphology, High palate, Hernia, Atrial septa... |
ORPHA:314588 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Prominent metopic ridge, Short stature, Highly arched ey... |
OMIM:613792 |
Coffin-Siris Syndrome 1 |
|
Dry hair, Congenital diaphragmatic hernia, Ectopic kidney, Conical tooth, Partial agenesis of the... |
OMIM:135900 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed anus, High palat... |
OMIM:619148 |
Neurooculorenal Syndrome |
|
Decreased circulating cortisol level, Ectopic posterior pituitary, Micrognathia, Aqueductal steno... |
OMIM:620305 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Micrognathia, Flexion c... |
OMIM:265000 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Bicuspid aortic valve, Limited elbow movement, Micrognathia, Short neck, Synophrys, Low anterior ... |
OMIM:610759 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Reduced bo... |
ORPHA:137608 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, ... |
OMIM:603387 |
Aortic Aneurysm, Familial Thoracic 12 |
|
Aortic regurgitation, Spontaneous pneumothorax, Bicuspid aortic valve, Pectus excavatum, Ascendin... |
OMIM:619825 |
Feingold Syndrome 1 |
|
Polyhydramnios, Micrognathia, Asplenia, High palate, Accessory spleen, Esophageal atresia, Patent... |
OMIM:164280 |
Renpenning Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, High, narrow palate, Short philtrum, Iris colobom... |
ORPHA:3242 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Osteopenia, Adrenal hypoplasia, Micrognathia, Morgagni diaphragmatic hernia, Periorbital edema, R... |
OMIM:613177 |
Kabuki Syndrome 1 |
|
Joint dislocation, Congenital hip dislocation, Premature thelarche, Micrognathia, High palate, At... |
OMIM:147920 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Renal insufficiency, Ventricular septal defect, Partial agenesis of the corpus callosum, Partial ... |
OMIM:617478 |
Fryns Syndrome |
|
Ureteral duplication, Ectopic pancreatic tissue, Tented upper lip vermilion, Polyhydramnios, Shor... |
OMIM:229850 |
Sandestig-Stefanova Syndrome |
|
Prominent metopic ridge, Laterally extended eyebrow, Highly arched eyebrow, Short neck, Sparse me... |
OMIM:618804 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Hypoplastic right heart, Ventricular septal defect, Unilateral renal agenesis, Micrognathia, High... |
OMIM:618142 |
Trisomy 13 |
|
High, narrow palate, Abnormal lung lobation, Hydrops fetalis, Narrow chest, Hernia, Atrial septal... |
ORPHA:3378 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Skeletal muscle atrophy, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, O... |
OMIM:253800 |
Pseudoaminopterin Syndrome |
|
Limited elbow movement, Micrognathia, Asplenia, Orofacial cleft, High palate, Short philtrum, Pat... |
ORPHA:221120 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Dental crowding, Abnormal curvature of the vertebral column, Coloboma, Gas... |
ORPHA:353281 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Stiff neck, Urinary incontinence, Myelopathy, ... |
ORPHA:268882 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Synophrys, Hemivertebrae, Pectus carinatum, Gastroesophageal reflux, Short stature, Highly arched... |
OMIM:614701 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short neck, Micrognathia, Short metatarsal, Patellar hypoplasia, Knee flexion contracture, Hand m... |
OMIM:609945 |
Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Short stature, Abnormal thorax morphology, Small hand, Abnormal heart m... |
ORPHA:1445 |
Jacobsen Syndrome |
|
Short neck, Micrognathia, Flexion contracture, Holoprosencephaly, Chorioretinal coloboma, Atrial ... |
OMIM:147791 |
Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:610168 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Ectopic kidney, Micrognathia, Renal cyst, Anteriorly ... |
OMIM:117650 |
Trisomy 18 |
|
Congenital diaphragmatic hernia, Holoprosencephaly, Hernia, Atrial septal defect, Iris coloboma, ... |
ORPHA:3380 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Abdominal situs inversus,... |
OMIM:614779 |
Carpenter Syndrome 1 |
|
Short neck, Micrognathia, Hypoplasia of the maxilla, High palate, Atrial septal defect, Spina bif... |
OMIM:201000 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Wolff-Parkinson-White syndrome, Broad eyebrow, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:619343 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Unilateral lung agenesis, Hypoplasia of the maxilla, Gastrointestinal dysmotility, Hemivertebrae,... |
ORPHA:500150 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Renal agenesis, Short stature, Unilateral renal agenesis, Pectus excavatum, Esophageal atresia, M... |
OMIM:619227 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Telangiectasia of the skin, Hydrocephalus, Optic atrophy, Wide mouth, Joint hyperflexibility, Cer... |
ORPHA:60040 |
Microgastria-Limb Reduction Defect Syndrome |
|
Congenital muscular torticollis, Abnormality of the spleen, Abnormal lung lobation, Gastroesophag... |
ORPHA:2538 |
Gm1-Gangliosidosis, Type I |
|
Thickened ribs, Short neck, Vacuolated lymphocytes, Hydrops fetalis, Hypoplastic vertebral bodies... |
OMIM:230500 |
15Q11.2 Microdeletion Syndrome |
|
Dilated fourth ventricle, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphol... |
ORPHA:261183 |
Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Micrognathia, Postnatal growth retardation, Patent ductus... |
ORPHA:2306 |
Microphthalmia, Syndromic 12 |
|
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,... |
OMIM:615524 |
Digeorge Syndrome |
|
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... |
OMIM:188400 |
Megabladder, Congenital |
|
Multiple glomerular cysts, Bicuspid aortic valve, Ventricular septal defect, Left ventricular non... |
OMIM:618719 |
Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Osteoarthritis, Knee osteoarthritis, Pectus ca... |
OMIM:613795 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Dental crowding, Polyhydramnios, Micrognathia, Abnormal curvature of the v... |
ORPHA:353277 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Congenital diaphragmatic hernia, Microgn... |
OMIM:154400 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta, Short 5th metaca... |
ORPHA:228190 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Osteopenia, Thoracic scoliosis, Short neck, Micrognathia, Osteoarthritis, Generalized joint laxit... |
OMIM:618000 |
Cardiac-Urogenital Syndrome |
|
Congenital diaphragmatic hernia, Patent urachus, Atrial septal defect, Scimitar anomaly, Micropen... |
OMIM:618280 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Short ne... |
ORPHA:1780 |
Cooper-Jabs Syndrome |
|
Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Missing ribs, Camptoda... |
ORPHA:1488 |
Chromosome 15Q25 Deletion Syndrome |
|
Inguinal hernia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Short statu... |
OMIM:614294 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Mandibular prognathia, Absent frontal sinuses, Hemivertebrae, Widely-spaced maxillary central inc... |
OMIM:301040 |
Okamoto Syndrome |
|
Facial hypertrichosis, Tented upper lip vermilion, Urinary incontinence, Primum atrial septal def... |
ORPHA:2729 |
Distal Deletion 12Q |
|
Ectopic kidney, Short neck, Micrognathia, High, narrow palate, Biliary atresia, Vesicoureteral re... |
ORPHA:96149 |
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 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Short metatarsal, High... |
ORPHA:1772 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Abnormality of the spleen, Pulmona... |
ORPHA:991 |
Rabson-Mendenhall Syndrome |
|
Mandibular prognathia, Dental crowding, Fasting hyperinsulinemia, Low anterior hairline, Nephroca... |
ORPHA:769 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Dental crowding, Cardiomegaly, High, narrow palate, Pineal cyst, Gastroesophageal reflux, Short p... |
OMIM:300967 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Edema of ... |
OMIM:274000 |
Simpson-Golabi-Behmel Syndrome |
|
Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital hip dislocation, Bun... |
ORPHA:373 |
Yuan-Harel-Lupski Syndrome |
|
Joint laxity, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Decreas... |
OMIM:616652 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Thin upper lip vermilion, Short stature, Highly arched eyebrow, Cleft palate, Malar flattening, T... |
OMIM:611867 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Septo-optic dysplasia, Short fourth metatarsa... |
OMIM:619841 |
Al Amyloidosis |
|
Howell-Jolly bodies, Xerostomia, Abnormality of the liver, Abnormal salivary gland morphology, He... |
ORPHA:85443 |
Lessel-Kreienkamp Syndrome |
|
Thin upper lip vermilion, Wide cranial sutures, Bicuspid aortic valve, Patent ductus arteriosus, ... |
OMIM:619149 |
Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Patent ductus arteriosus, Abnormal thorax morphology, Anomalous pulm... |
ORPHA:2184 |
Mirage Syndrome |
|
Adrenal hypoplasia, Intracranial hemorrhage, Leukopenia, Gastroesophageal reflux, Microphallus, A... |
OMIM:617053 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Sacral dimple, Dilation of Virchow-Robin spaces, Inguinal hernia, Alopecia, Polyh... |
ORPHA:544488 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Synophrys, Low anterior hairline, Downturned co... |
OMIM:301044 |
Septopreoptic Holoprosencephaly |
|
Precocious puberty, Abnormal rib morphology, Coarctation of aorta, Anteriorly placed anus, Dyspha... |
ORPHA:280195 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... |
OMIM:225500 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Sacral dimple, Bicuspid aortic valve, Short stature, Hemivertebrae, Hirsutism, Horseshoe kidney, ... |
OMIM:619318 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
High, narrow palate, Anteriorly placed anus, Gastroesophageal reflux, Atrial septal defect, Paten... |
OMIM:618494 |
Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Chronic gastritis, Polyhydramnios, Micrognathia,... |
OMIM:619472 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Hydranencephaly, Truncus arte... |
OMIM:601355 |
17Q24.2 Microdeletion Syndrome |
|
Prolonged QT interval, Otosclerosis, Thin upper lip vermilion, Decreased response to growth hormo... |
ORPHA:529962 |
Poland Syndrome |
|
Unilateral absence of pectoralis major muscle, Unilateral oligodactyly, Dextrocardia, Unilateral ... |
OMIM:173800 |
Syndromic Diarrhea |
|
Villous atrophy, Brittle hair, Bicuspid aortic valve, Abnormality of the liver, Colitis, Hypoplas... |
ORPHA:84064 |
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome |
|
Mandibular prognathia, Prominent metopic ridge, Tented upper lip vermilion, Abnormality of the ki... |
ORPHA:521445 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Micrognathia, Hemivertebrae, Nephrocalci... |
OMIM:268310 |
Noonan Syndrome 12 |
|
11 pairs of ribs, Lymphopenia, Ventricular septal defect, Decreased response to growth hormone st... |
OMIM:618624 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Short stature, Facial palsy, Congenital diaphragmatic hernia, Micrognat... |
OMIM:301022 |
Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Bronchiectasis, Right aortic arch, Hypothyroidism, Goiter |
OMIM:617577 |
Xp22.13P22.2 Duplication Syndrome |
|
Mandibular prognathia, Short stature, Congenital diaphragmatic hernia, Short neck, Pectus excavat... |
ORPHA:284180 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Hepatomegaly, Hepatic cysts, Malformation of the hepatic ductal plate, Asplenia, Situs inversus t... |
OMIM:615415 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Short neck, Wide anterior fontanel, P... |
OMIM:263210 |
Frontometaphyseal Dysplasia 2 |
|
Decreased muscle mass, Congenital hip dislocation, Bicuspid aortic valve, Elbow contracture, Deep... |
OMIM:617137 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Mandibular prognathia, Chronic gastritis, Osteopenia, Bicuspid aortic valve, Mild postnatal growt... |
OMIM:150230 |
Blue Rubber Bleb Nevus |
|
Prolonged bleeding time, Microcytic anemia, Bone pain, Intestinal bleeding, Gastrointestinal infa... |
ORPHA:1059 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Micrognathia, Abnormal form of the vertebral bodies, Orofacial cleft, Down... |
OMIM:194190 |
Tonne-Kalscheuer Syndrome |
|
Hypospadias, Short stature, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Veloph... |
OMIM:300978 |
Extracranial Carotid Artery Aneurysm |
|
Diabetes mellitus, Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Upper limb muscle weakn... |
ORPHA:494424 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Joint laxity, Short stature, Patent... |
OMIM:300968 |
Fanconi Anemia, Complementation Group R |
|
Absent thumb, Hydrocephalus, Agenesis of permanent teeth, Growth delay, Anemia, Bone marrow hypoc... |
OMIM:617244 |
Monosomy 18P |
|
Alopecia, Short stature, Kyphoscoliosis, Micrognathia, Short neck, Carious teeth, Pectus excavatu... |
ORPHA:1598 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Thin upper lip vermilion, Overriding aorta, Micrognathia, Frontal hirsutism, Cryptorchidism, Pate... |
ORPHA:3304 |
Halperin-Birk Syndrome |
|
Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Optic atroph... |
OMIM:618651 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Multiple joint contractures, Camptodactyly of finger, Abnormal pleura morphology, Micrognathia, S... |
ORPHA:2570 |
Adams-Oliver Syndrome 6 |
|
Tricuspid regurgitation, Ventricular septal defect, Portal hypertension, Splenomegaly, Esophageal... |
OMIM:616589 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Spina bifida, Micrognathia, Dextroc... |
ORPHA:2437 |
Atrial Septal Defect, Sinus Venosus Type |
|
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... |
ORPHA:99105 |
Pericardial And Diaphragmatic Defect |
|
Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern... |
ORPHA:2847 |
Sifrim-Hitz-Weiss Syndrome |
|
Atrial septal defect, Renal insufficiency, Wormian bones, Hypogonadotropic hypogonadism, Ventricu... |
OMIM:617159 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Hypospadias, Down-sloping shoulders, Congenital diaphragmatic herni... |
ORPHA:1520 |
49,Xxxxy Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Short neck, Pulmonary embolism, Gastroesophageal refl... |
ORPHA:96264 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Short stature, Hyperl... |
OMIM:617450 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Short stature, Cryptorchidism, Ve... |
OMIM:192430 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Short neck, Micrognathia, Synophrys, High palate, W... |
OMIM:612474 |
Superficial Siderosis |
|
Back pain, Enlarged sylvian cistern, Abnormal bleeding, Subarachnoid hemorrhage, Internal hemorrh... |
ORPHA:247245 |
Currarino Syndrome |
|
Sacrococcygeal teratoma, Hypoplasia of penis, Hypospadias, Aplasia/Hypoplasia of the sacrum, Abno... |
ORPHA:1552 |
Loeys-Dietz Syndrome 1 |
|
Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve... |
OMIM:609192 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Agenesis of corpus callosum, Iris coloboma, Ab... |
ORPHA:2308 |
Foix-Alajouanine Syndrome |
|
Back pain, Low back pain, Neurogenic bladder, Distal lower limb amyotrophy, Urinary incontinence,... |
ORPHA:79093 |
Distal Duplication 15Q |
|
Omphalocele, Congenital muscular torticollis, Camptodactyly of finger, Micrognathia, Pectus excav... |
ORPHA:1707 |
Proteus Syndrome |
|
Decreased muscle mass, Lymphedema, Neoplasm of the thymus, Pulmonary embolism, Abnormal lung loba... |
ORPHA:744 |
Rapidly Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Lipoatrophy, Telangiectasia of the... |
ORPHA:141184 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal... |
OMIM:619522 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Mandibular prognathia, Joint laxity, Prominent metopic ridge, Bicuspid aortic valve, Short statur... |
OMIM:619721 |
Catel-Manzke Syndrome |
|
Ventricular septal defect, Short stature, Camptodactyly of finger, Micrognathia, Pectus excavatum... |
ORPHA:1388 |
Cenani-Lenz Syndactyly Syndrome |
|
Premature loss of permanent teeth, Hypoplasia of the ulna, Renal agenesis, Ectopic kidney, Microg... |
OMIM:212780 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Congenital muscular torticollis, Thin upper lip vermilion, Congenital hip dislocation, Bicuspid a... |
ORPHA:457279 |
Dural Sinus Malformation |
|
Papilledema, Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Hyd... |
ORPHA:97339 |
Congenital Disorder Of Glycosylation, Type Iie |
|
Skeletal muscle atrophy, Micrognathia, Short neck, Secundum atrial septal defect, Low anterior ha... |
OMIM:608779 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Fetal Encasement Syndrome |
|
Omphalocele, Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Ho... |
OMIM:613630 |
Vascular Ehlers-Danlos Syndrome |
|
Joint dislocation, Congenital hip dislocation, High, narrow palate, Osteoarthritis, Abnormality o... |
ORPHA:286 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Severe short stature, Hyperlordosis, Short neck, Missing ribs, ... |
ORPHA:1797 |
Distal 22Q11.2 Microduplication Syndrome |
|
Mandibular prognathia, Micrognathia, High palate, Short philtrum, Camptodactyly of toe, Branchial... |
ORPHA:261337 |
Tetraamelia-Multiple Malformations Syndrome |
|
Abnormally ossified vertebrae, Multicystic kidney dysplasia, Septo-optic dysplasia, Polyhydramnio... |
ORPHA:3301 |
Isolated Thyroid-Stimulating Hormone Deficiency |
|
Decreased thyroid-stimulating hormone level, Delayed cranial suture closure, Decreased circulatin... |
ORPHA:90674 |
Oeis Complex |
|
Congenital hip dislocation, Epispadias, Hemivertebrae, Anteriorly placed anus, Duplicated colon, ... |
OMIM:258040 |
Caudal Regression Syndrome |
|
Ureteral duplication, Renal insufficiency, Decreased muscle mass, Renal agenesis, Maternal diabet... |
ORPHA:3027 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Anal stenosis, Atrial septal defect, Aganglionic megacolon,... |
OMIM:614749 |
Mosaic Trisomy 16 |
|
Maternal diabetes, Abnormal lung morphology, Anteriorly placed anus, Atrial septal defect, Abnorm... |
ORPHA:1708 |
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts |
|
Hepatomegaly, Optic disc pallor, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Neona... |
OMIM:613730 |
Opitz-Kaveggia Syndrome |
|
Multiple joint contractures, Dental crowding, Short neck, Micrognathia, Partial agenesis of the c... |
OMIM:305450 |
Alagille Syndrome |
|
Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short philtru... |
ORPHA:52 |
Feingold Syndrome Type 1 |
|
Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Nephritis, Short sta... |
ORPHA:391641 |
Monosomy 13Q34 |
|
Epistaxis, Micrognathia, Fetal pyelectasis, Growth delay, Agenesis of corpus callosum, Hematochez... |
ORPHA:96168 |
Fibrochondrogenesis 1 |
|
Short neck, Hydrops fetalis, Short palm, Patent foramen ovale, Widely patent sagittal suture, Pos... |
OMIM:228520 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Aqueductal stenosis, Fetal pyele... |
OMIM:619512 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Delayed eruption of teeth, Wolff-Parkinson-White syndrome, Abnormal dental morphology, Micrognath... |
ORPHA:369950 |
Sneddon Syndrome |
|
Bicuspid aortic valve, Facial palsy, Cerebral hemorrhage, Hypertension, Atrophic scars, Stroke, I... |
OMIM:182410 |
Capillary Malformation-Arteriovenous Malformation |
|
Abnormal bleeding, Neurogenic bladder, Peripheral arteriovenous fistula, Nonimmune hydrops fetali... |
ORPHA:137667 |
Phaver Syndrome |
|
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Short thumb, Myelomeningocel... |
ORPHA:2876 |
Marfan Syndrome |
|
Decreased muscle mass, Bicuspid aortic valve, Genu recurvatum, Dental crowding, Micrognathia, Inc... |
OMIM:154700 |
Oligomeganephronia |
|
Branchial cyst, Pulmonary venous occlusion, Congenital diaphragmatic hernia, Micrognathia, Secund... |
ORPHA:2260 |
Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Aganglionic megacolon, Cleft soft palate, Accessory oral frenulum, Abnormality ... |
ORPHA:2919 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Recurrent urinary tract infections, Ventricular septal defect, ... |
OMIM:616777 |
22Q11.2 Duplication Syndrome |
|
Ventricular septal defect, Micrognathia, Urethral stenosis, Cleft palate, Growth delay, Aplasia/H... |
ORPHA:1727 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Mandibular prognathia, Tented upper lip vermilion, Polyhydramnios, Short neck, Micrognathia, Hypo... |
ORPHA:96334 |
Gm1-Gangliosidosis, Type Ii |
|
Hepatomegaly, Protruding tongue, Joint stiffness, Splenomegaly, Patent ductus arteriosus, Narrow ... |
OMIM:230600 |
Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Pedal edema, Atrial septal defect, Patent fora... |
ORPHA:980 |
Desmosterolosis |
|
Rhizomelia, Micrognathia, Generalized osteosclerosis, Hydrocephalus, Patent ductus arteriosus, Pa... |
OMIM:602398 |
Genitopalatocardiac Syndrome |
|
Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor... |
ORPHA:2075 |
Aortic Aneurysm, Familial Thoracic 4 |
|
Cystic medial necrosis, Aortic regurgitation, Anterior cerebral artery stenosis, Posterior cerebr... |
OMIM:132900 |
Aymé-Gripp Syndrome |
|
Congenital diaphragmatic hernia, Oligodontia, Prominent metopic ridge, Short stature, Pericardial... |
ORPHA:1272 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Aplasia/Hypoplasia of the thumb, Overriding aorta, Median cleft ... |
ORPHA:3186 |
Non-Involuting Congenital Hemangioma |
|
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... |
ORPHA:141179 |
Hypothyroidism Due To Tsh Receptor Mutations |
|
Edema, Goiter, Delayed proximal femoral epiphyseal ossification, Elevated circulating thyroid-sti... |
ORPHA:90673 |
Chromosome 18Q Deletion Syndrome |
|
Mandibular prognathia, Decreased response to growth hormone stimulation test, Short neck, Low ant... |
OMIM:601808 |
Weiss-Kruszka Syndrome |
|
Prominent metopic ridge, Bicuspid aortic valve, Ventricular septal defect, Exaggerated cupid's bo... |
OMIM:618619 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Dysplastic corpus callosum, Perimembranous ventricular... |
OMIM:620135 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip,... |
OMIM:601357 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Anteriorly placed anus, High palate, S... |
OMIM:218600 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Accelerate... |
ORPHA:1354 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ectopic kidney, Hypoplasia of the maxilla, Micrognathia, Hemivertebrae, ... |
OMIM:164210 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Recurrent fractures, Chronic noninfectious lymphadenopathy, Bone pa... |
ORPHA:319487 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Recurrent respiratory infections, Severe short stature, Block verteb... |
OMIM:277300 |
Congenital Heart Defects, Multiple Types, 9 |
|
Aortopulmonary collateral arteries, Mitral atresia, Pectus excavatum, Arteria lusoria, Double out... |
OMIM:620294 |
Becker Nevus Syndrome |
|
Lipoatrophy, Supernumerary nipple, Micromelia, Pectus excavatum, Kyphosis, Rib fusion, Pectus car... |
ORPHA:64755 |
Greenberg Dysplasia |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Beaded ribs, Multiple prenatal fractures... |
OMIM:215140 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Micrognathia, Ectopic kidney, Cleft upper lip, Cleft palate, Abnormal heart morphology, Small the... |
OMIM:239800 |
12Q14 Microdeletion Syndrome |
|
Skeletal muscle atrophy, Diabetes mellitus, Short stature, Intestinal malrotation, Ectopic kidney... |
ORPHA:94063 |
Cardiofacioneurodevelopmental Syndrome |
|
Ventricular septal defect, Micrognathia, Asplenia, Cryptorchidism, Kyphosis, Cleft lip, Cleft pal... |
OMIM:619123 |
Congenital Tracheomalacia |
|
Cardiomegaly, Gastroesophageal reflux, Atrial septal defect, Emphysema, Single ventricle, Esophag... |
ORPHA:95430 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Hypoplasia of penis, Hypospadias, Cryptorchidism, Genu valgum, Abnormal palate morphology, Tetral... |
ORPHA:1381 |
Gm1 Gangliosidosis Type 1 |
|
Spatulate ribs, Gingival overgrowth, Hydrops fetalis, Hepatosplenomegaly, Hypoplastic vertebral b... |
ORPHA:79255 |
Distal Deletion 10P |
|
Hypoplasia of penis, Short stature, Micrognathia, Short neck, Cryptorchidism, Non-midline cleft l... |
ORPHA:1580 |
Tetrasomy 15Q26 |
|
Microretrognathia, Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephal... |
OMIM:614846 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Alobar holoprosencephaly, Micrognathia, Gastroesophageal reflux, Thoracic ... |
OMIM:301043 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Anal atresia, Optic nerve dysplasia, Scoliosis |
OMIM:246000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Polyhydramnios, High palate,... |
OMIM:614080 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Micrognathia, Early ossification of capital femoral epiphyses, Abnormal ... |
ORPHA:397715 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Micrognathia, Hemivert... |
ORPHA:958 |
Myhre Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Short philtrum, Atrial septal defec... |
OMIM:139210 |
Larsen Syndrome |
|
Cervical kyphosis, Short metatarsal, Pectus carinatum, Knee dislocation, Atrial septal defect, Sp... |
OMIM:150250 |
De Barsy Syndrome |
|
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Generalized joint laxity, Prominen... |
ORPHA:2962 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,... |
ORPHA:513456 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Micrognathia, Short neck, Lateral clavicle hook, Long thorax, Narrow chest, Neonatal death, Short... |
OMIM:617925 |
Giant Cell Arteritis |
|
Gastrointestinal infarctions, Abdominal aortic aneurysm, Alopecia, Diabetes insipidus, Sudden car... |
ORPHA:397 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Short stature, Kyphosis, Hyp... |
OMIM:609813 |
Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Proteinuria, Intestinal malrotation, Congenital diaphragm... |
ORPHA:2143 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Bicuspid aortic valve, Deep philtrum, Gastroesophageal reflux, Aspiration pneumonia, ... |
ORPHA:438213 |
Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Joint laxity, Thoracic aortic aneurysm, Bicuspid aortic valve, Dental crowd... |
OMIM:617168 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominence of the premaxilla, Short stature, Delayed closure of the anterior fontanelle, Wide ant... |
OMIM:614886 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal cyst, Lobulated tongue, Narrow chest, Short tibia, Dandy-Walker malformation, Unicoronal sy... |
OMIM:616300 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Recurrent fractures, Chronic noninfectious lymphadenopathy, Goiter, Abnormal neck blood vessel mo... |
ORPHA:97290 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Overriding aorta, Hypospadias, Ventricular septal defect, Short stature, Congenital diaphragmatic... |
OMIM:309801 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Polyhydramnios, Short neck, Deep philtrum, Pectus carinatum, Coarse hair, High palate, Widely spa... |
OMIM:617506 |
Cat-Eye Syndrome |
|
Short stature, Renal hypoplasia/aplasia, Abnormal rib morphology, Abnormal localization of kidney... |
ORPHA:195 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Micrognathia, Epispadias, Partial agenesis of the corpus callosum, Aplas... |
OMIM:615948 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Short philtrum, Widely spaced teeth, Chorioretinal coloboma, Sparse hair, Hepatomegaly, Highly ar... |
OMIM:280000 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, High, narrow palate, Synophrys, Abnormal curvature of the verte... |
OMIM:619475 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... |
OMIM:619702 |
Kbg Syndrome |
|
Vertebral fusion, Persistent open anterior fontanelle, Thin upper lip vermilion, Short stature, M... |
ORPHA:2332 |
Microphthalmia, Syndromic 2 |
|
Flexion contracture, Oligodontia, Fused teeth, Laterally curved eyebrow, Atrial septal defect, Co... |
OMIM:300166 |
Arachnoid Cyst |
|
Back pain, Enlarged fossa interpeduncularis, Encephalocele, Urinary incontinence, Subarachnoid he... |
ORPHA:2356 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Microretrognathia, Agenesis of corpus callosum, Dysphagia, Atrial septal defect, Intrauterine gro... |
ORPHA:89844 |
X Small Rings |
|
Joint laxity, Thin upper lip vermilion, Bicuspid aortic valve, Ventricular septal defect, Short n... |
ORPHA:96201 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Flna-Related X-Linked Myxomatous Valvular Dysplasia |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Micrognathia, Pectus excava... |
ORPHA:555877 |
Dextrocardia |
|
Meckel diverticulum, Abnormal EKG, Congenital hip dislocation, Intestinal malrotation, Dextrocard... |
ORPHA:1666 |
Meckel Syndrome |
|
Ureteral duplication, Micrognathia, Asplenia, Urethral atresia, Dandy-Walker malformation, Enceph... |
ORPHA:564 |
Vater/Vacterl Association |
|
Occipital encephalocele, Ectopic kidney, Abnormal sternum morphology, Patent urachus, Vesicourete... |
OMIM:192350 |
Stormorken Syndrome |
|
Abnormal bleeding, Short stature, Howell-Jolly bodies, Subarachnoid hemorrhage, Epistaxis, Asplen... |
OMIM:185070 |
Diamond-Blackfan Anemia 10 |
|
Macrocytic anemia, Ventricular septal defect, Short stature, Congenital diaphragmatic hernia, Mic... |
OMIM:613309 |
Complete Atrioventricular Septal Defect |
|
Cardiomegaly, Atrioventricular block, Primum atrial septal defect, Displacement of the papillary ... |
ORPHA:1329 |
Thanatophoric Dysplasia |
|
Abnormality of the kidney, Polyhydramnios, Joint stiffness, Micromelia, Abnormal sacroiliac joint... |
ORPHA:2655 |
Neuronal Intestinal Pseudoobstruction |
|
Natal tooth, Congenital diaphragmatic hernia, Malabsorption, Patent ductus arteriosus, Abnormal c... |
ORPHA:99811 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Osteopenia, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Pect... |
OMIM:182212 |
Wrinkly Skin Syndrome |
|
Osteopenia, Congenital hip dislocation, High palate, Microdontia, Sparse hair, Microretrognathia,... |
OMIM:278250 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Accele... |
OMIM:602535 |
Ivic Syndrome |
|
Limited elbow movement, Pectoralis major hypoplasia, Hypoplasia of the ulna, Limited interphalang... |
OMIM:147750 |
Schimke Immuno-Osseous Dysplasia |
|
Short neck, Neutropenia, Microdontia, Nephropathy, Nephrotic range proteinuria, Lumbar hyperlordo... |
ORPHA:1830 |
Hereditary Hemorrhagic Telangiectasia |
|
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Microcytic anemia, Pulmonary ... |
ORPHA:774 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Short stature, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of l... |
OMIM:230650 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Abnormality of the liver, Atrial septal defect, Aplasia of the p... |
ORPHA:2369 |
Poland Syndrome |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Micrognathia, Multiple joint dislocation, Pectus carinat... |
ORPHA:536467 |
Birk-Aharoni Syndrome |
|
Duplicated collecting system, Macrocytic anemia, Micrognathia, Cryptorchidism, Muscular ventricul... |
OMIM:620071 |
Intellectual Developmental Disorder, Autosomal Dominant 21 |
|
Sacral dimple, Short stature, Cryptorchidism, Patent ductus arteriosus, Incisor macrodontia, Clef... |
OMIM:615502 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Costal cartilage calcif... |
OMIM:222600 |
Acrocallosal Syndrome |
|
Mandibular prognathia, Downturned corners of mouth, Coloboma, High palate, Short philtrum, Microp... |
OMIM:200990 |
Aarskog-Scott Syndrome |
|
Genu recurvatum, Short neck, Hypoplasia of the maxilla, Orofacial cleft, Short palm, Abnormal ver... |
ORPHA:915 |
Coffin-Siris Syndrome 7 |
|
Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Ventricular septal defect, Bicuspid a... |
OMIM:618027 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Hyperlordosis, Kyphos... |
OMIM:606612 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Kyphosis, High palate, Short philtrum, Micropenis, Agen... |
OMIM:615433 |
Mucopolysaccharidosis, Type Ivb |
|
Mandibular prognathia, Widely spaced teeth, Flaring of rib cage, Chondroitin sulfate excretion in... |
OMIM:253010 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolo... |
OMIM:239300 |
Acro-Renal-Ocular Syndrome |
|
Coloboma, Vertebral segmentation defect, Chorioretinal coloboma, Vesicoureteral reflux, Iris colo... |
ORPHA:959 |
Diastrophic Dysplasia |
|
Joint dislocation, Abnormal clavicle morphology, Recurrent respiratory infections, Increased bone... |
ORPHA:628 |
Genetic Transient Congenital Hypothyroidism |
|
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... |
ORPHA:226316 |
Holoprosencephaly 5 |
|
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Deep philtrum, Synophrys, Orofacial cle... |
OMIM:609637 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Severe short stature, Camptodactyly of finger, Micromeli... |
ORPHA:2635 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Decreased response to growth hormone stimulation test, Short neck, Hemivertebrae, Low anterior ha... |
OMIM:618223 |
Cat-Eye Syndrome (Type I) |
|
Short stature, Micrognathia, Abnormal heart morphology, Iris coloboma, Anal atresia |
DECIPHER:42 |
Congenital Gerbode Defect |
|
Pedal edema, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpho... |
ORPHA:99095 |
Wyburn-Mason Syndrome |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral hemorrhage, Abnormal cerebral vascular morp... |
ORPHA:53719 |
Spondylometaphyseal Dysplasia, Corner Fracture Type |
|
Short stature, Ovoid vertebral bodies, Hypoplasia of the odontoid process, Pectus carinatum, Hype... |
OMIM:184255 |
Alstrom Syndrome |
|
Chronic active hepatitis, Decreased response to growth hormone stimulation test, Accelerated skel... |
OMIM:203800 |
Juvenile Polyposis Syndrome |
|
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Cerebral arteriovenous malformat... |
ORPHA:2929 |
Atrial Septal Defect 8 |
|
Atrial septal defect, Anomalous pulmonary venous return |
OMIM:614433 |
Cenani-Lenz Syndrome |
|
Micromelia, High, narrow palate, Abnormal form of the vertebral bodies, Short philtrum, Foot olig... |
ORPHA:3258 |
Pulmonary Venoocclusive Disease 2, Autosomal Recessive |
|
Pulmonary capillary hemangiomatosis, Pulmonary venous occlusion, Pulmonary arterial hypertension,... |
OMIM:234810 |
Donnai-Barrow Syndrome |
|
Omphalocele, Diaphragmatic eventration, Proteinuria, Intestinal malrotation, Ventricular septal d... |
OMIM:222448 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Coronary-pulmonary artery fistula, Micrognathia, Pectus excavatum, Congenital diaphragmatic herni... |
OMIM:619699 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of neutrophils, Micrognathia, Rectal prolapse, Low a... |
ORPHA:235 |
Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal d... |
OMIM:618354 |
Squalene Synthase Deficiency |
|
Hypospadias, Optic nerve hypoplasia, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidis... |
OMIM:618156 |
Townes-Brocks Syndrome |
|
Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Chorioretinal coloboma, Atrial septa... |
ORPHA:857 |
Tarp Syndrome |
|
Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Cryptorchidism, S... |
ORPHA:2886 |
Proteus Syndrome |
|
Kyphoscoliosis, Splenomegaly, Facial hyperostosis, Open mouth, Spinal canal stenosis, Multiple li... |
OMIM:176920 |
Blau Syndrome |
|
Xerostomia, Large vessel vasculitis, Abnormality of the liver, Nephropathy, Abnormal salivary gla... |
ORPHA:90340 |
Perlman Syndrome |
|
Distal ileal atresia, Nephrogenic rest, Tented upper lip vermilion, Renal hamartoma, Congenital d... |
OMIM:267000 |
Focal Dermal Hypoplasia |
|
Ureteral duplication, Congenital hip dislocation, Brittle hair, Congenital diaphragmatic hernia, ... |
OMIM:305600 |
Atelosteogenesis, Type I |
|
Polyhydramnios, Short neck, Micrognathia, Short metatarsal, Knee dislocation, Narrow chest, Neona... |
OMIM:108720 |
Renpenning Syndrome 1 |
|
Mandibular prognathia, Brittle hair, Micrognathia, Coloboma, High palate, Short philtrum, Atrial ... |
OMIM:309500 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Intestinal malrotation, Partial atrioventricular canal defect, Situs inversus totalis, Primum atr... |
OMIM:619608 |
Hypoglossia With Situs Inversus |
|
Micrognathia, Asplenia, Situs inversus totalis, High palate, Hypodontia, Polysplenia, Narrow mout... |
OMIM:612776 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo... |
OMIM:115197 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Dilated Cardiomyopathy With Ataxia |
|
Prolonged QT interval, Hypoplasia of penis, Diaphragmatic eventration, Bilateral cryptorchidism, ... |
ORPHA:66634 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Osteopenia, Renal insufficiency, Proteinuria, Ankle swelling, Congenital diaphragmatic hernia, Mi... |
OMIM:166300 |
Kagami-Ogata Syndrome |
|
Polyhydramnios, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, Atrial septal defec... |
OMIM:608149 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Short stature, Congenital diaphragmatic hernia, Micrognathia, Microdont... |
ORPHA:1915 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Bicuspid aortic valve, Short neck, Micrognathia, Delayed proximal femoral epiphyseal ossification... |
OMIM:271640 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Renal agenesis, Short stature, Short neck, Ectopic kidney, Abnormal rib morphology, Low posterior... |
ORPHA:2578 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Mandibular prognathia, Aortic regurgitation, Bicuspid aortic valve, Cervical kyphosis, Short stat... |
ORPHA:401923 |
Frontonasal Dysplasia 1 |
|
Frontal cutaneous lipoma, Pericallosal lipoma, Median cleft lip, Hypoplasia of the maxilla, Widow... |
OMIM:136760 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Edema of the dorsum of feet, Congenital d... |
OMIM:601803 |
X-Linked Intellectual Disability, Nascimento Type |
|
Abnormal hair whorl, Deep philtrum, Synophrys, Downturned corners of mouth, Neutropenia, Vesicour... |
ORPHA:163956 |
Gm1 Gangliosidosis |
|
Mandibular prognathia, Hydrops fetalis, Abnormal form of the vertebral bodies, Gastroesophageal r... |
ORPHA:354 |
Glossopharyngeal Neuralgia |
|
Abnormality of the cervical spine, Oral-pharyngeal dysphagia, Cranial nerve compression, Schwanno... |
ORPHA:221098 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Hemivertebrae, Rib fusion, Disp... |
OMIM:608681 |
Aorta Coarctation |
|
Pseudocoarctation of the aorta, Bicuspid aortic valve, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Fanconi Anemia, Complementation Group Q |
|
Short stature, Absent thumb, Esophageal atresia, Biliary atresia, Primum atrial septal defect, An... |
OMIM:615272 |
Osteogenesis Imperfecta |
|
Osteopenia, Abnormality of dental color, Cervical kyphosis, Micromelia, Micrognathia, Osteoarthri... |
ORPHA:666 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Mandibular prognathia, Mild postnatal growth retardation, Accelerated skeletal maturation, Hypopl... |
OMIM:101800 |
Joubert Syndrome 18 |
|
Joint laxity, Occipital encephalocele, Trident pelvis, Ventricular septal defect, Kyphoscoliosis,... |
OMIM:614815 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Short stature, Abnormality of the philtrum, Abnormality of the dentition, Delayed skeletal matura... |
ORPHA:3268 |
Igg4-Related Kidney Disease |
|
Renal interstitial immunoglobulin deposits, Abnormal lung morphology, Lymphadenitis, Sterile pyur... |
ORPHA:449395 |
Cog1-Cdg |
|
Osteopenia, Irregularity of vertebral bodies, Short neck, Micrognathia, Vertebral segmentation de... |
ORPHA:263508 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respir... |
OMIM:619170 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Thin upper lip vermilion, Atrial flutter, Overriding aorta, Ventricular septal defec... |
OMIM:601927 |
Coronary Arterial Fistula |
|
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Pedal edema, Right ventricular dila... |
ORPHA:2041 |
Toriello-Carey Syndrome |
|
Short neck, Micrognathia, Partial agenesis of the corpus callosum, Anteriorly placed anus, High p... |
ORPHA:3338 |
Wiedemann-Rautenstrauch Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Congenital malformation of the... |
ORPHA:3455 |
Doors Syndrome |
|
Adrenal hyperplasia, Short lingual frenulum, Polyhydramnios, Hemivertebrae, Low anterior hairline... |
ORPHA:79500 |
Cohen Syndrome |
|
Thoracic scoliosis, Decreased response to growth hormone stimulation test, Micrognathia, Hypoplas... |
OMIM:216550 |
Down Syndrome |
|
Joint laxity, Aganglionic megacolon, Short neck, Renal hypoplasia/aplasia, Protruding tongue, Abn... |
ORPHA:870 |
Pulmonary Venoocclusive Disease 1, Autosomal Dominant |
|
Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Interlo... |
OMIM:265450 |
Frank-Ter Haar Syndrome |
|
Osteopenia, Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect... |
OMIM:249420 |
Meier-Gorlin Syndrome 7 |
|
Urethral stricture, Heart block, Anteriorly placed anus, Vertebral segmentation defect, High pala... |
OMIM:617063 |
Prune Belly Syndrome |
|
Hydroureter, Congenital hip dislocation, Pectus excavatum, Cryptorchidism, Patent ductus arterios... |
OMIM:100100 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Polyhydramnios, Short neck, Micrognathia, Beaded ribs, Cardiomegaly, Flexion contract... |
OMIM:616897 |
Melorheostosis |
|
Skeletal muscle atrophy, Increased bone mineral density, Peripheral arteriovenous fistula, Joint ... |
ORPHA:2485 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Coarse hair, Micropenis, Pancreatic ... |
ORPHA:83617 |
Periventricular Nodular Heterotopia 1 |
|
Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Stroke, Short finger |
OMIM:300049 |
Alg3-Cdg |
|
Abnormality of the gastrointestinal tract, Osteopenia, Lipodystrophy, Abnormality of the endocrin... |
ORPHA:79321 |
Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
Cardiac Valvular Dysplasia 1 |
|
Edema, Arteria lusoria, Hydrops fetalis, Atrial septal defect, Pulmonary artery atresia, Patent f... |
OMIM:212093 |
Heterotaxy, Visceral, 2, Autosomal |
|
Intestinal malrotation, Dextrocardia, Asplenia, Situs inversus totalis, Atrioventricular canal de... |
OMIM:605376 |
Otopalatodigital Syndrome Type 2 |
|
Micrognathia, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral segmentatio... |
ORPHA:90652 |
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Female hypogonadism, Cholelithi... |
OMIM:240300 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:312150 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Renal agenesis, Short stature, Unilateral renal agenesis, Micrognathia, Ectopic kidney, Cleft upp... |
OMIM:601076 |
Gracile Bone Dysplasia |
|
Short stature, Asplenia, Hydrocephalus, Thin ribs, Micropenis, Ascites, Aniridia, Hypoplastic spl... |
OMIM:602361 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... |
DECIPHER:39 |
Johanson-Blizzard Syndrome |
|
Hypoplasia of penis, Edema, Anteriorly placed anus, Oligodontia, Microdontia, Alopecia, Hypospadi... |
ORPHA:2315 |
Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... |
OMIM:618782 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Accelerated skeletal maturation, Flexion contracture, Hydrops fetalis... |
OMIM:253220 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Atrial septal defect, Aplastic clavicle, Short neck, Hamartoma of tongue, Congenital diaphragmati... |
OMIM:616546 |
16P13.11 Microdeletion Syndrome |
|
Smooth philtrum, Thin upper lip vermilion, Ventricular septal defect, Short stature, Camptodactyl... |
ORPHA:261236 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Skeletal muscle atrophy, Micrognathia, High, narrow palate, Deep philtrum,... |
ORPHA:435638 |
Hunter-Macdonald Syndrome |
|
Bicuspid aortic valve, Pectus carinatum, Short philtrum, Hypospadias, Short stature, Patent ductu... |
OMIM:611962 |
Roifman-Chitayat Syndrome |
|
Osteopenia, Short metacarpal, Pneumonia, Short neck, Ectopic kidney, Thin lower lip vermilion, Op... |
OMIM:613328 |
Fanconi Anemia, Complementation Group O |
|
Short stature, Absent thumb, Cryptorchidism, Short thumb, Rectal atresia, Hypoplasia of the radiu... |
OMIM:613390 |
Apert Syndrome |
|
Mandibular prognathia, Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum,... |
OMIM:101200 |
Mucopolysaccharidosis, Type Iiid |
|
Thoracic scoliosis, Thickened ribs, Short neck, Synophrys, Ovoid thoracolumbar vertebrae, Hypopla... |
OMIM:252940 |
Arterial Dissection-Lentiginosis Syndrome |
|
Arterial dissection, Arteriovenous malformation |
ORPHA:1682 |
Trisomy 20P |
|
Short neck, Micrognathia, Low anterior hairline, Abnormal form of the vertebral bodies, Reduced b... |
ORPHA:261318 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular septal defect, Congenital dia... |
OMIM:611812 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Decreased muscle mass, Cervical kyphosis, Generalized joint laxity, Functional abnormality of the... |
ORPHA:2953 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Tricuspid regurgitation, Cardiomegaly, Pericardial effusion, Anomalous pulmonary ve... |
ORPHA:555874 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Inguinal hernia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Delayed skeletal maturat... |
OMIM:614857 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Abnormal number of hair whorls, Mitral atresia, Patent ductus arteriosus, Optic atrophy, Coarctat... |
OMIM:618164 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
|
Joint dislocation, Micromelia, Accelerated skeletal maturation, Finger joint hypermobility, Atria... |
OMIM:618870 |
Phakomatosis Pigmentovascularis |
|
Arteriovenous malformation, Reduced bone mineral density |
ORPHA:2875 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Joint dislocation, Osteopenia, Thoracic scoliosis, Widened atrophic scar, Micrognathia, Prominent... |
ORPHA:536532 |
Fanconi Anemia, Complementation Group I |
|
Decreased response to growth hormone stimulation test, Short neck, Neutropenia, Atrial septal def... |
OMIM:609053 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Anal atresia, Lower limb undergrowth, Scoliosis, Hyperlordosis |
ORPHA:2310 |
Capillary Malformation-Arteriovenous Malformation 1 |
|
Arteriovenous fistula, Arteriovenous malformation |
OMIM:608354 |
Thymic-Renal-Anal-Lung Dysplasia |
|
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Intrauterine growth retar... |
OMIM:274265 |
Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Op... |
OMIM:620025 |
Codas Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Generalized joint laxity, Gastroesophageal reflux, At... |
OMIM:600373 |
Developmental And Speech Delay Due To Sox5 Deficiency |
|
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Exaggerated median tongue furrow... |
ORPHA:313892 |
Resistance To Thyrotropin-Releasing Hormone Syndrome |
|
Reduced circulating prolactin concentration, Delayed skeletal maturation, Elevated circulating th... |
ORPHA:99832 |
Mosaic Trisomy 14 |
|
Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Micrognathia, Short neck, Cryptorchidi... |
ORPHA:1703 |
Tetrasomy 9P |
|
Joint dislocation, Myositis, Dental crowding, Short neck, Micrognathia, Biliary atresia, Downturn... |
ORPHA:3310 |
Recombinant 8 Syndrome |
|
Micrognathia, Downturned corners of mouth, Abnormal sternum morphology, Atrial septal defect, Abn... |
ORPHA:96167 |
Aortic Valve Disease 3 |
|
Bicuspid aortic valve, Aortic root aneurysm, Ascending aortic dissection, Atrial septal defect, A... |
OMIM:618496 |
Tarp Syndrome |
|
Meckel diverticulum, Micrognathia, Pectus excavatum, Hypoplasia of the radius, Subdural hemorrhag... |
OMIM:311900 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Short neck, Pectus carinatum, Reduced bone mineral density, Iron deficiency anemia, High palate, ... |
ORPHA:93315 |
Acalvaria |
|
Omphalocele, Spina bifida, Hydrocephalus, Abnormal lung lobation, Cleft palate, Holoprosencephaly |
ORPHA:945 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
Venous Malformations, Multiple Cutaneous And Mucosal |
|
Intestinal bleeding, Venous malformation |
OMIM:600195 |
Diamond-Blackfan Anemia 7 |
|
Osteopenia, Small hypothenar eminence, Macrocytic anemia, Ventricular septal defect, Polyhydramni... |
OMIM:612562 |
White-Sutton Syndrome |
|
Duplicated collecting system, Ventral hernia, Inguinal hernia, Abnormality of the gastrointestina... |
ORPHA:468678 |
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia |
|
Bicuspid aortic valve, Short stature, Delayed skeletal maturation, Growth delay, Atrial septal de... |
OMIM:617744 |
Baller-Gerold Syndrome |
|
Aplasia/Hypoplasia of the thumb, Micrognathia, Abnormal carpal morphology, Anteriorly placed anus... |
ORPHA:1225 |
Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Lens coloboma, Coarctation of aorta,... |
ORPHA:42775 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Bicuspid aortic valve, Micrognathia, Microvesicular hepatic steatosis, Partial agenesis of the co... |
OMIM:220111 |
Intellectual Developmental Disorder, X-Linked 106 |
|
Thin upper lip vermilion, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Synophrys, Thick ve... |
OMIM:300997 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Dilation of Virchow-Robin spaces, Unilateral renal ag... |
OMIM:617190 |
Mucopolysaccharidosis, Type Iva |
|
Mandibular prognathia, Short neck, Pectus carinatum, Widely spaced teeth, Anterior beaking of lum... |
OMIM:253000 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Aplasia of the left hemidiaphragm, Adrenal insufficiency, Scoliosis, Intrauterine ... |
OMIM:618238 |
Cerebral Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:46724 |
Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 2 |
|
11 pairs of ribs, Short stature, Rhizomelia, Unilateral renal agenesis, Patent ductus arteriosus,... |
OMIM:617661 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Hypoplasia of penis, Cyclopia, Polyhydramnios, Situs inversus totalis, Holoprosencephaly, Narrow ... |
ORPHA:990 |
1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Short stature, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Short fo... |
ORPHA:250989 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation |
|
Short palm, Recurrent respiratory infections, Thin upper lip vermilion, Thick eyebrow, Synophrys,... |
ORPHA:466950 |
Spondylometaphyseal Dysplasia, Axial |
|
Short stature, Anterior rib cupping, Rhizomelia, Splenomegaly, Recurrent pneumonia, Optic atrophy... |
OMIM:602271 |
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... |
ORPHA:99050 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Micrognathia... |
OMIM:253290 |
Osteogenesis Imperfecta, Type Vii |
|
Osteopenia, Micromelia, Multiple prenatal fractures, Narrow chest, Short stature, Rhizomelia, Wid... |
OMIM:610682 |
Van Maldergem Syndrome 1 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:601390 |
Tatton-Brown-Rahman Syndrome |
|
Mandibular prognathia, Thick eyebrow, Tricuspid regurgitation, Joint hypermobility, Kyphoscoliosi... |
ORPHA:404443 |
Kleefstra Syndrome Due To A Point Mutation |
|
Natal tooth, Anal atresia, Inguinal hernia, Short stature, Abnormality of the kidney, Tracheomala... |
ORPHA:261652 |
Orofaciodigital Syndrome V |
|
Recurrent respiratory infections, Thin upper lip vermilion, Median cleft lip, Unilateral cryptorc... |
OMIM:174300 |
Bartsocas-Papas Syndrome 1 |
|
Short neck, Bilateral cryptorchidism, Hypoplasia of the maxilla, Ectopic kidney, Micrognathia, Fl... |
OMIM:263650 |
Mckusick-Kaufman Syndrome |
|
Urethral stricture, Multicystic kidney dysplasia, Aganglionic megacolon, Ventricular septal defec... |
ORPHA:2473 |
Schimke Immunoosseous Dysplasia |
|
Osteopenia, Short neck, Bilateral cryptorchidism, Elevated circulating thyroid-stimulating hormon... |
OMIM:242900 |
Fanconi Anemia, Complementation Group P |
|
Pancytopenia, Short stature, Micrognathia, Absent thumb, Cryptorchidism, Short thumb, Hypoplasia ... |
OMIM:613951 |
Retinitis Pigmentosa 89 |
|
Bicuspid aortic valve, Micronodular cirrhosis, Esophageal varix, Hepatosplenomegaly, Hepatic fibr... |
OMIM:618955 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Osteopenia, Irregular vertebral endplates, High palate, Bifid uvula, Dislocated radial head, Join... |
OMIM:612350 |
20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Hypospadias, Facial hypotonia, Highly arched eye... |
ORPHA:261311 |
Hengel-Maroofian-Schols Syndrome |
|
Thick eyebrow, Bicuspid aortic valve, Short stature, Foot joint contracture, Synophrys, Widely sp... |
OMIM:619641 |
Brachydactyly, Type B1 |
|
Vertebral fusion, Hypoplastic sacrum, Ventricular septal defect, Thoracolumbar scoliosis, Aplasia... |
OMIM:113000 |
Mandibulofacial Dysostosis With Alopecia |
|
Alopecia, Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth,... |
OMIM:616367 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Pedal edema, Aortopulmonary window, Absent pulse, Si... |
ORPHA:2299 |
Dysosteosclerosis |
|
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Ventricular... |
ORPHA:1782 |
Greig Cephalopolysyndactyly Syndrome |
|
Craniosynostosis, Congenital diaphragmatic hernia, Accelerated skeletal maturation, Hydrocephalus... |
ORPHA:380 |
Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Aspiration pneumonia, Hernia, Atrial septal d... |
ORPHA:1465 |
Vein Of Galen Aneurysmal Malformation |
|
Vascular dilatation, Peripheral arteriovenous fistula, Abnormal cerebral vascular morphology |
ORPHA:1053 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Inguinal hernia, Short stature, Highly arched eyebrow, Micrognathia, Cryptorchidism, Kyphosis, Ab... |
ORPHA:352490 |
Craniofrontonasal Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Sprengel anomaly, Agenesis of corpus callosum, Joint... |
OMIM:304110 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Hemivertebrae, Aplasia of the bladder, High palate... |
OMIM:200980 |
Heme Oxygenase 1 Deficiency |
|
Hepatomegaly, Hemolytic anemia, Proteinuria, Epistaxis, Diffuse alveolar hemorrhage, Asplenia, Ce... |
OMIM:614034 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Joint laxity, Recurrent respiratory infections, Inguinal hernia, Congenital diaphragmatic hernia,... |
OMIM:219100 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
OMIM:300998 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... |
OMIM:620066 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Elevated circulating thyroid-stimulating hormone concentration, Atrial septal... |
ORPHA:209905 |
Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Polyhydramnios, Narrow mouth, Atrial septal defect, Anal atresia |
ORPHA:3469 |
Ventriculomegaly With Defects Of The Radius And Kidney |
|
Ureteral duplication, Renal agenesis, Ectopic kidney, Vascular dilatation, Absent radius, Hydroce... |
OMIM:602200 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Pectus carinatum, Male ur... |
ORPHA:464738 |
Thrombocytopenia-Absent Radius Syndrome |
|
Abnormality of the kidney, Micrognathia, Aplasia/Hypoplasia of the patella, Absent radius, Aplasi... |
ORPHA:3320 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Micrognathia, Increased intervertebral space, Absent frontal ... |
OMIM:224300 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Atrial septal defect, Abnormal bleeding, Hepatomegaly, Paten... |
OMIM:614576 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Stiff neck, Micrognathia, Short neck, Cardiomegaly, Hydrops fetalis, Hypoplas... |
OMIM:617022 |
Maternal Phenylketonuria |
|
Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal morphology, Coarctati... |
ORPHA:2209 |
Serkal Syndrome |
|
Abnormal penis morphology, Hypoplasia of the bladder, Renal agenesis, Hypospadias, Ventricular se... |
ORPHA:139466 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Micrognathia, Optic atrophy, Gingival overgrowth, Low anterior hairline, Short upper lip, Short p... |
OMIM:616875 |
Noonan Syndrome 2 |
|
Polyhydramnios, Short neck, Micrognathia, Pectus carinatum, Abnormal sternum morphology, High pal... |
OMIM:605275 |
Cornelia De Lange Syndrome |
|
Hypoplasia of penis, Congenital diaphragmatic hernia, Short neck, Micrognathia, Micromelia, Synop... |
ORPHA:199 |
Vacterl With Hydrocephalus |
|
Polyhydramnios, Micrognathia, Aqueductal stenosis, Hemivertebrae, Abnormal form of the vertebral ... |
ORPHA:3412 |
Ciliary Dyskinesia, Primary, 39 |
|
Recurrent lower respiratory tract infections, Double outlet right ventricle, Dextrocardia, Bronch... |
OMIM:618254 |
Vacterl Association With Hydrocephalus |
|
Absent thumb, Aqueductal stenosis, Hydrocephalus, Renal hypoplasia, Abnormal heart morphology, Ab... |
OMIM:276950 |
Atrial Septal Defect, Coronary Sinus Type |
|
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Transient ischemic attack, Pne... |
ORPHA:99104 |
Tetraamelia Syndrome 2 |
|
Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H... |
OMIM:618021 |
Trisomy 8P |
|
Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Short... |
ORPHA:264450 |
Cowden Syndrome 5 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus e... |
OMIM:615108 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Hepatomegaly, Lumbar hyperlordosis, Micromelia, Short neck, Splenomegaly, Delayed e... |
OMIM:602557 |
Mungan Syndrome |
|
Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Renal... |
OMIM:611376 |
Cardiomyopathy, Dilated, 1S |
|
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... |
OMIM:613426 |
Kabuki Syndrome 2 |
|
Micrognathia, High palate, Atrial septal defect, Atrioventricular canal defect, Joint laxity, Sho... |
OMIM:300867 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ... |
OMIM:100300 |
Thyroid Hypoplasia |
|
Short stature, Jaundice, Growth delay, Macroglossia, Hypothyroidism, Thyroid hypoplasia |
ORPHA:95720 |
Pontocerebellar Hypoplasia, Type 11 |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Short stature, Coloboma, Dysphagia, Ag... |
OMIM:617695 |
Opitz Gbbb Syndrome |
|
Rectourethral fistula, High palate, Gastroesophageal reflux, Vesicoureteral reflux, Micropenis, A... |
OMIM:300000 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Agnathia-Otocephaly Complex |
|
Tracheomalacia, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Polyhydramni... |
OMIM:202650 |
Bardet-Biedl Syndrome 2 |
|
Diabetes mellitus, Bicuspid aortic valve, Dilated cardiomyopathy, Hypogonadism, Atrial septal defect |
OMIM:615981 |
Proximal 16P11.2 Microduplication Syndrome |
|
Thin upper lip vermilion, Short stature, Sparse eyelashes, Congenital diaphragmatic hernia, Abnor... |
ORPHA:370079 |
Duane Retraction Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia of the thumb, Patchy hypopigmentation of hair, Short ... |
ORPHA:233 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Bicuspid aortic valve, Polyhydramnios, Short neck, Lymphedema, Deep philtrum, Finger joint hyperm... |
OMIM:613563 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Joint laxity, Atrial septal defect, Thin upper lip vermilion, Hyperextensibility of the finger jo... |
OMIM:309520 |
Meckel Syndrome 14 |
|
Microretrognathia, Occipital encephalocele, Tricuspid regurgitation, Micrognathia, Short neck, In... |
OMIM:619879 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Short stature, Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of fing... |
ORPHA:1436 |
Fanconi Anemia, Complementation Group C |
|
Ectopic kidney, Flexion contracture, Anterior wedging of T12, Reticulocytopenia, Neutropenia, Sho... |
OMIM:227645 |
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Inguinal hernia, Alopecia, Ventricular septal defect, Short stature, Craniosynost... |
ORPHA:166035 |
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome |
|
Aortic regurgitation, Thin upper lip vermilion, Renal insufficiency, Renal agenesis, Mitral atres... |
ORPHA:140952 |
Short Stature, Microcephaly, And Endocrine Dysfunction |
|
Inguinal hernia, Diabetes mellitus, Short stature, Unilateral renal agenesis, Ectopic kidney, Cry... |
OMIM:616541 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
|
Congenital diaphragmatic hernia, Ectopic kidney, Deep philtrum, Vesicoureteral reflux, Micropenis... |
OMIM:617641 |
Stiff Skin Syndrome |
|
Lipodystrophy, Bicuspid aortic valve, Short stature, Elbow flexion contracture, Limited shoulder ... |
OMIM:184900 |
Oculocerebrocutaneous Syndrome |
|
Alopecia, Congenital hip dislocation, Congenital diaphragmatic hernia, Missing ribs, Aplasia/Hypo... |
ORPHA:1647 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Synophrys, Downturned corner... |
ORPHA:444077 |
Cowden Syndrome 6 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus e... |
OMIM:615109 |
Phace Association |
|
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... |
OMIM:606519 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Osteopenia, Congenital hip dislocation, Abnormal periodontium morphology, High palate, Atrial sep... |
ORPHA:480880 |
Cervical Vertebral Dysplasia |
|
Cervical vertebral dysplasia, Cervical vertebral facet hypoplasia, Anterior atlanto-occipital dis... |
OMIM:118005 |
Frontometaphyseal Dysplasia 1 |
|
Skeletal muscle atrophy, Selective tooth agenesis, Limited elbow movement, Absent frontal sinuses... |
OMIM:305620 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Abnormal clavicle morphology, Ventricular septal defect, Rhizomelia, Micrognathia, S... |
ORPHA:93267 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Omphalocele, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of ... |
ORPHA:2141 |
Kaufman Oculocerebrofacial Syndrome |
|
Smooth philtrum, Optic disc pallor, Thin upper lip vermilion, Congenital hip dislocation, Ventric... |
OMIM:244450 |
Diaphanospondylodysostosis |
|
Short neck, Missing ribs, Myelomeningocele, Short thorax, Cleft palate, Enlarged thorax, Multiple... |
ORPHA:66637 |
Congenital Tracheal Stenosis |
|
Polyhydramnios, Fetal ascites, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lun... |
ORPHA:141127 |
Craniofacial Dyssynostosis With Short Stature |
|
Hypospadias, Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, ... |
OMIM:218350 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Intestinal... |
OMIM:616201 |
Angiokeratoma Corporis Diffusum With Arteriovenous Fistulas |
|
Arteriovenous fistula |
OMIM:600419 |
Lethal Kniest-Like Dysplasia |
|
Anterior rib cupping, Edema, Short neck, Mesomelic/rhizomelic limb shortening, Wide anterior font... |
ORPHA:2347 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Polyhydramnios, Micrognathia, Flexion contracture, Low anterior hairline, Gast... |
OMIM:605039 |
Ulnar-Mammary Syndrome |
|
Abnormal clavicle morphology, Hypoplasia of penis, Aplasia of the pectoralis major muscle, Pectus... |
ORPHA:3138 |
Seckel Syndrome 8 |
|
Short stature, Micrognathia, Kyphoscoliosis, Ectopic kidney |
OMIM:615807 |
Igg4-Related Aortitis |
|
Low back pain, Intestinal obstruction, Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aort... |
ORPHA:449400 |
Odontoid Hypoplasia |
|
Hypoplasia of the odontoid process, Atlantoaxial instability, Cervical instability, Dystopic os o... |
OMIM:613628 |
Cowden Syndrome 1 |
|
Colonic diverticula, Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Kyphosis, Pectus e... |
OMIM:158350 |
Benign Schwannoma |
|
Intestinal polyposis, Facial palsy, Schwannoma, Peripheral schwannoma, Abnormality of the twelfth... |
ORPHA:252164 |
Cohen Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr... |
ORPHA:193 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Hypoplastic right heart, Short neck, Micrognathia, Anteriorly placed anus, Downturned corners of ... |
OMIM:616894 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Peters-Plus Syndrome |
|
Ureteral duplication, Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Short... |
OMIM:261540 |
Congenital Disorder Of Glycosylation, Type Iit |
|
Tented upper lip vermilion, Short stature, Urinary incontinence, Small hand, Pineal cyst, Short f... |
OMIM:618885 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Joint laxity, Short stature, Elbow dislocation, Pierre-Robin sequence, Advanced ossification of c... |
OMIM:620269 |
Beckwith-Wiedemann Syndrome |
|
Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Accel... |
ORPHA:116 |
Acrocallosal Syndrome |
|
Abnormal clavicle morphology, Inguinal hernia, Hypospadias, Congenital diaphragmatic hernia, Cryp... |
ORPHA:36 |
Proboscis Lateralis |
|
Orofacial cleft, Abnormality of the maxillary sinus, High palate, Holoprosencephaly, Chorioretina... |
ORPHA:141099 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217085 |
Fumarase Deficiency |
|
Reduced subcutaneous adipose tissue, Necrotizing enterocolitis, Increased urine succinate level, ... |
OMIM:606812 |
Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Polyhydra... |
OMIM:613406 |
Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Ectopic kidn... |
ORPHA:1519 |
Ulnar-Mammary Syndrome |
|
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Aplasia of the 3rd metacarpal, Aplasi... |
OMIM:181450 |
Ritscher-Schinzel Syndrome 2 |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Po... |
OMIM:300963 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Micrognathia, Abnormality of the gingiva, Renal cyst, A... |
ORPHA:798 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Pectus... |
ORPHA:192 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Short neck, M... |
OMIM:255800 |
13Q12.3 Microdeletion Syndrome |
|
Recurrent respiratory infections, Thin upper lip vermilion, Short stature, Kyphoscoliosis, Congen... |
ORPHA:412035 |
Diets-Jongmans Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Hypospadias, Ventricular septal defect, Short stature,... |
OMIM:618846 |
Mucopolysaccharidosis, Type Vi |
|
Flexion contracture, Pectus carinatum, Broad ribs, Anterior wedging of L1, Avascular necrosis, He... |
OMIM:253200 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Venous insufficiency, Hypoplasia of the maxilla, Abnormal form of the vertebral bod... |
ORPHA:1106 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Cervical kyphosis, Polyhydramnios, Micrognathia, Delayed... |
OMIM:114290 |
Peutz-Jeghers Syndrome |
|
Biliary tract neoplasm, Rectal prolapse, Gastrointestinal infarctions, Stomach cancer, Pancreatic... |
ORPHA:2869 |
Chondrodysplasia, Blomstrand Type |
|
Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Generalized osteosclerosis, Fetal ... |
OMIM:215045 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Anterior pituitary hypoplasia, Mi... |
OMIM:151050 |
Townes-Brocks Syndrome 1 |
|
Short metatarsal, Gastroesophageal reflux, Holoprosencephaly, Chorioretinal coloboma, Atrial sept... |
OMIM:107480 |
Thanatophoric Dysplasia Type 1 |
|
Short femur, Abnormality of the kidney, Polyhydramnios, Joint stiffness, Micromelia, Abnormal sac... |
ORPHA:1860 |
Cranioectodermal Dysplasia 1 |
|
Bicuspid aortic valve, High, narrow palate, Tubulointerstitial nephritis, Hepatic fibrosis, Narro... |
OMIM:218330 |
Tetrasomy 12P |
|
Delayed eruption of teeth, Thin upper lip vermilion, Short stature, Short neck, Abnormal soft pal... |
ORPHA:884 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Thickened ribs, Flexion contracture, Abnormal tricuspid valve morphology, Increased size of nasop... |
ORPHA:217093 |
Fetal Trimethadione Syndrome |
|
Hypospadias, Ventricular septal defect, Micrognathia, Synophrys, High palate, Transposition of th... |
ORPHA:1913 |
Mucopolysaccharidosis-Plus Syndrome |
|
Short neck, Synophrys, Flexion contracture, Low anterior hairline, Pectus carinatum, Leukopenia, ... |
OMIM:617303 |
1Q44 Microdeletion Syndrome |
|
Smooth philtrum, Prominent metopic ridge, Short stature, Intestinal malrotation, Exaggerated cupi... |
ORPHA:238769 |
Floating-Harbor Syndrome |
|
Enlarged joints, Short neck, Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia... |
ORPHA:2044 |
Diamond-Blackfan Anemia 20 |
|
Erythroid hypoplasia, Acetabular dysplasia, Total anomalous pulmonary venous return, Anemia |
OMIM:618313 |
Spondyloenchondrodysplasia |
|
Decreased response to growth hormone stimulation test, Pectus carinatum, Juvenile rheumatoid arth... |
ORPHA:1855 |
White Forelock With Malformations |
|
Aplasia/Hypoplasia of the distal phalanges of the toes, Poliosis, Prominent veins on trunk, White... |
OMIM:277740 |
Metatropic Dysplasia |
|
Enlarged joints, Flexion contracture, Long coccyx, Narrow chest, Flaring of rib cage, Anisospondy... |
OMIM:156530 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Low back pain, Mitral valve calcification, Coronary artery calcifi... |
OMIM:203500 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Congenital diaphragmatic hernia, Micrognathia, Epispadias, Agenesis of corpus callosum, Abnormali... |
ORPHA:2556 |
Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Iris coloboma, Highly arched eyebrow, Short thumb, Patent ductus arteri... |
ORPHA:2712 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Reduced systolic function, Facial palsy, Abnormal muscl... |
ORPHA:171881 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, High palate, Broad ribs, Short metacarpal, Lumbar hy... |
OMIM:608328 |
Wolcott-Rallison Syndrome |
|
Hepatomegaly, Renal insufficiency, Neonatal insulin-dependent diabetes mellitus, Short stature, J... |
ORPHA:1667 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Hyperphosphaturia, Abnormality of dental color, Short stature, Recurrent fractures, K... |
OMIM:163200 |
Transaldolase Deficiency |
|
Short neck, Deep philtrum, Synophrys, Hepatic fibrosis, Short philtrum, Atrial septal defect, Pat... |
OMIM:606003 |
Trisomy 12P |
|
Thick eyebrow, Short stature, Supernumerary nipple, Micrognathia, Short neck, Delayed skeletal ma... |
ORPHA:1699 |
Diaphanospondylodysostosis |
|
Absent in utero ossification of vertebral bodies, Nephrogenic rest, Short neck, Micrognathia, Nep... |
OMIM:608022 |
Neurodevelopmental Disorder With Feeding Difficulties, Thin Corpus Callosum, And Foot Deformity |
|
Hydrocephalus, Bicuspid aortic valve, Aortic valve stenosis |
OMIM:615599 |
Ssr4-Cdg |
|
Abnormality of the gastrointestinal tract, Joint dislocation, Abnormality of upper lip vermillion... |
ORPHA:370927 |
Diamond-Blackfan Anemia |
|
Radial artery aplasia, Pure red cell aplasia, Short neck, Micrognathia, Low anterior hairline, Re... |
ORPHA:124 |
X-Linked Intellectual Disability, Snyder Type |
|
Mandibular prognathia, Decreased muscle mass, Dental crowding, Ectopic kidney, Synophrys, Pectus ... |
ORPHA:3063 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Abnormality of the knee, Inguinal hernia, Congenital diaphragmatic hernia, Micrognathia, Crowded ... |
ORPHA:2063 |
Menkes Disease |
|
Micrognathia, Venous insufficiency, Intracranial hemorrhage, Narrow chest, Hernia, Sparse hair, W... |
ORPHA:565 |
Loeys-Dietz Syndrome 5 |
|
Decreased muscle mass, Tented upper lip vermilion, Osteoarthritis, Pectus carinatum, High palate,... |
OMIM:615582 |
Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum, Cleft palate, Cleft upper lip |
OMIM:614402 |
Noonan Syndrome With Multiple Lentigines |
|
Bundle branch block, Myocardial infarction, Pectus carinatum, Atrioventricular canal defect, Spin... |
ORPHA:500 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Hypothyroidism, Congenital, Nongoitrous, 5 |
|
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... |
OMIM:225250 |
Fanconi Anemia, Complementation Group B |
|
Aplastic anemia, Short neck, Abnormal lung lobation, Micropenis, Abnormal vertebral morphology, E... |
OMIM:300514 |
Martsolf Syndrome 1 |
|
Enlarged sylvian cistern, Thoracic scoliosis, Micrognathia, Hypoplasia of the maxilla, Low anteri... |
OMIM:212720 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Short stature, Recurrent fractures, Neoplasm of the parathyroid g... |
ORPHA:163634 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Micrognathia, Renal cyst, Coloboma, High palate, Gastroesophageal reflux, Vesicoureteral reflux, ... |
OMIM:616975 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Mandibular prognathia, Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Short s... |
ORPHA:2916 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Sparse scalp hair, Short stature, Muscular ventricular septal defect, Hydrocele testis, Notched p... |
OMIM:620062 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Cerebral vasculitis, Thrombocytopenia, Leukocytosis, Anterior open-bite malocclusion, Abnormal au... |
ORPHA:83601 |
Steinfeld Syndrome |
|
Absent gallbladder, Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Iris c... |
OMIM:184705 |
Cervical Vertebrae, Agenesis Of |
|
Cervical vertebral agenesis |
OMIM:214290 |
Hypothyroidism, Congenital, Nongoitrous, 2 |
|
Thyroid agenesis, Delayed skeletal maturation, Elevated circulating thyroid-stimulating hormone c... |
OMIM:218700 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Asplenia, Dextrocardia, Situs inversus totalis |
OMIM:618948 |
Focal Facial Dermal Dysplasia Type Iii |
|
Sparse lower eyelashes, Abnormality of the upper urinary tract, Highly arched eyebrow, Abnormal h... |
ORPHA:1807 |
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction |
|
Omphalocele, Thoracolumbar scoliosis, Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy ... |
OMIM:601389 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Short neck, Flexion contracture, Pectus carinatum, Leukopenia, Thoracic kyphosis, Hernia, Atrial ... |
ORPHA:505248 |
Faciocardiomelic Syndrome |
|
Osteopenia, Dysharmonic bone age, Micrognathia, Cuboid-shaped vertebral bodies, Dental malocclusi... |
OMIM:612731 |
Lowe-Kohn-Cohen Syndrome |
|
Nephropathy, Anorectal anomaly, Anal atresia |
ORPHA:2408 |
Familial Thyroid Dyshormonogenesis |
|
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, Fa... |
ORPHA:95716 |
Bilateral Perisylvian Polymicrogyria |
|
Ectopic posterior pituitary, Protruding tongue, Pectus excavatum, Micrognathia, Weakness of facia... |
ORPHA:98889 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Short palm, Thin upper lip vermilion, Gastrointestinal dysmotility, Synophrys, Downturned corners... |
ORPHA:466943 |
Bone Dysplasia, Lethal Holmgren Type |
|
Joint dislocation, Hepatomegaly, Recurrent respiratory infections, Rhizomelia, Micromelia, Short ... |
ORPHA:1842 |
Hypothyroidism, Congenital, Nongoitrous, 9 |
|
Inappropriately normal thyroid-stimulating hormone level, Short stature, Central hypothyroidism, ... |
OMIM:301035 |
Lujan-Fryns Syndrome |
|
Atrial septal defect, Dental crowding, Camptodactyly of finger, Micrognathia, Hypoplasia of the m... |
ORPHA:776 |
X-Linked Intellectual Disability, Sutherland-Haan Type |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Decreased testicular size, Anal ... |
ORPHA:93950 |
Brooke-Spiegler Syndrome |
|
Abnormal bleeding, Facial palsy, Salivary gland neoplasm, Abnormality of the sublingual glands, A... |
ORPHA:79493 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Brittle hair, Micrognathia, Cardiomegaly, Sparse hair, Progressive alveolar ridge hyp... |
OMIM:252500 |
Li-Campeau Syndrome |
|
Ventricular septal defect, Short stature, Cryptorchidism, Patent ductus arteriosus, Patent forame... |
OMIM:619189 |
Schisis Association |
|
Encephalocele, Omphalocele, Renal agenesis, Spina bifida, Congenital diaphragmatic hernia, Microm... |
ORPHA:63862 |
You-Hoover-Fong Syndrome |
|
Kyphoscoliosis, Accessory oral frenulum, Pectus excavatum, Cleft palate, Coarctation of aorta, Va... |
OMIM:616954 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Hydrops fetalis, Renal cyst, Dehydration, ... |
ORPHA:699 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Short palm, Agenesis of corpus callosum, Accessory spleen, Short stature, Elevated circulating lu... |
OMIM:618419 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Osteopenia, Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth horm... |
ORPHA:95494 |
Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Myopathy, Holoprosencephaly |
ORPHA:588 |
Cardiac Valvular Dysplasia, X-Linked |
|
Joint laxity, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Joint stiffne... |
OMIM:314400 |
Endocrine-Cerebroosteodysplasia |
|
Barrel-shaped chest, Natal tooth, Ventriculomegaly, Thick upper lip vermilion, Hypospadias, Bilat... |
OMIM:612651 |
Richieri Costa-Da Silva Syndrome |
|
Joint dislocation, Decreased muscle mass, Short stature, Diastasis recti, Kyphoscoliosis, Short n... |
ORPHA:3101 |
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii |
|
Abnormal cerebral vascular morphology, Micromelia, Microdontia, Atrial septal defect, Precocious ... |
ORPHA:2637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Optic nerve hypoplasia, Micrognathia, Cleft upper lip, Cryptorchidism, H... |
OMIM:236670 |
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Delayed skeletal maturation, Thick lower ... |
OMIM:608227 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Adrenal hypoplasia, Precocious atherosclero... |
ORPHA:230839 |
Hypophosphatasia, Infantile |
|
Polyhydramnios, Micromelia, Intracranial hemorrhage, Nephrocalcinosis, Unossified vertebral bodie... |
OMIM:241500 |
Noonan Syndrome 10 |
|
Short neck, Pectus carinatum, High palate, Atrial septal defect, Short stature, Sparse eyebrow, C... |
OMIM:616564 |
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy |
|
Prominent metopic ridge, Short stature, Fused cervical vertebrae, Short middle phalanx of finger,... |
OMIM:309620 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Severe short stature, Short neck, Missing ribs, Hemivertebrae, D... |
OMIM:122600 |
Hurler Syndrome |
|
Short neck, Flexion contracture, Hernia, Endocardial fibroelastosis, Microdontia, Hepatomegaly, S... |
OMIM:607014 |
Heart And Brain Malformation Syndrome |
|
Prominent metopic ridge, Ventricular septal defect, Camptodactyly of finger, Polyhydramnios, Wide... |
OMIM:616920 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Abnormality of the spleen, Hepatic fibrosis, Bacterial endocarditis, Ecchymosis, Papilledema, Hep... |
ORPHA:2072 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Limited elbow movement, Micrognathia, Flexion contracture, Rib osteolysis, Ather... |
OMIM:614008 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Joint dislocation, Genu recurvatum, Dental crowding, Hypermobility of distal interphalangeal join... |
ORPHA:230851 |
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome |
|
Hydrocephalus, Bicuspid aortic valve |
ORPHA:397951 |
7Q31 Microdeletion Syndrome |
|
Recurrent respiratory infections, Skeletal muscle atrophy, Torticollis, Hypoplasia of the maxilla... |
ORPHA:251061 |
Mosaic Trisomy 20 |
|
Micrognathia, Vertebral segmentation defect, Narrow chest, Limited pronation/supination of forear... |
ORPHA:1724 |
Gorlin Syndrome |
|
Mandibular prognathia, Vertebral fusion, Hypogonadotropic hypogonadism, Carious teeth, Cryptorchi... |
ORPHA:377 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Inguinal hernia, Block vertebrae, Short neck, Missing ribs, Hemivertebrae, Rib ... |
OMIM:271520 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Short stature, Micromelia, Short neck, Cardiomegaly, Postnatal growth retardation, Deep philtrum,... |
OMIM:613320 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Prominence of the premaxilla, Inguinal hernia, Congenital diaphragmatic hernia, Arterial tortuosi... |
OMIM:614437 |
Chromosome 13Q14 Deletion Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Supernumerary nipple, Micro... |
OMIM:613884 |
Holoprosencephaly 14 |
|
Ventriculomegaly, Median cleft lip, Ventricular septal defect, Cyclopia, Alobar holoprosencephaly... |
OMIM:619895 |
Mosaic Variegated Aneuploidy Syndrome 2 |
|
Aortic regurgitation, Ventricular septal defect, Decreased response to growth hormone stimulation... |
OMIM:614114 |
Shprintzen-Goldberg Syndrome |
|
Communicating hydrocephalus, Osteopenia, Micrognathia, Hypoplasia of the maxilla, High, narrow pa... |
ORPHA:2462 |
German Syndrome |
|
Abnormal eyebrow morphology, Short stature, Camptodactyly of finger, Micrognathia, Short neck, Cr... |
ORPHA:2077 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Severe short stature, Hypospadias, Highly arched eyebrow, Short thum... |
ORPHA:2319 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Micrognathia, Optic atrophy, Gingival overgrowth, Low anterior hairline, Short philtrum, Scoliosi... |
ORPHA:480898 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Pectus excavatum, Coarctation of aorta, Joint hyperf... |
ORPHA:261243 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Microretrognathia, Abnormal clavicle morphology, Hypospadias, Abnormality of the philtrum, Abnorm... |
ORPHA:276422 |
Microhydranencephaly, X-Linked |
|
Intrauterine growth retardation, Multiple joint contractures, Holoprosencephaly |
OMIM:306990 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Dental crowding, Micrognathia, Synophrys, Low anterior hairline, Oligodontia, High palate, Short ... |
OMIM:617061 |
Global Developmental Delay With Or Without Impaired Intellectual Development |
|
Thin upper lip vermilion, Hypospadias, Ventricular septal defect, Short stature, Pectus excavatum... |
OMIM:618330 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Thin upper lip vermilion, Short stature, Thoracolumbar scoliosis, Micrognathia, Short neck, Flexi... |
OMIM:616549 |
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly |
|
Polyhydramnios, Short neck, Micrognathia, Lymphedema, High palate, Narrow chest, Protein-losing e... |
OMIM:235255 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Bifid sternum, Supraumbilical raphe, Coarctation of aorta |
OMIM:140850 |
Fucosidosis |
|
Cardiomegaly, Anterior beaking of thoracic vertebrae, Flexion contracture, Vacuolated lymphocytes... |
OMIM:230000 |
Gillespie Syndrome |
|
Aniridia, Truncus arteriosus, Ventriculomegaly |
OMIM:206700 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Short neck, Micrognathia, Synophrys, High palate, Hernia, Agenes... |
ORPHA:261112 |
Ciliary Dyskinesia, Primary, 1 |
|
Communicating hydrocephalus, Pneumonia, Asplenia, Atelectasis, Absent frontal sinuses, Situs inve... |
OMIM:244400 |
Total Anomalous Pulmonary Venous Return 1 |
|
Recurrent respiratory infections, Dextrocardia, Total anomalous pulmonary venous return, Pulmonar... |
OMIM:106700 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Hypoplasia of penis, Synophrys, Conotruncal defect, Downturned corners of mouth, Vesicoureteral r... |
ORPHA:96147 |
Coffin-Siris Syndrome 12 |
|
Micrognathia, Synophrys, Low anterior hairline, High palate, Gastroesophageal reflux, Patent fora... |
OMIM:619325 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Vertebral hypoplasia, Lumbar kyphosis |
OMIM:192900 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Elbow contracture, Multiple pterygia, Short neck, Hemivertebrae, Pectus carinatum, Knee flexion c... |
OMIM:178110 |
Kbg Syndrome |
|
Short palm, Vertebral fusion, Tented upper lip vermilion, Short stature, Macrodontia, Short neck,... |
OMIM:148050 |
Cantú Syndrome |
|
Short neck, Cardiomegaly, Accelerated skeletal maturation, Low anterior hairline, Narrow chest, B... |
ORPHA:1517 |
8P Inverted Duplication/Deletion Syndrome |
|
Short neck, Micrognathia, High, narrow palate, Synophrys, Aplasia/Hypoplasia of the gallbladder, ... |
ORPHA:96092 |
1Q41Q42 Microdeletion Syndrome |
|
Hypergonadotropic hypogonadism, Short stature, Congenital diaphragmatic hernia, Cryptorchidism, H... |
ORPHA:250999 |
Lacrimoauriculodentodigital Syndrome |
|
Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary ... |
ORPHA:2363 |
Mccune-Albright Syndrome |
|
Accelerated skeletal maturation, Bone pain, Gastroesophageal reflux, Benign gastrointestinal trac... |
ORPHA:562 |
Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Renal insufficiency, Median cleft lip, Abnormal cerebral vascular morphology, Cleft palate, Holop... |
ORPHA:2165 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Patent foramen ovale, Calcification of the aorta, Co... |
OMIM:614823 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... |
OMIM:617205 |
Distal 7Q11.23 Microdeletion Syndrome |
|
Atrial septal defect, Patent ductus arteriosus |
ORPHA:254351 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s... |
ORPHA:99125 |
Cloacal Exstrophy |
|
Omphalocele, Hypoplasia of penis, Hydroureter, Intestinal malrotation, Spina bifida, Ectopic kidn... |
ORPHA:93929 |
Juvenile Polyposis Of Infancy |
|
Gastrointestinal hemorrhage, Refractory anemia, Abnormal bleeding, Short stature, High, narrow pa... |
ORPHA:79076 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Abnormality of the knee, Prominence of the premaxilla, Inguinal hernia, Congenital hip dislocatio... |
ORPHA:2412 |
Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Reduced left ventricular eject... |
OMIM:620203 |
Restrictive Dermopathy |
|
Osteopenia, Ureteral duplication, Multiple joint contractures, Polyhydramnios, Micrognathia, Atri... |
ORPHA:1662 |
Transaldolase Deficiency |
|
Abnormality of the kidney, Edema, Thrombocytopenia, Hydrops fetalis, Hepatosplenomegaly, Coarctat... |
ORPHA:101028 |
Hypothyroidism, Congenital, Nongoitrous, 1 |
|
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... |
OMIM:275200 |
Rhombencephalosynapsis |
|
Microretrognathia, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalu... |
ORPHA:59315 |
Pontine Tegmental Cap Dysplasia |
|
Facial palsy, Rib fusion, Hemivertebrae, Ankle clonus, Scoliosis, Dysphagia |
OMIM:614688 |
Axin2-Related Attenuated Familial Adenomatous Polyposis |
|
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Abnorm... |
ORPHA:401911 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Quadriceps muscle weakness, Ragged-red muscle fibers, Abnormality of the liver, Gastroesop... |
ORPHA:254892 |
Pycnodysostosis |
|
Obtuse angle of mandible, Abnormal clavicle morphology, Persistent open anterior fontanelle, Decr... |
ORPHA:763 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... |
OMIM:607155 |
3Q29 Microdeletion Syndrome |
|
Hypospadias, Dental crowding, Abnormality of the dentition, Pectus excavatum, Patent ductus arter... |
ORPHA:65286 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Limited elbow movement, Micrognathia, Increased intervertebral space, Polyhydramnios, T lymphocyt... |
ORPHA:508533 |
Kimura Disease |
|
Lymphadenopathy, Abnormal salivary gland morphology, Eosinophilia, Follicular hyperplasia |
ORPHA:482 |
Hurler Syndrome |
|
Abnormal clavicle morphology, Short neck, Hernia, Endocardial fibroelastosis, Abnormal nerve cond... |
ORPHA:93473 |
Spondyloepimetaphyseal Dysplasia, Shohat Type |
|
Joint laxity, Severe short stature, Hyperlordosis, Short neck, Delayed epiphyseal ossification, D... |
ORPHA:93352 |
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Ventricular septal defect, Short stature, Pulmonary artery stenosis, Abno... |
ORPHA:75389 |
Tricuspid Atresia |
|
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Hypoplasia of right ventri... |
ORPHA:1209 |
Wiedemann-Steiner Syndrome |
|
Elbow hypertrichosis, Micrognathia, Accelerated skeletal maturation, Synophrys, High palate, Atri... |
OMIM:605130 |
Floating-Harbor Syndrome |
|
Short neck, Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Down... |
OMIM:136140 |
Endosteal Hyperostosis, Worth Type |
|
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Facial palsy, General... |
ORPHA:2790 |
Anus, Imperforate |
|
Ectopic anus, Hypospadias, Anal atresia |
OMIM:301800 |
Odontochondrodysplasia |
|
Delayed eruption of teeth, Short stature, Micromelia, Patent ductus arteriosus, Joint hyperflexib... |
ORPHA:166272 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Scarring alopecia of scalp, Abnormal lung morphology, Flexion contracture, Neonatal epiphyseal st... |
ORPHA:35173 |
Cutis Laxa-Marfanoid Syndrome |
|
Abnormal heart valve morphology, Congenital diaphragmatic hernia, Flexion contracture, Hip disloc... |
ORPHA:171719 |
Braddock-Carey Syndrome 1 |
|
U-Shaped upper lip vermilion, Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ve... |
OMIM:619980 |
Kapur-Toriello Syndrome |
|
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Short neck, Cleft upp... |
OMIM:244300 |
Schwartz-Jampel Syndrome |
|
Skeletal muscle atrophy, Polyhydramnios, Short neck, Micrognathia, Micromelia, Low anterior hairl... |
ORPHA:800 |
Chromosome 10Q26 Deletion Syndrome |
|
Congenital hip dislocation, Short neck, Micrognathia, High palate, Atrial septal defect, Vesicour... |
OMIM:609625 |
Laterality Defects, Autosomal Dominant |
|
Asplenia, Situs inversus totalis |
OMIM:601086 |
Esophageal Atresia |
|
Maternal diabetes, Bronchitis, Polyhydramnios, Gastrointestinal dysmotility, Anorectal anomaly, C... |
ORPHA:1199 |
Microphthalmia, Syndromic 5 |
|
Joint laxity, Ectopic posterior pituitary, Short stature, Optic nerve hypoplasia, Cryptorchidism,... |
OMIM:610125 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Prominent metopic ridge, Facial hypotonia, Optic nerve hypoplasia, Unilateral re... |
ORPHA:457284 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Accelerated skeletal maturation, Heart block, Abnormal form of the verteb... |
ORPHA:175 |
Pyle Disease |
|
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Ab... |
OMIM:265900 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Short toe, Absent middle phalanx of the 3rd ... |
OMIM:615297 |
Lymphatic Malformation 6 |
|
Edema, Micrognathia, Facial edema, Lymphedema, Polyhydramnios, Periorbital edema, Gastroesophagea... |
OMIM:616843 |
Laubry-Pezzi Syndrome |
|
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Abnormal coronary artery morp... |
ORPHA:99094 |
Ganglioneuroma |
|
Gastrointestinal hemorrhage, Functional intestinal obstruction, Neoplasm of the adrenal gland, Ha... |
ORPHA:251992 |
Pseudoxanthoma Elasticum |
|
Abnormal cerebral vascular morphology, Nephrocalcinosis, Multiple lipomas, High palate, Hypothyro... |
ORPHA:758 |
Pulmonary Arteriovenous Malformation |
|
Abnormal bleeding, Liver abscess, Transient ischemic attack, Epistaxis, Myocardial infarction, He... |
ORPHA:2038 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Micrognathia, Short metatarsal, Narrow... |
OMIM:304120 |
Microphthalmia, Syndromic 1 |
|
Bicuspid aortic valve, Dental crowding, High, narrow palate, Rectal prolapse, Orofacial cleft, Hi... |
OMIM:309800 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:604292 |
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome |
|
Joint laxity, Short stature, Micrognathia, Cryptorchidism, Synophrys, Horseshoe kidney, Orofacial... |
ORPHA:502434 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Absent gallbladder, Thin upper lip vermilion, Hypospadias, Ventricular septa... |
OMIM:300712 |
Focal Facial Dermal Dysplasia 3, Setleis Type |
|
Low anterior hairline, Absent lower eyelashes, Sparse hair, Distichiasis, Thick upper lip vermili... |
OMIM:227260 |
Non-24-Hour Sleep-Wake Syndrome |
|
Abnormal pineal melatonin secretion |
ORPHA:73267 |
Diamond-Blackfan Anemia 11 |
|
Bilateral cleft palate, Hypoplasia of the ulna, Short stature, Bicuspid aortic valve, Unilateral ... |
OMIM:614900 |
Atelosteogenesis, Type Ii |
|
Lumbar hyperlordosis, Cervical kyphosis, Micromelia, Short neck, Increased intervertebral space, ... |
OMIM:256050 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type |
|
Joint laxity, Ventricular septal defect, Pectus excavatum, Cryptorchidism, Pectus carinatum, Aort... |
OMIM:301039 |
Lathosterolosis |
|
Bilobate gallbladder, Micrognathia, High palate, Thick upper lip vermilion, Increased mean platel... |
OMIM:607330 |
Tetraamelia Syndrome 1 |
|
Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Asplenia, Cleft upper lip, Hydroce... |
OMIM:273395 |
Opsismodysplasia |
|
Edema, Short neck, Polyhydramnios, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short ... |
OMIM:258480 |
Lower Limb Malformation-Hypospadias Syndrome |
|
Sacral dimple, Hypospadias, Short neck, Abnormality of the spleen, Abnormality of the ureter |
ORPHA:2487 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Mandibular prognathia, Synophrys, Abnormal form of the vertebral bodies, Pectus carinatum, Downtu... |
ORPHA:1327 |
Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Short stature, Anemia, Purpura |
ORPHA:3204 |
Johanson-Blizzard Syndrome |
|
Anteriorly placed anus, Downturned corners of mouth, Hepatic fibrosis, Atrial septal defect, Hypo... |
OMIM:243800 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Omphalocele, Intestinal malrotation, Congenital diaphragmatic hernia, Amelia, Abnormality of the ... |
OMIM:601163 |
Seckel Syndrome 2 |
|
Hypospadias, Short stature, Micrognathia, Ectopic kidney, Heart murmur, Growth delay, Microdontia... |
OMIM:606744 |
Perlman Syndrome |
|
Hepatomegaly, Hypoplasia of penis, Inguinal hernia, Femoral hernia, Micrognathia, Cryptorchidism,... |
ORPHA:2849 |
Gastrointestinal Defects And Immunodeficiency Syndrome 1 |
|
Ileal atresia, Polyhydramnios, Hypoplasia of the thymus, Leukocytosis, Hematochezia, Congenital p... |
OMIM:243150 |
Holoprosencephaly 11 |
|
Cleft lip, Synophrys, Cleft palate, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum, ... |
OMIM:614226 |
Dental Anomalies And Short Stature |
|
Mandibular prognathia, Short stature, Hypoplasia of the maxilla, Delayed skeletal maturation, Hyp... |
OMIM:601216 |
Tatton-Brown-Rahman Syndrome |
|
Atrial septal defect, Everted upper lip vermilion, Thick eyebrow, Ventricular septal defect, Opti... |
OMIM:615879 |
Marfan Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Dental crowding, Limited elbow movement, Micrognathia, High,... |
ORPHA:558 |
Ehlers-Danlos Syndrome, Classic Type, 1 |
|
Joint dislocation, Hyperextensibility of the finger joints, Inguinal hernia, Short stature, Joint... |
OMIM:130000 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Micropenis, Agenesis of corpus callosum, Hypoplasia of the ulna, Short sta... |
OMIM:613091 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Hypospadias, Micrognathia, Short neck, Cryptorchidism, Patent ductus arteriosus, Wide anterior fo... |
OMIM:217980 |
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies |
|
Thin upper lip vermilion, Sacral dimple, Ventricular septal defect, Down-sloping shoulders, Short... |
OMIM:617452 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Abnormal clavicle morphology, Hypospadias, Short stature, Abnormal dental morphology, Hyperlordos... |
ORPHA:2522 |
Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Ventriculomegaly, Polyhydramnios, Hydrocephalus, Holoprosencephaly, Hydranencephaly, Dandy-Walker... |
OMIM:617967 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Orofacial cleft, Holoprosencephaly, Chorioretinal coloboma |
OMIM:611638 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Inguinal hernia, Aganglionic megacolon, Hydronephrosis, Anal atresia |
OMIM:235760 |
Hartsfield Syndrome |
|
Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Ap... |
ORPHA:2117 |
Klippel-Feil Syndrome 2, Autosomal Recessive |
|
Ventricular septal defect, Short neck, Cleft upper lip, Cleft palate, Low posterior hairline, Fus... |
OMIM:214300 |
Stevenson-Carey Syndrome |
|
Recurrent urinary tract infections, Narrow mouth, Pierre-Robin sequence, Downturned corners of mo... |
OMIM:611961 |
Pulmonary Capillary Hemangiomatosis |
|
Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary hemangiom... |
ORPHA:199241 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Cardiomegaly, Adenoiditis, Synophrys, Flexion contracture, Atrioven... |
ORPHA:581 |
Noonan Syndrome 13 |
|
Micrognathia, Short neck, Lymphedema, Enlarged thorax, High palate, Gastroesophageal reflux, Wide... |
OMIM:619087 |
Contractures-Developmental Delay-Pierre Robin Syndrome |
|
Inguinal hernia, Hypospadias, Thoracolumbar scoliosis, Micrognathia, High, narrow palate, Short t... |
ORPHA:436003 |
Genitopatellar Syndrome |
|
Congenital hip dislocation, Polyhydramnios, Micrognathia, Knee flexion contracture, Anteriorly pl... |
OMIM:606170 |
Gabriele-De Vries Syndrome |
|
Facial hypotonia, Aortopulmonary collateral arteries, Micrognathia, Abnormality of the dentition,... |
OMIM:617557 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Ventral hernia, Omphalocele, Short stature, Bicuspid aortic valve, Cleft soft palate, Micrognathi... |
OMIM:618529 |
Ring Chromosome 7 Syndrome |
|
Mandibular prognathia, Low anterior hairline, Short philtrum, Holoprosencephaly, Median cleft pal... |
ORPHA:1449 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Low anterior hairline, Downturned corners of mouth, High palate, Atrial septal defect, Dandy-Walk... |
OMIM:220500 |
Congenital Rubella Syndrome |
|
Hepatomegaly, Atrial septal defect, Ventricular septal defect, Short stature, Splenomegaly, Paten... |
ORPHA:290 |
Marfanoid Habitus With Situs Inversus |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Aortic regurgitation, Genu recurv... |
OMIM:609008 |
Matthew-Wood Syndrome |
|
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal lung morphology, Renal hypoplasia, Apla... |
ORPHA:2470 |
Chromosome 5Q12 Deletion Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Short neck, Postnatal growth retardation,... |
OMIM:615668 |
Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Hydr... |
OMIM:614424 |
Slc35A2-Cdg |
|
Osteopenia, Short stature, Limb joint contracture, Camptodactyly of finger, Craniosynostosis, Pre... |
ORPHA:356961 |
Thoracoabdominal Syndrome |
|
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft ... |
OMIM:313850 |
Potocki-Lupski Syndrome |
|
Mandibular prognathia, Short stature, Dental crowding, Micrognathia, Oral-pharyngeal dysphagia, P... |
OMIM:610883 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Thin upper lip vermilion, Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Cryptorchi... |
OMIM:618929 |
15Q Overgrowth Syndrome |
|
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... |
ORPHA:314585 |
Microcephaly With Cervical Spine Fusion Anomalies |
|
Vertebral fusion, Short stature, Spinal instability |
OMIM:251250 |
Pseudoachondroplasia |
|
Limited hip extension, Distal joint laxity, Osteoarthritis, Delayed epiphyseal ossification, Gene... |
ORPHA:750 |
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7 |
|
Decreased muscle mass, Dental crowding, Decreased response to growth hormone stimulation test, Mi... |
ORPHA:96182 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
Dihydropyrimidinase Deficiency |
|
Growth delay, Uraciluria, Anal atresia |
OMIM:222748 |
Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
Cheilitis Glandularis |
|
Abnormal salivary gland morphology, Thick lower lip vermilion |
ORPHA:1221 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type |
|
Lumbar hyperlordosis, Decreased hip abduction, Disproportionate short-trunk short stature, Pectus... |
OMIM:609223 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Everted upper lip vermilion, Dilation of Virchow-Robin spaces, Camptodactyly of finger, Unilatera... |
OMIM:619951 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... |
OMIM:129900 |
Odontochondrodysplasia 1 |
|
Genu recurvatum, Micromelia, Pectus carinatum, Narrow chest, Nephronophthisis, Genu varum, Short ... |
OMIM:184260 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Telangiectasia of the skin, Short stature, Absent pubertal growth spurt, Congenital diaphragmatic... |
ORPHA:438134 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Hepatomegaly, Recurrent respiratory infections, Tented upper lip vermilion, Thick eyebrow, Delaye... |
OMIM:619383 |
Currarino Syndrome |
|
Absence of the sacrum, Recurrent urinary tract infections, Neurogenic bladder, Hemisacrum, Urinar... |
OMIM:176450 |
Branchiootorenal Syndrome 1 |
|
Branchial cyst, Renal malrotation, Branchial fistula, Congenital hip dislocation, Facial palsy, U... |
OMIM:113650 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Sideroblastic anemia, Diabetes mellitus, Ventricular septal defect, Short stature, Situs inversus... |
OMIM:249270 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Medial flaring of the eyebrow, Broad eyebrow, Ventricular septal defect, Short stature, Postnatal... |
OMIM:620113 |
Orofaciodigital Syndrome Xvii |
|
Prominent metopic ridge, Median cleft lip, Short stature, Short neck, Short middle phalanx of the... |
OMIM:617926 |
Distal Xq28 Microduplication Syndrome |
|
Short stature, Short lingual frenulum, Dental crowding, Predominantly lower limb lymphedema, Hypo... |
ORPHA:293939 |
8P11.2 Deletion Syndrome |
|
Hemolytic anemia, Hypoplasia of penis, Sacral dimple, Hypogonadotropic hypogonadism, Short statur... |
ORPHA:251066 |
Degcags Syndrome |
|
Osteopenia, Polyhydramnios, Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal h... |
OMIM:619488 |
Cardiofaciocutaneous Syndrome 1 |
|
Osteopenia, Hyperextensibility of the finger joints, Polyhydramnios, Short neck, Micrognathia, De... |
OMIM:115150 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Micrognathia, Absent eyebrow, Hypospadias, Abnormal dental enamel m... |
ORPHA:85199 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Joint laxity, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, Kyphos... |
OMIM:162300 |
Saul-Wilson Syndrome |
|
Prominent superficial veins, Short metacarpal, Short stature, Micrognathia, Pectus excavatum, Hyp... |
OMIM:618150 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short neck, Abnormal sternum mor... |
ORPHA:457395 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, Knee... |
OMIM:617402 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Facial hypertrichosis, Dental crowding, Palpebral edema, Kyphosco... |
ORPHA:397709 |
Isolated Right Ventricular Hypoplasia |
|
Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right ventricular fa... |
ORPHA:439 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Anteriorly placed anus, Right ventricular dilatation, High palate, Atrial se... |
OMIM:612863 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Eosinophilia, Kyphoscoliosis, Pectus excavatum, Disproportionate short stature, Platyspondyly, De... |
OMIM:617425 |
Smith-Magenis Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Synophrys, Abnormal form of the ... |
ORPHA:819 |
Netherton Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Short stature, Sparse eyelashes, Ectopic kid... |
ORPHA:634 |
Vissers-Bodmer Syndrome |
|
Intrauterine growth retardation, Short stature, Holoprosencephaly |
OMIM:619033 |
Bohring-Opitz Syndrome |
|
Joint dislocation, Micrognathia, Cardiomegaly, Synophrys, Coloboma, Congenital contracture, Agene... |
ORPHA:97297 |
Pituitary Stalk Interruption Syndrome |
|
Hypoplasia of penis, Ectopic posterior pituitary, Septo-optic dysplasia, Short stature, Adrenal h... |
ORPHA:95496 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Short neck, Micrognathia, Absent frontal sinuses, Synophrys, Renal cyst, High palate,... |
OMIM:102500 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... |
OMIM:602782 |
Coffin-Siris Syndrome 6 |
|
Wormian bones, Short stature, Kyphoscoliosis, Micrognathia, Pectus excavatum, High, narrow palate... |
OMIM:617808 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Osteopenia, Sclerotic foci of metaphyses of the elbow, Short neck, Kyphosis, Dispropor... |
OMIM:271530 |
Noonan Syndrome 4 |
|
Ureteral duplication, Polyhydramnios, Short neck, Abnormal sternum morphology, Atrial septal defe... |
OMIM:610733 |
Atrioventricular Septal Defect 4 |
|
Primum atrial septal defect |
OMIM:614430 |
Blomstrand Lethal Chondrodysplasia |
|
Polyhydramnios, Micrognathia, Accelerated skeletal maturation, Hydrops fetalis, Narrow chest, Neo... |
ORPHA:50945 |
Occipital Horn Syndrome |
|
Persistent open anterior fontanelle, Pectus carinatum, Coarse hair, High palate, Narrow chest, Br... |
OMIM:304150 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Hydrops fetalis, Pectus carinatum, Hepatic fibrosis, Narrow chest, Thoraci... |
OMIM:263520 |
Frontometaphyseal Dysplasia |
|
Limited elbow movement, Micrognathia, Short metatarsal, Oligodontia, Spina bifida occulta, Wrist ... |
ORPHA:1826 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
|
Emphysema, Hip dislocation, Congenital diaphragmatic hernia, Abnormal heart morphology |
OMIM:614100 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Kniest Dysplasia |
|
Arthropathy, Enlarged joints, Short neck, Aplasia/hypoplasia of the extremities, Delayed epiphyse... |
ORPHA:485 |
Cerebellar-Facial-Dental Syndrome |
|
Short neck, Micrognathia, Sparse hair, Abnormal T-wave, Sparse eyebrow, Cryptorchidism, Delayed s... |
ORPHA:444072 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperextensibility of the finger joints, Scapular winging, L... |
OMIM:616914 |
Alg9-Cdg |
|
Villous atrophy, Short neck, Micrognathia, Abnormal lung lobation, Hydrops fetalis, Right ventric... |
ORPHA:79328 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Holoprosencephaly, ... |
OMIM:610828 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Severe short stature, Enlarged joints, ... |
OMIM:313420 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Delayed epiphyseal ossification, Elevated circulating thyroid-stimulating hormone concentration, ... |
ORPHA:226313 |
Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Micrognathia, High, narrow palate, Abnormal form of the vertebral bo... |
ORPHA:2789 |
Hypermobile Ehlers-Danlos Syndrome |
|
Joint dislocation, Venous insufficiency, Gastrointestinal dysmotility, Anorectal anomaly, Osteoar... |
ORPHA:285 |
Kaposiform Lymphangiomatosis |
|
Epidural hemorrhage, Abnormal lung morphology, Abnormal form of the vertebral bodies, Ecchymosis,... |
ORPHA:464329 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Osteopenia, Short stature, Kyphoscoliosis, Polyhydramnios, Patent ductus arteriosus, Hip dislocat... |
OMIM:618005 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
Broad jaw, Bicuspid aortic valve, Exaggerated cupid's bow, Micrognathia, Wide mouth, Macroglossia... |
OMIM:614501 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Osteopenia, Tented upper lip vermilion, Micrognathia, High, narrow palate, Abnormal lung lobation... |
ORPHA:369837 |
Occipital Horn Syndrome |
|
Osteopenia, Venous insufficiency, High, narrow palate, Pectus carinatum, Coarse hair, Gastroesoph... |
ORPHA:198 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Abnormal salivary gland morphology |
ORPHA:3225 |
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, High palate, Narrow chest, Protein-losing enteropathy, ... |
ORPHA:1655 |
Keratoconus Posticus Circumscriptus |
|
Limited elbow extension and supination, Recurrent urinary tract infections, Short neck, Cleft upp... |
OMIM:244600 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Secundum atrial septal defect, Oral ulcer, Pectus carinatum, Leukopenia, Hypoplasia of the thymus... |
OMIM:612541 |
Oculocerebrorenal Syndrome Of Lowe |
|
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... |
ORPHA:534 |
Intrahepatic Cholestasis Of Pregnancy |
|
Abnormality of the pancreas, Jaundice, Abnormal pineal melatonin secretion, Cholecystitis, Ascite... |
ORPHA:69665 |
Neutral Lipid Storage Myopathy |
|
Hepatomegaly, Diabetes mellitus, Short stature, Chronic pancreatitis, Hand muscle weakness, Fatty... |
ORPHA:98908 |
Noonan Syndrome 8 |
|
Curly hair, Ventricular septal defect, Short stature, Polyhydramnios, Short neck, Cryptorchidism,... |
OMIM:615355 |
Sotos Syndrome |
|
Ureteral duplication, Accelerated skeletal maturation, No permanent dentition, Flexion contractur... |
ORPHA:821 |
Glomuvenous Malformation |
|
Abnormal renal morphology, Oral mucosa nodule, Gastrointestinal arteriovenous malformation, Arter... |
ORPHA:83454 |
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects |
|
Mandibular prognathia, Osteopenia, Dental crowding, Pectus carinatum, Knee dislocation, High pala... |
OMIM:620083 |
Premature Aging Syndrome, Penttinen Type |
|
Micrognathia, Hypoplasia of the maxilla, Hyperextensibility of the knee, Elevated circulating thy... |
OMIM:601812 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Stiff neck, Short stature, Kyphoscoliosis, Joint stiffness, Trismus, Vertebral wedging, Platyspon... |
OMIM:616583 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Limited elbow extension, Holoprosencephaly |
OMIM:300706 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, S... |
ORPHA:457193 |
Salivary Gland Adenoma, Pleomorphic |
|
Salivary gland neoplasm |
OMIM:181030 |
19P13.12 Microdeletion Syndrome |
|
Short neck, Synophrys, Short palm, Atrial septal defect, Hepatic steatosis, Hypothyroidism, Gener... |
ORPHA:254346 |
Lambotte Syndrome |
|
Ventricular septal defect, Narrow mouth, Intrauterine growth retardation, Retrognathia, Semilobar... |
OMIM:245552 |
Suleiman-El-Hattab Syndrome |
|
Synophrys, Downturned corners of mouth, High palate, Atrial septal defect, Frontal hirsutism, Pat... |
OMIM:618950 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Severe short stature, Ovoid vertebral bodies, Enlargement of the costochondral junction, Flat ace... |
OMIM:609052 |
Alagille Syndrome 1 |
|
Multiple small medullary renal cysts, Hemivertebrae, Papillary thyroid carcinoma, Vesicoureteral ... |
OMIM:118450 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Microcephaly-Capillary Malformation Syndrome |
|
Atrial septal defect, Ventricular septal defect, Short stature, Hypoplasia of the maxilla, Abnorm... |
OMIM:614261 |
Sarcoidosis, Susceptibility To, 1 |
|
Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Optic neuropathy, Pericardial effusion, ... |
OMIM:181000 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
C Syndrome |
|
Joint dislocation, Congenital diaphragmatic hernia, Short neck, Micrognathia, Polyhydramnios, Mic... |
ORPHA:1308 |
Blepharocheilodontic Syndrome 1 |
|
Cleft upper lip, Conical tooth, Neural tube defect, Hypodontia, Sparse hair, High anterior hairli... |
OMIM:119580 |
Khan-Khan-Katsanis Syndrome |
|
Ureteral duplication, Tented upper lip vermilion, Micrognathia, Renal cyst, Bilateral superior ve... |
OMIM:618460 |
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome |
|
Microretrognathia, Short stature, Camptodactyly of finger, Short neck, Abnormality of the dentiti... |
ORPHA:2994 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Short 3rd toe, Dysplastic corpus callosum, Muscular ventricular septal defect, Short th... |
OMIM:618569 |
Orofaciodigital Syndrome Type 4 |
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Joint dislocation, Abnormal oral mucosa morphology, Micromelia, Micrognathia, High, narrow palate... |
ORPHA:2753 |
Cerebrofacioarticular Syndrome |
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Osteopenia, Irregular dentition, Anal stenosis, Hypospadias, Short stature, Micrognathia, Hypopla... |
ORPHA:314679 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Hepatomegaly, Median cleft lip, Short stature, Accessory oral frenulum, Polyhydramnios, Splenomeg... |
OMIM:617088 |
Marden-Walker Syndrome |
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Skeletal muscle atrophy, Micrognathia, Epispadias, Abnormal form of the vertebral bodies, Pectus ... |
ORPHA:2461 |
Atelosteogenesis Type I |
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Joint dislocation, Short femur, Rhizomelia, Polyhydramnios, Micrognathia, Malrotation of colon, A... |
ORPHA:1190 |
Mosaic Variegated Aneuploidy Syndrome 1 |
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Short neck, Micrognathia, Renal cyst, Atrial septal defect, Micropenis, Agenesis of corpus callos... |
OMIM:257300 |
Cranioectodermal Dysplasia 2 |
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Cholangitis, Polyhydramnios, Short neck, Micrognathia, Hydrops fetalis, Renal cyst, Fused teeth, ... |
OMIM:613610 |
Aarskog-Scott Syndrome |
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Hyperextensibility of the finger joints, Short neck, Bilateral cryptorchidism, Hypoplasia of the ... |
OMIM:305400 |
Hereditary Continuous Muscle Fiber Activity |
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Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Atypical Werner Syndrome |
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Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Micrognat... |
ORPHA:79474 |
Mucopolysaccharidosis Type 2 |
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Communicating hydrocephalus, Irregularity of vertebral bodies, Abnormal tricuspid valve morpholog... |
ORPHA:580 |
Stickler Syndrome Type 1 |
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Hypoplasia of the maxilla, Osteoarthritis, Cleft palate, Mitral valve prolapse, Joint hyperflexib... |
ORPHA:90653 |
Humero-Radio-Ulnar Synostosis |
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Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormality of the urete... |
ORPHA:3266 |
Igg4-Related Ophthalmic Disease |
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Sinusitis, Cholangitis, Abnormality of infra-orbital nerve, Periorbital edema, Abnormal lung morp... |
ORPHA:449563 |
Holoprosencephaly 9 |
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Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Hypoplasia ... |
OMIM:610829 |
Pediatric-Onset Graves Disease |
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Hepatomegaly, Atrial fibrillation, Craniosynostosis, Accelerated skeletal maturation, Puberty and... |
ORPHA:525731 |
Noonan Syndrome 1 |
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Amegakaryocytic thrombocytopenia, Short neck, Micrognathia, High, narrow palate, Lymphedema, Abno... |
OMIM:163950 |
2Q31.1 Microdeletion Syndrome |
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Short neck, Micrognathia, Deep philtrum, Synophrys, Low anterior hairline, Downturned corners of ... |
ORPHA:251014 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
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Thin upper lip vermilion, Inguinal hernia, Joint hypermobility, Supernumerary nipple, Micrognathi... |
OMIM:619243 |
Phocomelia, Schinzel Type |
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Hypoplasia of penis, Micromelia, Short neck, Micrognathia, Cryptorchidism, High, narrow palate, M... |
ORPHA:2879 |
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome |
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Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... |
ORPHA:251380 |
Generalized Arterial Calcification Of Infancy |
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Medial calcification of large arteries, Adrenal calcification, Edema, Cardiomegaly, Polyhydramnio... |
ORPHA:51608 |
Brachyolmia, Maroteaux Type |
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Short stature, Pectus excavatum, Short thorax, Abnormal form of the vertebral bodies, Platyspondy... |
ORPHA:93302 |
Asplenia, Isolated Congenital |
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Asplenia, Thrombocytosis, Howell-Jolly bodies |
OMIM:271400 |
Genitourinary And/Or Brain Malformation Syndrome |
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Omphalocele, Streak ovary, Hypospadias, Jejunal atresia, Kyphoscoliosis, Micrognathia, Ileal atre... |
OMIM:618820 |
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies |
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Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Wide anterior fon... |
ORPHA:95715 |
Mucopolysaccharidosis Type 4 |
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Joint dislocation, Short neck, Pectus carinatum, Reduced bone mineral density, Hernia, Short stat... |
ORPHA:582 |
Congenital Heart Defects, Multiple Types, 4 |
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Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
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Short neck, Cryptorchidism, Wide mouth, Macroglossia, Coloboma, Everted lower lip vermilion, Tran... |
OMIM:616789 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
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Tachycardia, Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion ... |
OMIM:613870 |
Costello Syndrome |
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Hyperextensibility of the finger joints, Limited elbow movement, Short neck, Micrognathia, Polyhy... |
OMIM:218040 |
Myhre Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Short palm, Bifid uvula, Abnormal p... |
ORPHA:2588 |
Bardet-Biedl Syndrome 19 |
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Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... |
OMIM:615996 |
Mend Syndrome |
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Microretrognathia, Smooth philtrum, Sacral dimple, Short stature, Micrognathia, Cryptorchidism, H... |
OMIM:300960 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
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Optic disc pallor, Skeletal muscle atrophy, Short stature, Anterior rib cupping, Kyphoscoliosis, ... |
OMIM:300232 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
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Mandibular prognathia, Osteopenia, Congenital hip dislocation, Decreased response to growth hormo... |
OMIM:616007 |
Atelosteogenesis Type Ii |
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Cervical kyphosis, Polyhydramnios, Micrognathia, Short neck, Micromelia, Narrow chest, Hypoplasti... |
ORPHA:56304 |
Cartilage-Hair Hypoplasia |
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Fair hair, Sparse facial hair, Narrow chest, Neutropenia, Sparse hair, Short palm, Neonatal short... |
OMIM:250250 |
Coffin-Siris Syndrome 4 |
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Short philtrum, Atrial septal defect, Pulmonary artery atresia, Agenesis of corpus callosum, Dand... |
OMIM:614609 |
Cebalid Syndrome |
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Highly arched eyebrow, Thick eyebrow, High palate, Congenital diaphragmatic hernia |
OMIM:618774 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
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Osteopenia, Short humerus, Inguinal hernia, Rhizomelia, Optic nerve hypoplasia, Micrognathia, Sub... |
OMIM:222765 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
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Osteopenia, Diaphragmatic eventration, Contracture of the proximal interphalangeal joint of the 2... |
OMIM:612394 |
Kawasaki Disease |
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Abnormality of nail color, Edema, Sterile pyuria, Cholecystitis, Recurrent pharyngitis, Leukocyto... |
ORPHA:2331 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
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Osteopenia, Joint laxity, Short stature, Kyphoscoliosis, Pectus excavatum, Long upper lip, Hip di... |
OMIM:615349 |
Giant Axonal Neuropathy |
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Facial palsy, Abnormal pituitary gland morphology, Genu valgum, Diffuse axonal swelling, Scoliosi... |
ORPHA:643 |
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods |
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Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... |
OMIM:606842 |
Cdags Syndrome |
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Sparse scalp hair, Hypospadias, Delayed cranial suture closure, Sagittal craniosynostosis, Sparse... |
OMIM:603116 |
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome |
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Thin upper lip vermilion, Sacral dimple, Hyperextensibility of the finger joints, Ventricular sep... |
ORPHA:505237 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
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Increased bone mineral density, Ovoid vertebral bodies, Short neck, Micrognathia, Wide anterior f... |
ORPHA:163649 |
Beta-Mercaptolactate Cysteine Disulfiduria |
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Short stature, Micromelia, Abnormality of the ureter, Genu valgum, Joint hyperflexibility, High p... |
ORPHA:1035 |
Intellectual Developmental Disorder, Autosomal Dominant 66 |
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Pectus excavatum, Secundum atrial septal defect, Pectus carinatum, Aortic root aneurysm, Transpos... |
OMIM:619910 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
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Tented upper lip vermilion, Pectus carinatum, High palate, Gastroesophageal reflux, Short philtru... |
OMIM:616449 |
20P12.3 Microdeletion Syndrome |
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Wolff-Parkinson-White syndrome, Short stature, Hypoplasia of the maxilla, Narrow mouth, Pectus ca... |
ORPHA:261295 |
Cardiomyopathy, Dilated, 2D |
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Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def... |
OMIM:619371 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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Absent gallbladder, Thin upper lip vermilion, Hyperextensibility of the finger joints, Hypospadia... |
ORPHA:163979 |
Neurogenic Thoracic Outlet Syndrome |
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Abnormal rib morphology |
ORPHA:100073 |
Diphallia |
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Ureteral duplication, Epispadias, Hemivertebrae, Atrial septal defect, Duplicated colon, Bladder ... |
ORPHA:227 |
Noonan Syndrome 9 |
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Curly hair, Hydroureter, Ventricular septal defect, Short stature, Short neck, Sparse eyebrow, Cr... |
OMIM:616559 |
Zimmermann-Laband Syndrome 1 |
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Mandibular prognathia, Hyperextensibility of the finger joints, Synophrys, Low anterior hairline,... |
OMIM:135500 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
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Hepatic steatosis, Inguinal hernia, Brittle hair, Dental crowding, Kyphoscoliosis, Myocardial inf... |
OMIM:236200 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
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Diabetes mellitus, Ventricular septal defect, Short stature, Cardiac arrest, Megaloblastic anemia... |
ORPHA:49827 |
Anus, Imperforate |
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Anal atresia |
OMIM:207500 |
Craniosynostosis 4 |
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Ectopic posterior pituitary, Optic nerve hypoplasia, Sagittal craniosynostosis, Pansynostosis, La... |
OMIM:600775 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
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Dental crowding, Polyhydramnios, Short neck, Rectal prolapse, Short metatarsal, High palate, Gast... |
OMIM:617157 |
Anauxetic Dysplasia 1 |
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Mandibular prognathia, Short neck, Thoracic kyphosis, Short palm, Microdontia, Barrel-shaped ches... |
OMIM:607095 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
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Duplicated collecting system, Microretrognathia, Hip contracture, Joint laxity, Short stature, Ky... |
ORPHA:488642 |
Yunis-Varon Syndrome |
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Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Micrognathia, Ca... |
ORPHA:3472 |
Aspergillosis |
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Sinusitis, Osteomyelitis, Abnormality of the kidney, Pneumonia, Eosinophilia, Hypersensitivity pn... |
ORPHA:1163 |
Congenital Tufting Enteropathy |
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Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... |
ORPHA:92050 |
Alpha-Mannosidosis, Infantile Form |
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Communicating hydrocephalus, Mandibular prognathia, Osteopenia, Thickened ribs, Short neck, Oligo... |
ORPHA:309282 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
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Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Gastroes... |
ORPHA:17 |
Progeroid Short Stature With Pigmented Nevi |
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Irregular dentition, Thoracic scoliosis, Diabetes mellitus, Hypospadias, Bicuspid aortic valve, S... |
OMIM:176690 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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Impaired lymphocyte transformation with phytohemagglutinin, Nonimmune hydrops fetalis, Pericardia... |
OMIM:619313 |
Atelis Syndrome 1 |
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Ventricular septal defect, Carious teeth, Thrombocytopenia, Bronchiectasis, Lumbar kyphosis, Leuk... |
OMIM:620184 |
Van Esch-O'Driscoll Syndrome |
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Sacral dimple, Hypogonadotropic hypogonadism, Ventricular septal defect, Short stature, Esophagea... |
OMIM:301030 |
Thyroid Dyshormonogenesis 1 |
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Growth delay, Macroglossia, Umbilical hernia, Hypothyroidism, Goiter |
OMIM:274400 |
Fanconi Anemia, Complementation Group A |
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Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Short... |
OMIM:227650 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Congenital muscular torticollis, Abnormality of the kidney, Unilateral renal agenesis, Short neck... |
OMIM:118100 |
Achondrogenesis Type 1B |
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Severe short stature, Femoral hernia, Polyhydramnios, Micrognathia, Short neck, Abnormal enchondr... |
ORPHA:93298 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
3Mc Syndrome 1 |
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Conjunctival telangiectasia, Dental crowding, Synophrys, Atrial septal defect, Spina bifida occul... |
OMIM:257920 |
Cardiofaciocutaneous Syndrome |
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Brittle hair, Short neck, Lymphedema, High palate, Atrial septal defect, Sparse hair, Dystrophic ... |
ORPHA:1340 |
Holoprosencephaly 2 |
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Median cleft lip and palate, Aplasia of the premaxilla, Cyclopia, Adrenal hypoplasia, Alobar holo... |
OMIM:157170 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
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Hypoplasia of penis, Micromelia, Micrognathia, Hydrops fetalis, Renal cyst, Narrow chest, Absent ... |
ORPHA:93271 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
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Mandibular prognathia, Ventricular septal defect, Highly arched eyebrow, Aplasia/Hypoplasia of th... |
ORPHA:94066 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
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Short stature, Hypoplasia of the maxilla, Short middle phalanx of the 2nd finger, Multiple small ... |
OMIM:156510 |
Chromosome 16P13.3 Duplication Syndrome |
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Tented upper lip vermilion, Short neck, Micrognathia, Synophrys, Low anterior hairline, Atrial se... |
OMIM:613458 |
Osteogenesis Imperfecta, Type Xiii |
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Skeletal muscle atrophy, Enuresis nocturna, Pectus carinatum, Enlarged thorax, Reduced bone miner... |
OMIM:614856 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
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Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Optic atrophy, Abnormal for... |
ORPHA:93262 |
Aredyld Syndrome |
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Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Short stature, Abnormal dental en... |
ORPHA:1133 |
Ellis Van Creveld Syndrome |
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Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Narrow chest, Atrial se... |
ORPHA:289 |
Tick-Borne Encephalitis |
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Back pain, Skeletal muscle atrophy, Stiff neck, Facial palsy, Leukocytosis, Abnormal glossopharyn... |
ORPHA:297 |
Fanconi Anemia, Complementation Group U |
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Ectopic kidney, Absent radius, Absent thumb, Patent ductus arteriosus, Hypoplasia of the radius, ... |
OMIM:617247 |
Schizophrenia 1 |
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Partially duplicated kidney, Renal agenesis, Short stature, Ectopic kidney, Short proximal phalan... |
OMIM:181510 |
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome |
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Smooth philtrum, Dental crowding, Joint hypermobility, Micrognathia, Vascular dilatation, Bruisin... |
OMIM:618343 |
Andersen-Tawil Syndrome |
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Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Oligodonti... |
ORPHA:37553 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
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Posterior fusion of lumbosacral vertebrae |
OMIM:192800 |
Greenberg Dysplasia |
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Abnormal leukocyte morphology, Abnormally ossified vertebrae, Rhizomelia, Micromelia, Micrognathi... |
ORPHA:1426 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
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Holoprosencephaly |
ORPHA:2523 |
Fanconi Anemia, Complementation Group E |
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Duplicated collecting system, Pancytopenia, Renal agenesis, Hypergonadotropic hypogonadism, Short... |
OMIM:600901 |
Non-Syndromic Posterior Hypospadias |
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Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Ventral shorte... |
ORPHA:95706 |
3M Syndrome |
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Congenital hip dislocation, Abnormal cerebral vascular morphology, Short neck, Micromelia, Increa... |
ORPHA:2616 |
Oculoauriculovertebral Spectrum With Radial Defects |
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Aplasia/Hypoplasia of the thumb, Short stature, Maternal diabetes, Distal urethral duplication, R... |
ORPHA:2549 |
Anaplastic Thyroid Carcinoma |
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Tracheoesophageal fistula, Abnormal skeletal muscle morphology, Neoplasm of the lung, Lymphadenop... |
ORPHA:142 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
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Hypoplasia of penis, Ventricular septal defect, Recurrent fractures, Micromelia, Cryptorchidism, ... |
ORPHA:2772 |
Spondylo-Ocular Syndrome |
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Abnormal eyebrow morphology, Abnormal intervertebral disk morphology, Ventricular septal defect, ... |
ORPHA:85194 |
Opsismodysplasia |
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Hepatomegaly, Abnormally ossified vertebrae, Recurrent respiratory infections, Severe short statu... |
ORPHA:2746 |
Mesoaxial Hexadactyly And Cardiac Malformation |
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Torticollis, Short stature, Ventricular septal defect, Patent ductus arteriosus, Everted lower li... |
OMIM:249670 |
Abruzzo-Erickson Syndrome |
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Hypospadias, Short stature, Coronal hypospadias, Cryptorchidism, Short toe, Cleft palate, Abnorma... |
ORPHA:921 |
H Syndrome |
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Microcytic anemia, Hernia, Micropenis, Alopecia, Short stature, Abnormality of the kidney, Cleft ... |
ORPHA:168569 |
Congenital Anomalies Of Kidney And Urinary Tract 3 |
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Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr... |
OMIM:618270 |
Weill-Marchesani Syndrome 1 |
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Lumbar hyperlordosis, Ventricular septal defect, Short stature, Proportionate short stature, Join... |
OMIM:277600 |
Multiple Sulfatase Deficiency |
|
Hepatomegaly, Short stature, Periorbital edema, Splenomegaly, Hydrocephalus, Hypoplastic vertebra... |
OMIM:272200 |
Mucopolysaccharidosis, Type X |
|
Spatulate ribs, Posterior scalloping of vertebral bodies, Widely spaced teeth, Broad ribs, Thicke... |
OMIM:619698 |
Hypomandibular Faciocranial Dysostosis |
|
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Optic disc colobo... |
OMIM:241310 |
Spinal Muscular Atrophy, Type I |
|
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Proximal am... |
OMIM:253300 |
Spondyloepimetaphyseal Dysplasia, Handigodu Type |
|
Hip contracture, Abnormality of the knee, Lumbar hyperlordosis, Abnormal intervertebral disk morp... |
ORPHA:99642 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Lamb-Shaffer Syndrome |
|
Mild postnatal growth retardation, Micrognathia, Optic atrophy, Fused cervical vertebrae, Thoraci... |
ORPHA:530983 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Dry hair, Mild postnatal growth retardation, Flexion contracture, Premat... |
ORPHA:90324 |
Beaulieu-Boycott-Innes Syndrome |
|
Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn... |
OMIM:613680 |
Melnick-Needles Syndrome |
|
Micrognathia, Narrow chest, Vesicoureteral reflux, Anisospondyly, Short stature, Short thorax, Ab... |
ORPHA:2484 |
Oculoskeletodental Syndrome |
|
Low anterior hairline, Abnormal sternum morphology, Oligodontia, Thoracic kyphosis, Protein-losin... |
OMIM:618440 |
Autosomal Dominant Brachyolmia |
|
Short stature, Kyphoscoliosis, Increased vertebral height, Short thorax, Platyspondyly |
ORPHA:93304 |
Meier-Gorlin Syndrome 1 |
|
Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle hook, Flat glenoid fos... |
OMIM:224690 |
Schneckenbecken Dysplasia |
|
Polyhydramnios, Short neck, Lateral clavicle hook, Narrow chest, Nonimmune hydrops fetalis, Flat ... |
OMIM:269250 |
Catel-Manzke Syndrome |
|
Joint dislocation, Short neck, Micrognathia, Pectus carinatum, Glossoptosis, High palate, Bifid u... |
OMIM:616145 |
Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Natal tooth, Thin upper lip vermilion, Ventricular septal defect, Short stature, Sag... |
OMIM:145420 |
Intellectual Developmental Disorder, X-Linked 99 |
|
Hypospadias, Ectopic kidney, Joint hyperflexibility, Gastroesophageal reflux, Tracheomalacia, Int... |
OMIM:300919 |
Diamond-Blackfan Anemia 6 |
|
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Micrognath... |
OMIM:612561 |
Turnpenny-Fry Syndrome |
|
Mandibular prognathia, Dental crowding, Polyhydramnios, Pectus carinatum, Downturned corners of m... |
OMIM:618371 |
Maxillonasal Dysplasia |
|
Mandibular prognathia, Aplasia/Hypoplasia of the distal phalanges of the toes, Hypoplasia of the ... |
ORPHA:1248 |
8Q12 Microduplication Syndrome |
|
Atrial septal defect, Ventricular septal defect, Highly arched eyebrow, Short foot, Long philtrum... |
ORPHA:228399 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology, Short stature |
ORPHA:2435 |
Crouzon Syndrome |
|
Hypoplasia of the maxilla, Hydrocephalus, Abnormal sacrum morphology, Optic atrophy, Narrow palat... |
ORPHA:207 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Unilateral renal agenesis, Short neck, Micrognathia, Esophageal atresia, Hydr... |
OMIM:614083 |
Apert Syndrome |
|
Mandibular prognathia, Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Micromelia, Hy... |
ORPHA:87 |
Lethal Hemolytic Anemia-Genital Anomalies Syndrome |
|
Hypoplasia of penis, Hypospadias, Polyhydramnios, Micrognathia, Renal hypoplasia/aplasia, Splenom... |
ORPHA:1046 |
Grange Syndrome |
|
Bicuspid aortic valve, Recurrent fractures, Carotid artery stenosis, Renovascular hypertension, I... |
OMIM:602531 |
Secondary Short Bowel Syndrome |
|
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Fraser Syndrome 2 |
|
Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Short neck, Short thorax, Rect... |
OMIM:617666 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Increased intervertebral space, Thoracic platyspondyly, Patent ductus arteriosus, Narrow chest, S... |
OMIM:618961 |
Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Short femur, Renal agenesis, Short stature, Hamartoma of tongue, Micrognathia, ... |
OMIM:277170 |
Spondyloepiphyseal Dysplasia Tarda, Kohn Type |
|
Abnormality of the knee, Short stature, Restricted large joint movement, Disproportionate short-t... |
ORPHA:163665 |
Van Maldergem Syndrome 2 |
|
Osteopenia, Irregular dentition, Short fourth metatarsal, Tented upper lip vermilion, Micrognathi... |
OMIM:615546 |
Pde4D Haploinsufficiency Syndrome |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Accelerated skeletal maturation, ... |
ORPHA:439822 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Micromelia, Flexion contracture, Knee flexion contracture, Smooth tongue, Hypothyroid... |
ORPHA:3206 |
Autosomal Dominant Spastic Paraplegia Type 10 |
|
Distal lower limb amyotrophy, Peripheral axonal neuropathy, Dupuytren contracture, Spastic/hypera... |
ORPHA:100991 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Micrognathia, Short neck, Knee flexion contracture, Smooth tongue, Sparse hair, ... |
OMIM:601559 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Abnormality of the musculature of the limbs, Euthyroid goiter, Nephritis, Th... |
ORPHA:3327 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Hypospadias, Ventricular septal defect, Supernumerary nipple, Selective tooth agenesis, Hypoplasi... |
OMIM:106260 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Adrenal hypoplasia, Micrognathia, Polyhydramnios, Flexion contracture, Atri... |
OMIM:275210 |
Cowden Syndrome |
|
Abnormal penis morphology, Short stature, Abnormality of the kidney, Follicular thyroid carcinoma... |
ORPHA:201 |
Mass Syndrome |
|
Pectus carinatum, Mitral valve prolapse, Ascending aortic dissection, Scoliosis, Aortic aneurysm |
OMIM:604308 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Gastrointestinal hemorrhage, Medial calcification of large arteries, Premature occlusive vascular... |
OMIM:177850 |
Intellectual Developmental Disorder, Autosomal Dominant 52 |
|
Scapular winging, Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Low ... |
OMIM:617796 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Intestinal malrotation, Camptodactyly of finger, Joint stiffness, Flex... |
ORPHA:115 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Torticollis, Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledochus, Patent ductus... |
OMIM:619480 |
Imagawa-Matsumoto Syndrome |
|
Mandibular prognathia, Accelerated skeletal maturation, Cryptorchidism, Anteriorly placed anus, C... |
OMIM:618786 |
Solitary Median Maxillary Central Incisor |
|
Short stature, Decreased response to growth hormone stimulation test, Cyclopia, Cleft upper lip, ... |
OMIM:147250 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Polyhydramnios, Short neck, Micrognathia, Microvesicular hepatic steatosis, Flexion contracture, ... |
OMIM:300868 |
Pseudodiastrophic Dysplasia |
|
Smooth philtrum, Lumbar hyperlordosis, Rhizomelia, Severe short stature, Phalangeal dislocation, ... |
OMIM:264180 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Craniofacial hyperostosis, Hypoplasia of penis, Skeletal muscle atrophy, Hypogonadotropic hypogon... |
ORPHA:3068 |
Hall-Riggs Syndrome |
|
U-Shaped upper lip vermilion, Kyphosis, Delayed skeletal maturation, Thick lower lip vermilion, O... |
OMIM:234250 |
Meester-Loeys Syndrome |
|
Joint dislocation, Abnormal sternum morphology, High palate, Joint contracture, Bifid uvula, Shor... |
OMIM:300989 |
Prader-Willi Syndrome Due To Translocation |
|
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Short neck,... |
ORPHA:177907 |
Proteus-Like Syndrome |
|
Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Genu recurvatum, Venous i... |
ORPHA:2969 |
Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Thymoma, Chronic h... |
OMIM:269200 |
Multiple Endocrine Neoplasia Type 2 |
|
Multiple mucosal neuromas, Elevated circulating parathyroid hormone level, Pheochromocytoma, Gang... |
ORPHA:653 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Short palm, Hepatomegaly, Short neck, Cryptorchidism, Dehydration, Platyspondyly, Dysphagia, Intr... |
OMIM:618958 |
Primary Pulmonary Hypoplasia |
|
Recurrent respiratory infections, Ureteral stenosis, Dextrocardia, Abnormal hemidiaphragm morphol... |
ORPHA:2257 |
Stickler Syndrome, Type I |
|
Arthropathy, Micrognathia, Pectus excavatum, Kyphosis, Osteoarthritis, Submucous cleft hard palat... |
OMIM:108300 |
Blepharo-Cheilo-Odontic Syndrome |
|
Abnormal hair quantity, Conical tooth, Carious teeth, Bilateral cleft lip and palate, Distichiasi... |
ORPHA:1997 |
Neurofibroma |
|
Enlarged peripheral nerve, Kyphoscoliosis, Symmetric spinal nerve root neurofibromas, Peripheral ... |
ORPHA:252183 |
Multiple Epiphyseal Dysplasia Type 4 |
|
Cervical kyphosis, Micrognathia, Accelerated skeletal maturation, Flexion contracture, Short meta... |
ORPHA:93307 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Osteopenia, Deep philtrum, Renal cyst, Nephrocalcinosis, Downturned corners of mouth, High palate... |
OMIM:615398 |
Neu-Laxova Syndrome 1 |
|
Polyhydramnios, Short neck, Micrognathia, Swollen lip, Micromelia, Neonatal death, Pterygium, Age... |
OMIM:256520 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral stenosis, Mitral atresia, Aortic valve c... |
OMIM:109730 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short lingual frenulum, Polyhydramnios, Downturned corners of mouth, Gastroesophageal reflux, Sho... |
OMIM:617360 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Anterior pituitary hypoplasia, Micrognathia, Bilateral cryptorchidism, Elevated circulating thyro... |
OMIM:613457 |
Insulin-Resistance Syndrome Type B |
|
Osteoarthritis, Fasting hyperinsulinemia, Leukopenia, Abnormal salivary gland morphology, Nephrit... |
ORPHA:2298 |
Roberts-Sc Phocomelia Syndrome |
|
Polyhydramnios, Short neck, Micrognathia, Tetraphocomelia, Knee flexion contracture, Coloboma, Hi... |
OMIM:268300 |
Noonan Syndrome 7 |
|
Curly hair, Short stature, Joint hypermobility, Short neck, Pectus excavatum, Dysphagia, Pectus c... |
OMIM:613706 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Childhood-onset short-trunk short stature, Precocious cost... |
OMIM:271630 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Short neck, Deep philtrum, Anorectal anomaly, Low anterior hairline, Hem... |
ORPHA:647 |
Ring Chromosome 13 Syndrome |
|
Anal atresia, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Aplasia/Hypoplasia of the thu... |
ORPHA:96176 |
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Sacral dimple, Ventricular septal defect, Short stature, Dextrotransposition of the great arterie... |
OMIM:619995 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Pro... |
ORPHA:2140 |
17Q23.1Q23.2 Microdeletion Syndrome |
|
Sacral dimple, Short stature, Highly arched eyebrow, Patent ductus arteriosus, Limitation of join... |
ORPHA:261279 |
Desbuquois Dysplasia 1 |
|
Joint dislocation, Short neck, Osteoarthritis, Short metatarsal, Narrow chest, Genu varum, Micror... |
OMIM:251450 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,... |
OMIM:234100 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Thoracic scoliosis, Edema, Cardiomegaly, Polyhydramnios, Hig... |
ORPHA:79330 |
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome |
|
Abnormal intervertebral disk morphology, Abnormal heart valve morphology, Joint stiffness, Pulmon... |
ORPHA:1345 |
Culler-Jones Syndrome |
|
Ectopic posterior pituitary, Short stature, Anterior pituitary hypoplasia, Cleft upper lip, Crypt... |
OMIM:615849 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Broad eyebrow, Joint hypermobility, Hypoplasia ... |
ORPHA:481152 |
Holoprosencephaly-Craniosynostosis Syndrome |
|
Short stature, Craniosynostosis, Delayed skeletal maturation, Hypoplastic vertebral bodies, Holop... |
ORPHA:2163 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Mandibular prognathia, Hypoplasia of the maxilla, Kyphosis, Pectus excavatum, Pectus carinatum, H... |
OMIM:300676 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Thoracic scoliosis, Abnormal odontoid process morphology, Short stature, Abnormali... |
ORPHA:314621 |
Otopalatodigital Syndrome Type 1 |
|
Increased bone mineral density, Short hallux, Elbow dislocation, Short thumb, Hypoplastic frontal... |
ORPHA:90650 |
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type |
|
Irregularity of vertebral bodies, Short stature, Hypoplasia of the odontoid process, Small hand, ... |
ORPHA:85172 |
Feingold Syndrome |
|
Short stature, Micrognathia, Abnormality of the spleen, Patent ductus arteriosus, Esophageal atre... |
ORPHA:1305 |
Progressive Pseudorheumatoid Arthropathy Of Childhood |
|
Irregularity of vertebral bodies, Wrist swelling, Abnormal shoulder morphology, Irregular vertebr... |
ORPHA:1159 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Flexion contracture, High palate,... |
OMIM:300534 |
Spondyloepimetaphyseal Dysplasia, Krakow Type |
|
Decreased serum insulin-like growth factor 1, Rhizomelia, Elbow contracture, Ulnar deviation of t... |
OMIM:618162 |
Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
Thyrocerebroretinal Syndrome |
|
Skeletal muscle atrophy, Nephritis, Thrombocytopenia, Goiter |
OMIM:274240 |
Oxoglutaric Aciduria |
|
Skeletal muscle atrophy, Short stature, Hydrocephalus, Abnormal urine alpha-ketoglutarate concent... |
ORPHA:31 |
Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short stature, Decreased response to growth hormone stimulation ... |
OMIM:216100 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Persistent open anterior fontanelle, Micrognathia, Renal cyst, High palate, Atrial septal defect,... |
OMIM:614866 |
Urban-Rogers-Meyer Syndrome |
|
Hypoplasia of penis, Short stature, Camptodactyly of finger, Abnormality of the philtrum, Short n... |
ORPHA:3409 |
Coffin-Lowry Syndrome |
|
Mandibular prognathia, Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum... |
OMIM:303600 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Optic atrophy, Horseshoe kidney, Gastroesophageal reflux, Dysphagia, Joint contra... |
OMIM:617664 |
Pelvic Lipomatosis With Crossed Renal Ectopia |
|
Pelvic lipomatosis, Ectopic kidney |
OMIM:169545 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Renal cyst, Pectus carinatum, Vertebral segmentation defect, Vertebral fusion, Scapul... |
OMIM:272460 |
Ctcf-Related Neurodevelopmental Disorder |
|
Osteopenia, Synophrys, Gastroesophageal reflux, Joint contracture of the 5th finger, Short philtr... |
ORPHA:363611 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple, Congenital hip dislocation, Pectus excavatum, Cubitus valgus, Patent ductus arteri... |
OMIM:104350 |
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome |
|
Mandibular prognathia, Polyhydramnios, Gastroesophageal reflux, Atrial septal defect, Microretrog... |
ORPHA:459070 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Short stature, Abnormal auditory evoked potentials, Hypoplasia of the maxilla, Hydrocephalus, Hip... |
OMIM:109120 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Short metatarsal, Oligodontia, High pal... |
OMIM:170390 |
Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Knee osteoarthritis... |
OMIM:619656 |
Kaposi Sarcoma |
|
Abnormality of the gastrointestinal tract, Generalized lymphadenopathy, Lymphedema, Venous insuff... |
ORPHA:33276 |
Bilateral Polymicrogyria |
|
Micrognathia, Central hypothyroidism, Abnormality of masticatory muscle, Facial diplegia, Abnorma... |
ORPHA:268940 |
Ring Chromosome 8 Syndrome |
|
Polyhydramnios, Abnormality of the ureter, Low posterior hairline, Hydronephrosis, Abnormal palat... |
ORPHA:1450 |
Atrial Septal Defect 4 |
|
Atrial septal defect, Patent foramen ovale, Coarctation of aorta |
OMIM:611363 |
Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... |
OMIM:108800 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Macular coloboma, Facial palsy, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
Ververi-Brady Syndrome |
|
Thin upper lip vermilion, Short stature, Delayed skeletal maturation, Wide mouth, High palate, Tr... |
OMIM:617982 |
Teebi-Shaltout Syndrome |
|
High, narrow palate, Low anterior hairline, Pectus carinatum, Oligodontia, Sparse hair, Prominent... |
OMIM:272950 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Secundum atrial septal defect, Multiple prenatal fractures, Flexion contracture, Axonal loss, Hig... |
OMIM:616866 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, S... |
ORPHA:247262 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2 |
|
Brittle hair, Dental crowding, Oral-pharyngeal dysphagia, Oligodontia, Short palm, Atrial septal ... |
OMIM:619184 |
Seizures-Scoliosis-Macrocephaly Syndrome |
|
Abnormality of the kidney, Polyhydramnios, Cryptorchidism, Reduced bone mineral density, Gastroes... |
ORPHA:466926 |
Mowat-Wilson Syndrome |
|
Pectus carinatum, Widely spaced teeth, Chorioretinal coloboma, Atrial septal defect, Agenesis of ... |
OMIM:235730 |
Enlarged Parietal Foramina |
|
Occipital encephalocele, Craniosynostosis, Cleft lip, Myelomeningocele, Cleft palate, Short clavi... |
ORPHA:60015 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Myositis, Palpebral edema, Retroperitoneal fibrosis, Facial edema, Enlarged lacrimal glands, Thyr... |
ORPHA:79078 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Recurrent fractures, Beaded ribs, Pectus excavatum, Kyphosis, Multiple prenata... |
OMIM:259440 |
Anauxetic Dysplasia 3 |
|
Recurrent respiratory infections, Sparse scalp hair, Severe short stature, Broad eyebrow, Thoraco... |
OMIM:618853 |
Fraser Syndrome |
|
Hypoplasia of penis, Dental crowding, Abnormal lung lobation, Orofacial cleft, Urethral atresia, ... |
ORPHA:2052 |
Non-Acquired Panhypopituitarism |
|
Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypog... |
ORPHA:90695 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Tongue... |
OMIM:601596 |
Chondroectodermal Dysplasia With Night Blindness |
|
Osteopenia, Abnormality of the knee, Short stature, Abnormal dental morphology, Micrognathia, Abn... |
ORPHA:319195 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, High palate, Atrial septal defect, Patent foramen ovale, Short stature, ... |
OMIM:270450 |
Atrial Septal Defect 9 |
|
Secundum atrial septal defect, Pulmonary arterial hypertension, Bicuspid aortic valve |
OMIM:614475 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... |
OMIM:615508 |
Infantile Liver Failure Syndrome 3 |
|
Hepatomegaly, Abnormal acetabulum morphology, Short stature, Splenomegaly, Jaundice, Cholestasis,... |
OMIM:618641 |
Hypertelorism-Microtia-Facial Clefting Syndrome |
|
Severe short stature, Thenar muscle atrophy, Horseshoe kidney, Crossed fused renal ectopia, Media... |
ORPHA:2213 |
Epiphyseal Dysplasia, Multiple, 7 |
|
Advanced ossification of carpal bones, Flat acetabular roof, Vertebral wedging, Platyspondyly, Sh... |
OMIM:617719 |
Mulchandani-Bhoj-Conlin Syndrome |
|
Severe short stature, Hyperlordosis, Horseshoe kidney, Scoliosis, Intrauterine growth retardation... |
OMIM:617352 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Tented upper lip vermilion, Kyphosis, Hydrocephalus, Craniofacial osteo... |
OMIM:618476 |
Pontocerebellar Hypoplasia, Type 17 |
|
Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Kyphosis, Patent duc... |
OMIM:619909 |
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome |
|
Joint laxity, Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Polyhydramnios... |
ORPHA:500533 |
Livedoid Vasculopathy |
|
Enlargement of the ankles, Diabetes mellitus, Abnormal capillary morphology, Pancytopenia, Telang... |
ORPHA:542643 |
Dyskeratosis Congenita |
|
Abnormality of neutrophils, Hypoplasia of the maxilla, Anorectal anomaly, White hair, Premature g... |
ORPHA:1775 |
Pfeiffer Syndrome Type 3 |
|
Intestinal malrotation, Tracheomalacia, Short hallux, Aqueductal stenosis, Limitation of joint mo... |
ORPHA:93260 |
Gaucher Disease, Type Ii |
|
Hepatomegaly, Splenomegaly, Trismus, Thrombocytopenia, Anemia, Gastroesophageal reflux, Dysphagia... |
OMIM:230900 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Mandibular prognathia, Recurrent urinary tract infections, Hypospadias, Ventricular septal defect... |
OMIM:619103 |
Wildervanck Syndrome |
|
Facial palsy, Short neck, Meningocele, Low posterior hairline, Fused cervical vertebrae, Pseudopa... |
ORPHA:3456 |
Kinsship Syndrome |
|
Mandibular prognathia, Osteopenia, Short neck, Micrognathia, Synophrys, Downturned corners of mou... |
OMIM:619297 |
Axenfeld-Rieger Syndrome, Type 2 |
|
Mandibular prognathia, Anal stenosis, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Cr... |
OMIM:601499 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Mandibular prognathia, Hypoplasia of penis, Short stature, Slow-growing hair, Short neck, Microgn... |
ORPHA:3082 |
Common Variable Immunodeficiency |
|
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr... |
ORPHA:1572 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Macrocytic anemia, Short stature, Congenital diaphragmatic hernia, Micrognathia, Sparse eyebrow, ... |
OMIM:606164 |
Fanconi Anemia, Complementation Group D1 |
|
Acute myeloid leukemia, Short stature, Short thumb, T-cell acute lymphoblastic leukemias, Bone ma... |
OMIM:605724 |
Spondyloepimetaphyseal Dysplasia, Di Rocco Type |
|
Short stature, Delayed skeletal maturation, Reduced bone mineral density, Platyspondyly, Delayed ... |
OMIM:617974 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Aplasia of ... |
ORPHA:1352 |
Pseudo-Torch Syndrome 1 |
|
Microretrognathia, Hepatomegaly, Renal insufficiency, Petechiae, Splenomegaly, Patent ductus arte... |
OMIM:251290 |
Arboleda-Tham Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Secundum atrial septal defect, Downturned corner... |
OMIM:616268 |
Cole-Carpenter Syndrome 2 |
|
Microretrognathia, Osteopenia, Wide cranial sutures, Short stature, Recurrent fractures, Pectus e... |
OMIM:616294 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Osteopenia, Ureteral duplication, Cholangitis, Edema, Short neck, Micrognathia, Short metatarsal,... |
OMIM:266920 |
Thymic Neuroendocrine Tumor |
|
Osteopenia, Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, ... |
ORPHA:97289 |
Autosomal Recessive Malignant Osteopetrosis |
|
Bone pain, Reduced bone mineral density, Narrow chest, Hepatomegaly, Pulmonary artery stenosis, A... |
ORPHA:667 |
Thyroid Hormone Resistance, Generalized, Autosomal Recessive |
|
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... |
OMIM:274300 |
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia |
|
Irregularity of vertebral bodies, Short stature, Genu valgum, Platyspondyly, Short femoral neck |
OMIM:609324 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... |
ORPHA:93284 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Joint dislocation, Generalized joint laxity, High palate, Atrial septal defect, Ecchymosis, Long ... |
OMIM:601776 |
3-Methylglutaconic Aciduria, Type V |
|
Prolonged QT interval, Noncompaction cardiomyopathy, Diaphragmatic eventration, Hypospadias, Sudd... |
OMIM:610198 |
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones |
|
Osteopenia, Short stature, Sparse facial hair, Sparse axillary hair, Hypoplasia of the maxilla, C... |
OMIM:608154 |
Spondyloepiphyseal Dysplasia Congenita |
|
Limited elbow movement, Short neck, Pectus carinatum, Delayed calcaneal ossification, Bifid uvula... |
OMIM:183900 |
Ivic Syndrome |
|
Severe short stature, Aplastic clavicle, Joint stiffness, Thrombocytopenia, Leukocytosis, Hypopla... |
ORPHA:2307 |
Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... |
OMIM:187300 |
46,Xy Sex Reversal 4 |
|
Distal symphalangism, Hypergonadotropic hypogonadism, Micrognathia, Cleft palate, Hydronephrosis,... |
OMIM:154230 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Thin upper lip vermilion, Short humerus, Short femur, Hypospadias, Rhizomelia, Edema, Polyhydramn... |
OMIM:607143 |
Osteoarthritis With Mild Chondrodysplasia |
|
Short stature, Heberden's node, Joint stiffness, Knee osteoarthritis, Schmorl's node, Irregular v... |
OMIM:604864 |
Noonan Syndrome 5 |
|
Mandibular prognathia, Curly hair, Short stature, Polyhydramnios, Short neck, Sparse eyebrow, Cry... |
OMIM:611553 |
Multiple Epiphyseal Dysplasia, Beighton Type |
|
Low back pain, Thoracic scoliosis, Abnormal acetabulum morphology, Short stature, Joint stiffness... |
ORPHA:166011 |
White Forelock With Malformations |
|
Deep philtrum, Delayed skeletal maturation, Abnormal rib morphology, Joint hyperflexibility, Whit... |
ORPHA:2475 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of the costochondral junc... |
OMIM:271650 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Delayed skeletal maturation, Genu valgum, Platyspondyly, Genu varum |
OMIM:608361 |
Osteogenesis Imperfecta, Type X |
|
Osteopenia, Thoracic scoliosis, Micromelia, Micrognathia, Generalized joint laxity, Narrow chest,... |
OMIM:613848 |
Hyperparathyroidism, Transient Neonatal |
|
Communicating hydrocephalus, Osteopenia, Hyperparathyroidism, Polyhydramnios, Gastroesophageal re... |
OMIM:618188 |
Restrictive Dermopathy 2 |
|
Microretrognathia, Rectal prolapse, Hypoplastic facial bones, Gastroesophageal reflux, Short clav... |
OMIM:619793 |
Exstrophy-Epispadias Complex |
|
Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd... |
ORPHA:322 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Thoracic hypoplasia, Intestinal malrotation, Micrognathia, Missing ribs... |
OMIM:617866 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Sparse scalp hair, Inguinal hernia, Short stature, Abnormality of the kidney, Sagittal craniosyno... |
ORPHA:459061 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Short stature, Kyphoscoliosis, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Lo... |
OMIM:612847 |
Familial Colorectal Cancer Type X |
|
Neoplasm of the pancreas, Renal neoplasm, Pancreatic adenocarcinoma, Neoplasm of the colon, Cardi... |
ORPHA:440437 |
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Severe short stature, Postnatal growth retardation, Platyspondyly, Scoliosis, Genu varum |
OMIM:618728 |
Acitretin/Etretinate Embryopathy |
|
Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia... |
ORPHA:40366 |
Brachydactylous Dwarfism, Mseleni Type |
|
Osteopenia, Severe short stature, Protrusio acetabuli, Short toe, Knee osteoarthritis, Limitation... |
ORPHA:2619 |
Postaxial Acrofacial Dysostosis |
|
Hypoplasia of the ulna, Congenital hip dislocation, Abnormality of the kidney, Supernumerary nipp... |
OMIM:263750 |
Bangstad Syndrome |
|
Pancytopenia, Severe short stature, Insulin-resistant diabetes mellitus, Primary gonadal insuffic... |
OMIM:210740 |
Ascher Syndrome |
|
Upper eyelid edema, Abnormal upper lip morphology, High palate, Hypothyroidism, Goiter |
ORPHA:1253 |
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies |
|
Ureteral duplication, Intestinal malrotation, Polyhydramnios, Optic disc coloboma, Cleft palate, ... |
OMIM:270420 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion... |
OMIM:618974 |
Frontorhiny |
|
Encephalocele, Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Hypoplasia of ... |
ORPHA:391474 |
Mucopolysaccharidosis, Type Iiia |
|
Hepatomegaly, Inguinal hernia, Thickened ribs, Joint stiffness, Heparan sulfate excretion in urin... |
OMIM:252900 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Cholestasis, Hematuria, Renal tub... |
OMIM:610205 |
3Mc Syndrome 2 |
|
Limited elbow movement, Partial abdominal muscle agenesis, Downturned corners of mouth, High pala... |
OMIM:265050 |
Craniodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal rib morphology, Optic atrophy, Short stature |
ORPHA:1513 |
Thanatophoric Dysplasia, Type I |
|
Small abnormally formed scapulae, Polyhydramnios, Short neck, Hydrocephalus, Wide-cupped costocho... |
OMIM:187600 |
Dysspondyloenchondromatosis |
|
Joint dislocation, Enlarged joints, Short stature, Kyphoscoliosis, Osteoarthritis, Generalized jo... |
ORPHA:85198 |
Encephalocraniocutaneous Lipomatosis |
|
Craniofacial hyperostosis, Alopecia, Lipodystrophy, Abnormal eyelash morphology, Osteolysis, Coar... |
ORPHA:2396 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type |
|
Joint laxity, Curly hair, Short stature, Micrognathia, Hyperlordosis, Pectus carinatum, Mitral va... |
OMIM:300986 |
Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Enlarged joints, Rhizomelia, Short neck, Pectus excavatum, Dela... |
OMIM:156550 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Mandibular prognathia, Abnormal dental enamel morphology, Hydrocephalus, Hemivertebrae, Abnormal ... |
ORPHA:2180 |
Silver-Russell Syndrome 1 |
|
Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia,... |
OMIM:180860 |
Autosomal Recessive Stickler Syndrome |
|
Short stature, Micrognathia, Cleft palate, Genu valgum, Irregular vertebral endplates, Platyspond... |
ORPHA:250984 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Multicystic kidney dysplasia, Multinodular goiter |
ORPHA:2091 |
Waardenburg Syndrome Type 1 |
|
Mandibular prognathia, Hypopigmentation of hair, Tented upper lip vermilion, Aganglionic megacolo... |
ORPHA:894 |
Orofaciodigital Syndrome I |
|
Dry hair, Lobulated tongue, Hepatic fibrosis, High palate, Sparse hair, Agenesis of corpus callos... |
OMIM:311200 |
Tuberous Sclerosis Complex |
|
Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, Internal hemorrhage, A... |
ORPHA:805 |
Neurooculocardiogenitourinary Syndrome |
|
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Paten... |
OMIM:618652 |
Branchioskeletogenital Syndrome |
|
Mandibular prognathia, Short neck, Hypoplasia of the maxilla, Upper limb peromelia, Synophrys, An... |
ORPHA:1299 |
Caudal Duplication |
|
Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Renal hypoplasia/apla... |
ORPHA:1756 |
Congenital Myopathy 11 |
|
Polyhydramnios, Patent ductus arteriosus, Atrial septal defect, Weakness of facial musculature, P... |
OMIM:619967 |
Goldberg-Shprintzen Syndrome |
|
Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Highly arched eyebrow, Sh... |
OMIM:609460 |
Fibrodysplasia Ossificans Progressiva |
|
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Alopecia, Ectopic o... |
OMIM:135100 |
Squamous Cell Carcinoma Of The Anal Canal |
|
Anal stenosis, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung, Neoplasm of the liver, Int... |
ORPHA:424019 |
Pseudodiastrophic Dysplasia |
|
Omphalocele, Rhizomelia, Phalangeal dislocation, Elbow dislocation, Platyspondyly, Scoliosis, Mal... |
ORPHA:85174 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Cleft palate, Kyphoscoliosis, Gastroesophageal reflux |
OMIM:612913 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Multiple joint contractures, Short neck, Secundum atrial septal defect, Subarterial ventricular s... |
ORPHA:99646 |
Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... |
OMIM:615067 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Mandibular prognathia, Joint laxity, Diabetes mellitus, Hyperthyroidism, Mitral valve prolapse, H... |
ORPHA:449291 |
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome |
|
Osteopenia, Villous atrophy, Medial calcification of large arteries, Functional abnormality of th... |
ORPHA:391487 |
Mucopolysaccharidosis, Type Iiic |
|
Hepatomegaly, Thickened ribs, Kyphoscoliosis, Joint stiffness, Heparan sulfate excretion in urine... |
OMIM:252930 |
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome |
|
Ventricular septal defect, Short stature, Abnormality of the philtrum, Renal hypoplasia/aplasia, ... |
ORPHA:1770 |
Graves Disease, Susceptibility To, 1 |
|
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Congest... |
OMIM:275000 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Recurrent infections due to aspiration, Qua... |
ORPHA:70 |
Kleefstra Syndrome 1 |
|
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, U-Shaped upper lip vermilio... |
OMIM:610253 |
Systemic Sclerosis |
|
Flexion contracture, Intestinal bleeding, Interstitial cardiac fibrosis, Gastroesophageal reflux,... |
ORPHA:90291 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of hair, Short stature, Albinism, Kyphosis, Osteoporosis, Platyspondyly |
ORPHA:2786 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Inguinal hernia, Severe short stature, Anterior rib cupping, Hyperlordosis, Hypoplasia of the odo... |
OMIM:184250 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Micrognathia, Synophrys, Sparse hair, Dystrophic fingernails, Anodontia, Alopecia, Abnormal denta... |
ORPHA:3253 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Sinusitis, Micrognathia, High, narrow palate, Glossoptosis, Narrow chest, ... |
ORPHA:1452 |
Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Down-sloping shoulders, Proportionate short stature, Pectus ex... |
OMIM:227330 |
Kapur-Toriello Syndrome |
|
Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Short neck, Dysplastic co... |
ORPHA:2328 |
Pseudo-Torch Syndrome 2 |
|
Hepatomegaly, Petechiae, Cerebral hemorrhage, Secundum atrial septal defect, Thrombocytopenia, Pa... |
OMIM:617397 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Abnorm... |
ORPHA:2519 |
Congenital Heart Defects, Multiple Types, 3 |
|
Tachycardia, Atrial fibrillation, Atrioventricular block, Abnormal heart morphology, Right bundle... |
OMIM:614954 |
Klippel-Trenaunay-Weber Syndrome |
|
Lymphangioma, Arteriovenous fistula, Hand oligodactyly, Lymphedema |
OMIM:149000 |
Omodysplasia 1 |
|
Micrognathia, Short neck, Limited elbow flexion, Atrial septal defect, Short tibia, Rhizomelia, C... |
OMIM:258315 |
Igg4-Related Submandibular Gland Disease |
|
Renal insufficiency, Abnormality of the kidney, Cholangitis, Eosinophilia, Abnormality of the thy... |
ORPHA:449432 |
Spondylocamptodactyly Syndrome |
|
Platyspondyly, Camptodactyly of finger, Scoliosis |
ORPHA:3180 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Nijmegen Breakage Syndrome |
|
Conjunctival telangiectasia, Sinusitis, Micrognathia, Malar prominence, Deep philtrum, T lymphocy... |
OMIM:251260 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Premature osteoarthritis, Pierre-Robin sequence, Cleft palate, Platyspondyly, Malar flattening |
OMIM:184840 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Short stature, Cleft palate, Sh... |
OMIM:614207 |
Spinal Dysplasia, Anhalt Type |
|
Osteoarthritis of the small joints of the hand, Short stature, Thoracolumbar scoliosis, Absent sp... |
OMIM:601344 |
Hutchinson-Gilford Progeria Syndrome |
|
Dental crowding, Short lingual frenulum, Myocardial infarction, Micrognathia, Osteoarthritis, Red... |
ORPHA:740 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Accelerated skeletal maturation, Pectus exc... |
OMIM:614753 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Hypogonadotropic hypogonadism, Short stature, Polycystic ovaries, Ectopic anus |
ORPHA:1643 |
Lynch Syndrome |
|
Neoplasm of the pancreas, Intestinal polyposis, Pancreatic adenocarcinoma, Gastrointestinal hemor... |
ORPHA:144 |
Aneurysm-Osteoarthritis Syndrome |
|
Osteoarthritis, Knee osteoarthritis, Pectus carinatum, High palate, Bifid uvula, Abdominal aortic... |
ORPHA:284984 |
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus |
|
Ivory epiphyses of the phalanges of the hand, Irregular vertebral endplates, High palate, Barrel-... |
OMIM:226980 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Osteoarthritis, Abnormal joint morphology, Abnormal rib morphology,... |
ORPHA:93351 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy... |
ORPHA:91347 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Severe B lymphocytopenia, Micrognathia, Hepatic fibrosis, Microdontia, Atrial septal defect, Spar... |
OMIM:620005 |
Thyroid Hormone Resistance, Generalized, Autosomal Dominant |
|
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... |
OMIM:188570 |
Spondylometaphyseal Dysplasia, A4 Type |
|
Severe short stature, Micromelia, Limitation of joint mobility, Platyspondyly, Flared, irregular ... |
ORPHA:168555 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Increased intervertebral space, Delayed epiphyseal ossification, Short metatarsal, Pectus carinat... |
ORPHA:93314 |
Pfeiffer Syndrome Type 2 |
|
Intestinal malrotation, Short hallux, Aqueductal stenosis, Hydrocephalus, Limitation of joint mob... |
ORPHA:93259 |
Lymphedema-Distichiasis Syndrome |
|
Ventricular septal defect, Predominantly lower limb lymphedema, Nonimmune hydrops fetalis, Microg... |
OMIM:153400 |
Radiation Proctitis |
|
Intestinal obstruction, Rectal fistula, Abnormal vascular morphology, Abnormal gastrointestinal v... |
ORPHA:70475 |
16P12.1P12.3 Triplication Syndrome |
|
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig... |
ORPHA:485405 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Inguinal hernia, Ventricular septal defect, Short stature, Unilateral rena... |
OMIM:608572 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Brittle hair, Hypospadias, Short stature, Submucous cleft hard palate, Flexion contracture, Gener... |
OMIM:618891 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Flexion contracture, Xerostomia, Downturned corners of mouth, Gastroesophageal reflux... |
ORPHA:398069 |
Von Willebrand Disease |
|
Venous insufficiency, Abnormal mitral valve morphology |
ORPHA:903 |
Thyroid Dyshormonogenesis 5 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274900 |
Thyroid Dyshormonogenesis 4 |
|
Growth delay, Hypothyroidism, Goiter |
OMIM:274800 |
Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Aortic regurgitation, Bicuspid aortic valve, Aortic valve calcification, He... |
ORPHA:402075 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Osteopenia, Micrognathia, Hypoplasia of the maxilla, Metatarsal osteolysis, Camptodactyly of toe,... |
OMIM:259600 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Polyhydramnios, Micromelia, Wide-cupped costochondral junctions... |
OMIM:187601 |
Mucopolysaccharidosis Type 6 |
|
Sinusitis, Abnormal heart valve morphology, Ovoid vertebral bodies, Short neck, Joint stiffness, ... |
ORPHA:583 |
Melioidosis |
|
Shock, Foot osteomyelitis, Liver abscess, Lung abscess, Pneumonia, Respiratory tract infection, A... |
ORPHA:31202 |
Dyggve-Melchior-Clausen Disease |
|
Mandibular prognathia, Short neck, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Thorac... |
OMIM:223800 |
Visceral Myopathy 2 |
|
Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr... |
OMIM:619350 |
Al Kaissi Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Torticollis, Short stature, Macrodontia, Postnatal growt... |
OMIM:617694 |
Isolated Anencephaly |
|
Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes, Congenital diaphragmatic ... |
ORPHA:563609 |
Autosomal Dominant Spastic Paraplegia Type 29 |
|
Hernia, Abnormal rectum morphology, Abnormality of the lower urinary tract, Hiatus hernia |
ORPHA:101009 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type |
|
Short neck, Abnormal hair whorl, Synophrys, Horseshoe kidney, Low posterior hairline, Downturned ... |
OMIM:300860 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Tricuspid regurgitation, Camptodactyly of finger, Hypopla... |
ORPHA:1101 |
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type |
|
Abnormally ossified vertebrae, Restricted large joint movement, Maternal diabetes, Micrognathia, ... |
ORPHA:93346 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
ORPHA:67045 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Short stature, ... |
OMIM:610967 |
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin |
|
Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d... |
OMIM:619769 |
Papillorenal Syndrome |
|
Joint laxity, Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Short stature, Edema,... |
OMIM:120330 |
Thyroid Dyshormonogenesis 3 |
|
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter |
OMIM:274700 |
Craniosynostosis, Herrmann-Opitz Type |
|
Short stature, Abnormality of the upper urinary tract, Micrognathia, Abnormality of the urethra, ... |
ORPHA:2145 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B |
|
Fused thoracic vertebrae, Tarsal synostosis, Short neck, Flexion contracture, Antecubital pterygi... |
OMIM:618469 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Ga... |
ORPHA:466791 |
Singleton-Merten Syndrome 1 |
|
Osteopenia, Cardiomegaly, Hypoplasia of the maxilla, Eruption failure, Joint subluxation, Muscle ... |
OMIM:182250 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Micrognathia, Secundum atrial septal defect, Flexion contracture, Downturned corners ... |
OMIM:264090 |
Frontoocular Syndrome |
|
Micrognathia, Pectus excavatum, Narrow philtrum, High palate, Pulmonic stenosis, Narrow mouth, At... |
OMIM:605321 |
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy |
|
Joint laxity, Thick upper lip vermilion, Facial hypotonia, Polyhydramnios, Thick lower lip vermil... |
OMIM:611087 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Hypoplasia of penis, Hepatomegaly, Prominent metopic ridge, M... |
ORPHA:46059 |
Trichohepatoenteric Syndrome 1 |
|
Villous atrophy, Brittle hair, Polyhydramnios, Hepatic fibrosis, Sparse hair, Bifid uvula, Hepato... |
OMIM:222470 |
Cardiofaciocutaneous Syndrome 3 |
|
Curly hair, Ventricular septal defect, Short stature, Short neck, Pectus excavatum, Reduced bone ... |
OMIM:615279 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Renal hypoplasia, Cleft palate, High ... |
OMIM:246560 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Ventricular septal defect, Short stature, Unilateral renal agenesis, Cryptorchidism, Patent ductu... |
OMIM:620024 |
Thoraco-Abdominal Enteric Duplication |
|
Hepatomegaly, Intestinal malrotation, Dextrocardia, Missing ribs, Camptodactyly of finger, Mening... |
ORPHA:1759 |
Chromosome 17Q23.1-Q23.2 Deletion Syndrome |
|
Bicuspid aortic valve, Short stature, Secundum atrial septal defect, Postnatal growth retardation... |
OMIM:613355 |
Kikuchi-Fujimoto Disease |
|
Generalized lymphadenopathy, Oral ulcer, Leukopenia, Lymphocytosis, Neutropenia, Hepatomegaly, Al... |
ORPHA:50918 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Atrial septal defect, Short stature, Submucous cleft hard palate, Renal hy... |
OMIM:617660 |
Pendred Syndrome |
|
Compensated hypothyroidism, Thyroid carcinoma, Goiter |
OMIM:274600 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Short stature, Rhizomelia, Micrognathia, Hydrocephalus, Thin ribs, Wide mouth, Short foot, Platys... |
ORPHA:163966 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Giant cell hepatitis, Micrognathia, Dehydration, Nephrocalcinosis, Aminoaciduria, Atrial septal d... |
OMIM:208085 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Pulmonary fibrosis, Goiter |
OMIM:617175 |
Thyroid Dyshormonogenesis 2A |
|
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... |
OMIM:274500 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Limited elbow movement, Short neck, Micrognathia, Reduced bone mineral density, Glosso... |
ORPHA:94068 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Neurogenic bladder, Hydroureter, Diabetes mellitus, Diabetes insipidus, Meg... |
OMIM:222300 |
Acromesomelic Dysplasia 4 |
|
Mandibular prognathia, Thoracic scoliosis, Accelerated skeletal maturation, Synophrys, Short meta... |
OMIM:619636 |
Semilobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Decreased response to growth hormone stimulation test, Flexion contracture, Panhypopituitarism, H... |
ORPHA:93924 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Scapular winging, Inguinal hernia, Supernumerary nipple, Micrognathia, Pectus excavatum, Widow's ... |
OMIM:619122 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Renal hypoplasia, Spinal dysraphism, Scoliosis, Lipoma, Nephroblastoma, Venous malf... |
OMIM:612918 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Thin upper lip vermilion, Curly hair, Tented upper lip vermilion, Kyphoscoliosis, Sparse eyebrow,... |
OMIM:620075 |
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Inguinal hernia, Ventricular septal defect, Tran... |
ORPHA:500095 |
Thyroid Cancer, Nonmedullary, 1 |
|
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter |
OMIM:188550 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Desquamative interstitial pneumonitis, Intraalveolar phospholipid accumulation, Absent bronchoalv... |
OMIM:265120 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... |
ORPHA:77301 |
Spondyloepiphyseal Dysplasia Tarda With Mental Retardation |
|
Platyspondyly, Anterior beaking of lumbar vertebrae |
OMIM:271620 |
Hyperinsulinemic Hypoglycemia, Familial, 2 |
|
Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia |
OMIM:601820 |
Kdm5C-Related Syndromic X-Linked Intellectual Disability |
|
Short stature, Camptodactyly of finger, Hypoplasia of the maxilla, Cryptorchidism, Patchy alopeci... |
ORPHA:85279 |
Neu-Laxova Syndrome |
|
Osteopenia, Skeletal muscle atrophy, Polyhydramnios, Micrognathia, Micromelia, Flexion contractur... |
ORPHA:2671 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Hypoplasia of the zygomatic bon... |
ORPHA:556955 |
Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Delayed epiphyseal ossification, Generalized joi... |
ORPHA:93357 |
Peutz-Jeghers Syndrome |
|
Neoplasm of the pancreas, Bile duct polyp, Rectal prolapse, Abnormality of the ureter, Biliary tr... |
OMIM:175200 |
Indomethacin Embryofetopathy |
|
Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Hydrops fetalis, Ol... |
ORPHA:1909 |
Joubert Syndrome 38 |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Short stature, Decreas... |
OMIM:619476 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Hydroureter, Hypospadias, Short stature,... |
ORPHA:568 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Skeletal muscle atrophy, Congenital muscular torticollis, Polyhydramnios, Downturned corners of m... |
ORPHA:2215 |
Pituitary Hormone Deficiency, Combined, 6 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Short stature, Decrease... |
OMIM:613986 |
Short Stature, Brussels Type |
|
Microretrognathia, Short stature, Delayed epiphyseal ossification, Horseshoe kidney, Growth delay... |
ORPHA:2867 |
Campomelia, Cumming Type |
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Hepatomegaly, Multicystic kidney dysplasia, Abnormally ossified vertebrae, Micromelia, Lymphedema... |
ORPHA:1318 |
Angioosteohypotrophic Syndrome |
|
Hypoplasia of the ulna, Prominent superficial veins, Short humerus, Telangiectasia of the skin, A... |
ORPHA:75508 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Joint stiffness, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum |
ORPHA:2182 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Hypoplasia of penis, Short stature, Short neck, Abnormality of the thyroid gland, Hemivertebrae, ... |
ORPHA:2234 |
Atelosteogenesis, Type Iii |
|
Cervical segmentation defect, Rhizomelia, Cervical kyphosis, Short neck, Micrognathia, Hypoplasia... |
OMIM:108721 |
Fountain Syndrome |
|
Craniofacial hyperostosis, Thick eyebrow, Short stature, Spina bifida, Pectus excavatum, Kyphosis... |
ORPHA:3219 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasi... |
ORPHA:2476 |
Short Stature-Deafness-Neutrophil Dysfunction-Dysmorphism Syndrome |
|
Ectopic anus, Short stature, Craniosynostosis |
ORPHA:2866 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Nodular pattern on pulmonary HRCT, Hypermobility of distal interphalangeal joints, Periodontitis,... |
OMIM:130050 |
Leprechaunism |
|
Reduced subcutaneous adipose tissue, Hepatomegaly, Enlarged ovaries, Skeletal muscle atrophy, Pos... |
ORPHA:508 |
Brachyolmia Type 2 |
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Platyspondyly, Short stature |
OMIM:613678 |
Spondyloenchondrodysplasia With Immune Dysregulation |
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Increased intervertebral space, Irregular vertebral endplates, T lymphocytopenia, Neutropenia, Ju... |
OMIM:607944 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Kyphoscoliosis, Bi... |
OMIM:617403 |
Holoprosencephaly, Semilobar, With Craniosynostosis |
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Hypoplastic vertebral bodies, Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal c... |
OMIM:601370 |
Autoimmune Polyendocrinopathy Type 3 |
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Osteopenia, Atrophic gastritis, Autoimmune hypoparathyroidism, Xerostomia, Tubulointerstitial nep... |
ORPHA:227982 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Joint stiffness, Postnatal growth retardati... |
OMIM:608940 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Omphalocele, Abnormally ossified vertebrae, Intestinal malrotation, Micrognathia, Aqueductal sten... |
ORPHA:3035 |
Holoprosencephaly 3 |
|
Cleft lip, Cleft palate, Hydronephrosis, Holoprosencephaly, Solitary median maxillary central inc... |
OMIM:142945 |
Autoimmune Polyendocrinopathy Type 4 |
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Osteopenia, Atrophic gastritis, Xerostomia, Tubulointerstitial nephritis, Leukopenia, Hashimoto t... |
ORPHA:227990 |
Hypoglossia-Hypodactyly Syndrome |
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Jejunal atresia, Aplasia/Hypoplasia of the tongue, Micrognathia, Adactyly, Aplasia/Hypoplasia of ... |
ORPHA:989 |
Tyshchenko Syndrome |
|
Ventricular septal defect, Short stature, Supernumerary nipple, Polyhydramnios, Pectus excavatum,... |
OMIM:615102 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ventricular septal d... |
ORPHA:411709 |
Acrodysostosis |
|
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Short... |
ORPHA:950 |
Second Metatarsal-Metacarpal Syndrome |
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Platyspondyly, Synostosis of carpals/tarsals |
OMIM:269630 |
Chime Syndrome |
|
Short philtrum, Short palm, Microdontia, Sparse hair, Abnormal dental morphology, Abnormality of ... |
ORPHA:3474 |
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
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Recurrent respiratory infections, Alopecia, Osteomyelitis, Eosinophilia, Micrognathia, Abnormalit... |
OMIM:618282 |
Familial Adenomatous Polyposis |
|
Duodenal polyposis, Multiple gastric polyps, Eruption failure, Papillary thyroid carcinoma, Adeno... |
ORPHA:733 |
Morquio Syndrome C |
|
Platyspondyly, Severe short stature |
OMIM:252300 |
Fetal Iodine Deficiency Disorder |
|
Congenital goiter, Congenital hypothyroidism |
OMIM:228355 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
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Short stature, Narrow mouth, Growth delay, Downturned corners of mouth, Wide mouth, Long philtrum... |
OMIM:617333 |
Developmental And Epileptic Encephalopathy 66 |
|
Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Synophrys, Dow... |
OMIM:618067 |
Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Polyhydramnios, Short neck, Lateral clavicle hook, Cryptorchidism, Accelera... |
ORPHA:3144 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretin... |
OMIM:613702 |
Otospondylomegaepiphyseal Dysplasia |
|
Abnormally ossified vertebrae, Lumbar hyperlordosis, Enlarged joints, Short metacarpal, Polyhydra... |
ORPHA:1427 |
Congenital Fibrinogen Deficiency |
|
Abnormal bleeding, Tachycardia, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, M... |
ORPHA:335 |
Thyroid Cancer, Nonmedullary, 4 |
|
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm |
OMIM:616534 |
Penile Agenesis |
|
Maternal diabetes, Fetal pyelectasis, Bilateral renal hypoplasia, Anorectal anomaly, Absent penis... |
ORPHA:49 |
Dysostosis, Stanescu Type |
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Persistent open anterior fontanelle, Increased bone mineral density, Short stature, Abnormal dent... |
ORPHA:1798 |
Milroy Disease |
|
Predominantly lower limb lymphedema, Ankle swelling, Lymphedema, Pedal edema, Hydrocele testis, V... |
ORPHA:79452 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Edema, Xerostomia, Downturned ... |
ORPHA:739 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Gastroesophageal refl... |
ORPHA:268261 |
Wildervanck Syndrome |
|
Fused cervical vertebrae, Pseudopapilledema |
OMIM:314600 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Renal insufficiency, Short stature, Micromelia, Short thorax, Abnor... |
ORPHA:474 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Short stature, Lateral clavicle h... |
OMIM:171480 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Urinary incontinence, Severe short stature, Kyphosis, Hydroceph... |
OMIM:616482 |
Rhabdomyosarcoma, Embryonal, 2 |
|
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... |
OMIM:180295 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Hypogonadotropic hypogona... |
OMIM:612079 |
Solitary Rectal Ulcer Syndrome |
|
Anal fissure, Rectal prolapse, Stercoral ulcer, Hematochezia, Anemia |
ORPHA:209964 |
Alkaptonuria |
|
Joint dislocation, Mitral valve calcification, Abnormal heart valve morphology, Coronary artery c... |
ORPHA:56 |
Liver Disease, Severe Congenital |
|
Chronic gastritis, Dry hair, Micrognathia, Biliary hyperplasia, Cardiomegaly, Abnormal left ventr... |
OMIM:619991 |
Coccidioidomycosis |
|
Abnormality of the spleen, Abnormality of the liver, Broad ribs, Abnormality of the kidney, Abnor... |
ORPHA:228123 |
Mosaic Trisomy 8 |
|
Decreased testicular size, Short stature, Camptodactyly of finger, Short neck, Micrognathia, Cryp... |
ORPHA:96061 |
Stickler Syndrome |
|
Joint dislocation, Skeletal muscle atrophy, Micrognathia, Hypoplasia of the maxilla, Osteoarthrit... |
ORPHA:828 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Intestinal malrotation, Brachiocephalic artery an... |
OMIM:613834 |
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors |
|
Euthyroid multinodular goiter, Papillary thyroid carcinoma |
OMIM:138800 |
Radial Aplasia, X-Linked |
|
Absent radius, Hydrocephalus, Penile hypospadias, Anal atresia |
OMIM:312190 |
Desbuquois Dysplasia 2 |
|
Dental crowding, Short neck, Synophrys, Pectus carinatum, Knee dislocation, Narrow chest, Bifid u... |
OMIM:615777 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Inguinal hernia, Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar emi... |
OMIM:211960 |
Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Lipoatrophy, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Abnormality of th... |
ORPHA:276280 |
Mucolipidosis Type Ii |
|
Dry hair, White hair, Knee flexion contracture, Narrow chest, Patent foramen ovale, Telangiectase... |
ORPHA:576 |
Gurrieri Syndrome |
|
Decreased anterioposterior diameter of lumbar vertebral bodies, Hypoplastic acetabulae, Delayed s... |
OMIM:601187 |
Platyspondylic Dysplasia, Torrance Type |
|
Short palm, Hypoplastic scapulae, Polyhydramnios, Micromelia, Short thorax, Abnormal carpal morph... |
ORPHA:85166 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Short stature, Recurrent fractures, Polyhydramnios, Micrognathia, Short ... |
ORPHA:1486 |
Crouzon Syndrome |
|
Mandibular prognathia, Dental crowding, Sagittal craniosynostosis, Hypoplasia of the maxilla, Hyd... |
OMIM:123500 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... |
OMIM:620303 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Micrognathia, Microcytic anemia, Pectus carinatum, Gastroesophageal reflux, Narrow chest, Hepatic... |
OMIM:619525 |
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome |
|
Thin upper lip vermilion, Short stature, Short thumb, Short toe, Upper limb muscle weakness, Shor... |
ORPHA:370010 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Cortical Dysplasia, Complex, With Other Brain Malformations 15 |
|
Thin upper lip vermilion, Thick eyebrow, Hypoplasia of the maxilla, Synophrys, Optic atrophy, Smo... |
OMIM:618737 |
Pseudoxanthoma Elasticum |
|
Accelerated atherosclerosis, Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failu... |
OMIM:264800 |
Hypomandibular Faciocranial Dysostosis |
|
Recurrent respiratory infections, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Polyhydramn... |
ORPHA:1790 |
Saethre-Chotzen Syndrome |
|
Proximal radio-ulnar synostosis, Short stature, Craniosynostosis, Hyperlordosis, Hypoplasia of th... |
ORPHA:794 |
Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Platyspondyly, Genu valgum |
OMIM:184095 |
Blepharochalasis And Double Lip |
|
Blepharochalasis, Duplication of the upper lip, Goiter |
OMIM:109900 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Pectus carinatum, Broad ribs, Rhizomelia, Hypoplasia of the... |
ORPHA:239 |
Carpenter Syndrome 2 |
|
Short neck, Bilateral cryptorchidism, High, narrow palate, Low anterior hairline, Pectus carinatu... |
OMIM:614976 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Severe short stature, Delayed skeletal maturation, Abnormal rib... |
ORPHA:2643 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal cyst, Abnormal systemic arterial morphology, Decreased glomerular filtration rate, Pyelonep... |
ORPHA:730 |
Thyroid Lymphoma |
|
Hyperthyroidism, Lymphadenopathy, Dysphagia, Hypothyroidism, Hashimoto thyroiditis, Goiter |
ORPHA:97285 |
Thyroid Hormone Plasma Membrane Transport Defect |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:188560 |
Deiodinase, iodothyronine, type I |
|
Euthyroid hyperthyroxinemia, Goiter |
OMIM:147892 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Exocrine pancreatic insufficiency, Lobar holoprosencephaly, Growth delay, Age... |
OMIM:618500 |
Radial-Renal Syndrome |
|
Short stature, Unilateral renal agenesis, Absent thumb, Absent radius, Ectopic kidney |
OMIM:179280 |
Sirenomelia |
|
Absence of the sacrum, Spina bifida, Renal hypoplasia/aplasia, Tracheoesophageal fistula, Sirenom... |
ORPHA:3169 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Short stature, Rhizomelia, Hydrocephalus, Thin ribs, Platyspondyly, Hypoplasia ... |
OMIM:300863 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Otosclerosis, Biconcave flattened vertebrae, Recurrent fractures, Mitral valve prolap... |
OMIM:166200 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Atrial septal defect, Keloids, Ventricular septal defect, Scoliosis |
ORPHA:357225 |
Neurofibromatosis, Type I |
|
Short stature, Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Pectus excavatum, Hydrocephal... |
OMIM:162200 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Lumbar hyperlordosis, Cupped ribs, Disproportionate short stature, Mesomelic arm shortening, Flat... |
OMIM:609616 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Craniosynostosis, Cryptorchidism, Hydrocephalus, Abnormality of the pancreas, Optic atrophy, Narr... |
ORPHA:1555 |
Sarcoidosis |
|
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Nephrocal... |
ORPHA:797 |
Pseudoachondroplasia |
|
Genu recurvatum, Limited hip extension, Spatulate ribs, Osteoarthritis, Delayed epiphyseal ossifi... |
OMIM:177170 |
Spastic Paraplegia 16, X-Linked |
|
Facial hypotonia, Urinary incontinence, Hypoplasia of the maxilla, Lower limb amyotrophy, Urinary... |
OMIM:300266 |
Mosaic Variegated Aneuploidy Syndrome 3 |
|
Short stature, Cleft palate, Horseshoe kidney, Growth delay, Arthrogryposis multiplex congenita, ... |
OMIM:617598 |
Spondyloepiphyseal Dysplasia, Kimberley Type |
|
Proportionate short stature, Micromelia, Osteoarthritis, Short thorax, Platyspondyly |
ORPHA:93283 |
Carney Complex |
|
Neoplasm of the stomach, Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma... |
ORPHA:1359 |
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations |
|
Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot |
OMIM:601322 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Short stature, Protrusio acetabuli, Ankle flexion contracture, Kyp... |
OMIM:259450 |
Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Ovoid vertebral bodies, Abnormality of the vertebral endplates, Dispropor... |
ORPHA:1856 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Thenar muscle atrophy, Moderately short stature, Flexion contracture, Platyspondyly, ... |
ORPHA:157965 |
Gaucher Disease |
|
Joint dislocation, Osteopenia, Osteoarthritis, Bone pain, Hydrops fetalis, Cherry red spot of the... |
ORPHA:355 |
Neural Tube Defects, Susceptibility To |
|
Absence of the sacrum, Sacral dimple, Urinary incontinence, Asymmetry of spinal facet joints, Hyd... |
OMIM:182940 |
Megalencephaly |
|
Atrial septal defect, Short neck, Delayed skeletal maturation, Long penis, Genu valgum, Macroorch... |
ORPHA:2477 |
Townes-Brocks Syndrome 2 |
|
Hypospadias, Rectovaginal fistula, Scoliosis, Vesicoureteral reflux, Crossed fused renal ectopia,... |
OMIM:617466 |
Hamamy Syndrome |
|
Osteopenia, Prolonged QRS complex, Micrognathia, Microcytic anemia, High palate, Atrial septal de... |
OMIM:611174 |
Coffin-Siris Syndrome 5 |
|
Thin upper lip vermilion, Sparse scalp hair, Thick eyebrow, Short stature, Thick lower lip vermil... |
OMIM:616938 |
Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Hypospadias, Pulmonary artery sling, Coronary sinus enlargement, Micrognathia,... |
OMIM:619268 |
Ollier Disease |
|
Micromelia, Joint stiffness, Precocious puberty, Bone pain, Osteolysis, Platyspondyly, Lymphangio... |
ORPHA:296 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Delayed skeletal... |
OMIM:184252 |
46,Xx Sex Reversal 5 |
|
Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo... |
OMIM:618901 |
Bent Bone Dysplasia Syndrome 2 |
|
Osteopenia, Hepatomegaly, Short neck, Short tibia, Short 1st metacarpal, Hypoplastic acetabulae, ... |
OMIM:620076 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Goiter |
OMIM:600791 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail... |
ORPHA:139507 |
8Q22.1 Microdeletion Syndrome |
|
Sparse eyelashes, Camptodactyly of finger, Craniosynostosis, Short neck, Hypoplasia of the maxill... |
ORPHA:178303 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Increased density of long bones, Short neck, Hypoplasia of first ribs, Atrial septal defect, Hepa... |
OMIM:269150 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Genital edema, Predominantly lower limb lymphedema, Ankle swelling, Edema of the dorsum of hands,... |
ORPHA:568051 |
Meckel Syndrome, Type 7 |
|
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Portal hypertension, Pa... |
OMIM:267010 |
Cerebrocostomandibular Syndrome |
|
Multicystic kidney dysplasia, Ventricular septal defect, Short stature, Spina bifida, Micrognathi... |
ORPHA:1393 |
Ventricular Septal Defect 3 |
|
Pulmonary artery stenosis, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Pedal edema, S... |
OMIM:126320 |
Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive |
|
Lumbar hyperlordosis, Short stature, Enlarged joints, Micrognathia, Recurrent pneumonia, Flexion ... |
OMIM:215150 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Optic nerve hypoplasia, Highly arched eyebrow, Micrognathia, Hypoplasia of... |
OMIM:620157 |
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome |
|
Short stature, Aplasia/Hypoplasia of the fibula, Growth delay, Short foot, Aplasia/Hypoplasia of ... |
ORPHA:52056 |
Geroderma Osteodysplastica |
|
Mandibular prognathia, Severe short stature, Recurrent fractures, Vertebral compression fracture,... |
ORPHA:2078 |
Osteoglophonic Dysplasia |
|
Mandibular prognathia, Osteopenia, Short neck, Hypoplasia of the maxilla, Short metatarsal, Erupt... |
OMIM:166250 |
Leopard Syndrome 1 |
|
Mandibular prognathia, Bundle branch block, Limited elbow movement, Short neck, Pectus carinatum,... |
OMIM:151100 |
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Short neck, Delayed epiphyseal ossification, Rhizo-meso-acromelic limb shortening, Flexion contra... |
OMIM:611717 |
Pendred Syndrome |
|
Hyperparathyroidism, Thyroid carcinoma, Nephropathy, Hypothyroidism, Goiter |
ORPHA:705 |
Craniorachischisis |
|
Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal... |
ORPHA:63260 |
Acces Syndrome |
|
Recurrent respiratory infections, Sparse scalp hair, Supernumerary nipple, Hip dislocation, Trach... |
OMIM:619959 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Absence of pectoralis minor muscle, Patellar... |
OMIM:161200 |
Noonan Syndrome 11 |
|
Short stature, Pectus excavatum, Thick vermilion border, Pulmonic stenosis, Atrial septal defect,... |
OMIM:618499 |
Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Complete atrioventricular cana... |
OMIM:619142 |
Goiter, Multinodular 2 |
|
Euthyroid multinodular goiter |
OMIM:300273 |
Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmona... |
OMIM:610655 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Short philtrum, Lower limb undergrowth, Thick upper lip vermilion, ... |
OMIM:186500 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Disc-like vertebral bodies, Rhizomelia, Ovoid vertebral bodies, Polyhydramnios, Short neck, Micro... |
OMIM:151210 |
Chromosome 17P13.1 Deletion Syndrome |
|
Short neck, High, narrow palate, Synophrys, Low anterior hairline, Knee flexion contracture, High... |
OMIM:613776 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl... |
OMIM:618748 |
Achondrogenesis, Type Ia |
|
Polyhydramnios, Beaded ribs, Short neck, Abnormal hand bone ossification, Micromelia, Hydrops fet... |
OMIM:200600 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Short statu... |
ORPHA:1307 |
Mohr Syndrome |
|
Short palm, Median cleft lip, Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of... |
OMIM:252100 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypoplasia of the tongue, ... |
ORPHA:2759 |
Spondyloocular Syndrome |
|
Osteopenia, Unilateral cryptorchidism, Duodenal ulcer, Short stature, Abnormality of the dentitio... |
OMIM:605822 |
Craniolenticulosutural Dysplasia |
|
Delayed eruption of teeth, Brittle hair, Short stature, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:50814 |
Enthesitis-Related Juvenile Idiopathic Arthritis |
|
Back pain, Knee osteoarthritis, Enthesitis, Abnormal shoulder morphology, Abnormality of the wris... |
ORPHA:85438 |
Meckel Syndrome, Type 4 |
|
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Renal cyst, Cl... |
OMIM:611134 |
Fibrochondrogenesis 2 |
|
Micrognathia, Cupped ribs, Bell-shaped thorax, Platyspondyly, Short ribs, Malar flattening, Thora... |
OMIM:614524 |
Buratti-Harel Syndrome |
|
Dilation of Virchow-Robin spaces, Hypospadias, Cryptorchidism, Velopharyngeal insufficiency, Recu... |
OMIM:619314 |
Multiple Synostoses Syndrome 2 |
|
Vertebral fusion, Tarsal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symp... |
OMIM:610017 |
Osteogenesis Imperfecta, Type Ii |
|
Recurrent fractures, Nonimmune hydrops fetalis, Beaded ribs, Multiple prenatal fractures, Absent ... |
OMIM:166210 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Neonatal death, Atrial septal defect, Dystrophic fingernails, Absent eyebrow, Multicyst... |
OMIM:308205 |
Congenital Aortic Valve Stenosis |
|
Thoracic aortic aneurysm, Angina pectoris, Sudden cardiac death, Aortic valve calcification, Aort... |
ORPHA:3093 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Sacral dimple, Tarsal synostosis, Joint stiffness, Abnormal form of the vertebral bodies, Posteri... |
ORPHA:2064 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Patent ductus arteriosus,... |
ORPHA:2095 |
Amish Lethal Microcephaly |
|
Hepatomegaly, Cleft soft palate, Spina bifida, Micrognathia, Limitation of joint mobility, Optic ... |
ORPHA:99742 |
Meier-Gorlin Syndrome 3 |
|
Micrognathia, Hypoplasia of the maxilla, Patellar hypoplasia, Gastroesophageal reflux, Narrow che... |
OMIM:613803 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Tachycardia, Hyperthyroidism, Rhabdomyolysis, Palpitations, Goiter |
OMIM:188580 |
Meningioma |
|
Back pain, Decreased circulating cortisol level, Urinary incontinence, Reduced circulating prolac... |
ORPHA:2495 |
Elsahy-Waters Syndrome |
|
Mandibular prognathia, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Anteriorly... |
OMIM:211380 |
Von Hippel-Lindau Disease |
|
Back pain, Myocardial infarction, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Upper lim... |
ORPHA:892 |
Familial Congenital Mirror Movements |
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Fused cervical vertebrae, Agenesis of corpus callosum, Hypogonadotropic hypogonadism |
ORPHA:238722 |
Grant Syndrome |
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Joint dislocation, Short stature, Micrognathia, Open bite, Abnormal rib morphology, Decreased sku... |
ORPHA:2097 |
Thauvin-Robinet-Faivre Syndrome |
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Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal defect, Renal cyst,... |
OMIM:617107 |
Lipodystrophy, Familial Partial, Type 7 |
|
Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Orthostatic hy... |
OMIM:606721 |
Neonatal Marfan Syndrome |
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Tricuspid regurgitation, Lipoatrophy, Micrognathia, High, narrow palate, Abnormal cardiac ventric... |
ORPHA:284979 |
Genitopatellar Syndrome |
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Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Shor... |
ORPHA:85201 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Multicentric femoral head ossification, Hypoplastic scapulae, Short stature,... |
OMIM:607326 |
Noonan Syndrome 3 |
|
Juvenile myelomonocytic leukemia, Ventricular septal defect, Short stature, Sagittal craniosynost... |
OMIM:609942 |
Hall-Riggs Syndrome |
|
Delayed eruption of teeth, Short stature, Abnormal dental enamel morphology, Thick hair, Joint st... |
ORPHA:2107 |
Osteogenesis Imperfecta, Type Xvi |
|
Microretrognathia, Multiple rib fractures, Osteopenia, Prolonged bleeding time, Short stature, Rh... |
OMIM:616229 |
Hartsfield Syndrome |
|
Median cleft lip, Hypospadias, Craniosynostosis, Alobar holoprosencephaly, Cleft upper lip, Crypt... |
OMIM:615465 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Lateral clavi... |
OMIM:600920 |
15Q14 Microdeletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Short stature, Abnormality of the dentition, Kyphosis... |
ORPHA:261190 |
Geroderma Osteodysplasticum |
|
Mandibular prognathia, Osteopenia, Hyperextensibility of the finger joints, Severe short stature,... |
OMIM:231070 |
Atrial Septal Defect 2 |
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Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Polyhydramnios, Micrognathi... |
OMIM:216340 |
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome |
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Delayed eruption of teeth, Short stature, Osteoporosis, Platyspondyly, Short philtrum, Dentinogen... |
ORPHA:71267 |
3Q29 Microduplication Syndrome |
|
Ventricular septal defect, Craniosynostosis, Short neck, Abnormality of the dentition, Deep philt... |
ORPHA:251038 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Vertebral fusion, Abnormality of the kidney, Unilateral renal agenesis, Ectopic kidney, Abnormal ... |
ORPHA:3109 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Sinusitis, Micrognathia, High palate, Atrial septal defect, Abnormal dental pulp morphology, Subc... |
ORPHA:363700 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Joint laxity, Hypoplasia of the ulna, Short stature, Short neck, Multiple joint dislocation, Hip ... |
OMIM:618395 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Purpura, Abnormal cerebral vascular morphology, Pulmonary embolism |
ORPHA:745 |
17Q12 Microduplication Syndrome |
|
Polyhydramnios, Synophrys, Tracheoesophageal fistula, Cleft palate, Atrial septal defect, Abnorma... |
ORPHA:261272 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Ulnar deviation of the wrist, Epiphyseal stippling o... |
ORPHA:56305 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... |
ORPHA:743 |
Thoracic Outlet Syndrome |
|
Varicose veins, Abnormal rib morphology, Edema |
ORPHA:97330 |
Temple-Baraitser Syndrome |
|
Downturned corners of mouth, Wide mouth, Thick vermilion border, Gastroesophageal reflux, Pulmoni... |
OMIM:611816 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Cryptorchidism, Hypo... |
ORPHA:3282 |
Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Intracranial hemorrhage, Inflammati... |
ORPHA:906 |
Glutaric Aciduria Iii |
|
Glutaric aciduria, Hyperthyroidism, Hypertension, Goiter |
OMIM:231690 |
Split Cord Malformation |
|
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Renal dupl... |
ORPHA:573278 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Osteopenia, Hepatomegaly, Osteomyelitis, Neutrophilia, Splenomegaly, Osteolysis, Fused cervical v... |
OMIM:612852 |
Transketolase Deficiency |
|
Increased level of ribose in urine, Hepatomegaly, Atrial septal defect, Ventricular septal defect... |
ORPHA:488618 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Lumbar hyperlordosis, Anterior rib cupping, Irregular vertebral endplates, Platyspondyly, Osteosc... |
ORPHA:174 |
Crimean-Congo Hemorrhagic Fever |
|
Bundle branch block, Stiff neck, Abnormal left ventricular function, Leukopenia, Cholecystitis, E... |
ORPHA:99827 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Barrel-shaped chest, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the ... |
OMIM:184100 |
Spondyloperipheral Dysplasia |
|
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Short stature, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, At... |
ORPHA:79113 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia... |
OMIM:194080 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Micromelia, Pectus excavatum, Limited elbow extensi... |
OMIM:608728 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Reticulocytosis, Anuria, Myocardial infarction, Intestinal perforation, Thrombocytopenia, Periton... |
ORPHA:90038 |
Neurocardiofaciodigital Syndrome |
|
Dilated fourth ventricle, Optic disc pallor, Atrial septal defect, Short stature, Sparse eyebrow,... |
OMIM:619869 |
Cystic Fibrosis |
|
Hepatomegaly, Meconium ileus, Recurrent bronchopulmonary infections, Rectal prolapse, Recurrent p... |
OMIM:219700 |
Gitelman Syndrome |
|
Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubulointerstitial nephriti... |
ORPHA:358 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormality of the knee, Severe short stature, Cleft soft palate, Kyphoscoliosis, Micrognathia, P... |
ORPHA:93316 |
Mckusick-Kaufman Syndrome |
|
Hydroureter, Aganglionic megacolon, Congenital hip dislocation, Edema, Cryptorchidism, Pedal edem... |
OMIM:236700 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Polyhydramnios, Micrognathia, Short neck, High, narrow ... |
OMIM:208150 |
Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Severe short stature, Aganglionic megacolon, Carious teeth, Patent ductus arte... |
ORPHA:1051 |
Lumbar Syndrome |
|
Renal agenesis, Hypospadias, Spina bifida, Cryptorchidism, Myelomeningocele, Ectopic anus, Vesico... |
ORPHA:83628 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Increased circulating free T4 concentra... |
OMIM:613239 |
Monosomy 13Q14 |
|
Abnormality of the gastrointestinal tract, Aplasia/Hypoplasia of the thumb, Short stature, Microg... |
ORPHA:1587 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Aplasia/hypoplasia of the extremities, Generalized joint laxity, Multiple joint dislocation, Dela... |
ORPHA:93360 |
Isolated Exencephaly |
|
Anterior pituitary hypoplasia, Maternal diabetes, Polyhydramnios, Abnormal facial skeleton morpho... |
ORPHA:563612 |
Holt-Oram Syndrome |
|
Hypoplasia of the ulna, Thoracic scoliosis, Short humerus, Ventricular septal defect, Aplasia of ... |
OMIM:142900 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
|
Hypoplasia of the maxilla, Hydrocephalus, Broad eyebrow, Synophrys |
OMIM:618302 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Kyphosis, Gastrointestinal dysmotility, Axonal degeneration, Abnormal sensory nerv... |
ORPHA:88628 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Bone pain, Thyroid carcinoma, Patchy reduction of bone mineral dens... |
ORPHA:249 |
Eisenmenger Syndrome |
|
Ventricular tachycardia, Pedal edema, Aortopulmonary window, Iron deficiency anemia, Abnormality ... |
ORPHA:97214 |
Lymphedema-Distichiasis Syndrome |
|
Glomerulopathy, Recurrent urinary tract infections, Diabetes mellitus, Proteinuria, Predominantly... |
ORPHA:33001 |
Nablus Mask-Like Facial Syndrome |
|
Short neck, Hypoplasia of the maxilla, Low anterior hairline, High palate, Sparse hair, Micropeni... |
OMIM:608156 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Glossitis, Hepatomegaly, Thin upper lip vermilion, Pancytopenia, Short stature, Dextrocardia, Sto... |
OMIM:277380 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Urinary incontinence, Vascular granular osmiophilic material deposition, Lacunar stroke, Varicose... |
OMIM:125310 |
Beta-Ureidopropionase Deficiency |
|
Anal atresia, Bladder exstrophy, Scoliosis |
OMIM:613161 |
Melnick-Needles Syndrome |
|
Obtuse angle of mandible, Anterior concavity of thoracic vertebrae, Micrognathia, Coarse hair, Na... |
OMIM:309350 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Intrauter... |
OMIM:620327 |
Familial Visceral Myopathy |
|
Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Micrognathia, J... |
ORPHA:2604 |
Bruck Syndrome 2 |
|
Osteopenia, Inguinal hernia, Wormian bones, Short stature, Flexion contracture, Elbow flexion con... |
OMIM:609220 |
Zechi-Ceide Syndrome |
|
Mandibular prognathia, Thick hair, Cleft lip, Short metatarsal, Cleft palate, Abnormal heart morp... |
ORPHA:217017 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Limited hip extension, Polyhydramnios, Short femur, Hydrocephal... |
OMIM:100800 |
Penoscrotal Transposition |
|
Renal agenesis, Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition,... |
ORPHA:2842 |
Alazami Syndrome |
|
Postnatal growth retardation, Sparse eyebrow, Wide mouth, Short philtrum, Widely spaced teeth, Sc... |
ORPHA:319671 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pericallosal lipoma, Sparse eyelashes, Camptodactyly of finger, Hypoplasia of the maxilla, Sparse... |
ORPHA:306542 |
Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Postnatal growth retardation, Adrenocortic... |
ORPHA:1435 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Mandibular prognathia, Osteopenia, Thoracic kyphosis, Neutropenia, Lumbar interpedicular narrowin... |
OMIM:271510 |
Unilateral Polymicrogyria |
|
Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Pseudobulbar paralysi... |
ORPHA:268943 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal h... |
OMIM:154500 |
Phakomatosis Pigmentokeratotica |
|
Spina bifida, Rhabdomyosarcoma, Precocious puberty, Cryptorchidism, Lymphedema, Raynaud phenomeno... |
ORPHA:2874 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Dysphagia, Abnormal liver parenchyma morphology, Neoplasm of the lun... |
ORPHA:1332 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive |
|
Hip osteoarthritis, Platyspondyly, Osteoarthritis, Short stature |
OMIM:271600 |
Rothmund-Thomson Syndrome, Type 2 |
|
Mandibular prognathia, Congenital hip dislocation, Micrognathia, Anteriorly placed anus, Prematur... |
OMIM:268400 |
Thymic Carcinoma |
|
Palpebral edema, Edema, Neoplasm of the thymus, Mediastinal lymphadenopathy, Abnormal vena cava m... |
ORPHA:99868 |
Smith-Mccort Dysplasia 2 |
|
Mandibular prognathia, Barrel-shaped chest, Enlarged interphalangeal joints, Short metacarpal, Sh... |
OMIM:615222 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Short distal phalanx of toe, Micrognathia, Precocious puberty, Delayed eruption of permanent teet... |
OMIM:619356 |
Chromosome 15Q14 Deletion Syndrome |
|
Tented upper lip vermilion, Ventricular septal defect, Highly arched eyebrow, Cleft lip, Cleft pa... |
OMIM:616898 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Tachycardia, Proteinuria, Vulval varicose vein, Hematuria, Varicose vein... |
ORPHA:71273 |
Craniofacial-Deafness-Hand Syndrome |
|
Ulnar deviation of the wrist, Camptodactyly of finger, Hypoplasia of the maxilla, Narrow mouth, A... |
ORPHA:1529 |
Progressive Pseudorheumatoid Dysplasia |
|
Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscoliosis, Joint stif... |
OMIM:208230 |
Developmental And Epileptic Encephalopathy 90 |
|
Fetal pyelectasis, Ankle clonus, Atrial septal defect, Hypothyroidism, Limb hypertonia |
OMIM:301058 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Thin upper lip vermilion, Diabetes melli... |
ORPHA:456312 |
Hydrolethalus Syndrome 1 |
|
Polyhydramnios, Micrognathia, Abnormal lung lobation, Severe hydrocephalus, Agenesis of corpus ca... |
OMIM:236680 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Ventricular septal defect, Avascular necrosis of the capital femoral epiphysis, Pyloric stenosis,... |
OMIM:614262 |
Cole-Carpenter Syndrome |
|
Communicating hydrocephalus, Delayed eruption of teeth, Short stature, Abnormal dental enamel mor... |
ORPHA:2050 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Short stature, Anal fissure, Perianal abscess, Splenomegaly... |
OMIM:618935 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Renal hypoplasia/aplasia, Joint ... |
ORPHA:2167 |
Osteogenesis Imperfecta, Type Xv |
|
Short stature, Recurrent fractures, Thin ribs, Platyspondyly, Bowing of limbs due to multiple fra... |
OMIM:615220 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Short proximal phalanx of the 5th finger, Thin upper lip vermilion, Sacral dimple, Short stature,... |
ORPHA:261323 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Short neck, Micrognathia, Pectus carinatum, Knee flexion contracture, Abnormal calcif... |
OMIM:271665 |
Retinitis Pigmentosa With Or Without Skeletal Anomalies |
|
Short metacarpal, Ventricular septal defect, Short stature, Craniosynostosis, Micrognathia, Spars... |
OMIM:250410 |
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... |
OMIM:175050 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Osteopenia, Xerostomia, Downturned corners of mouth, Premature adrenarche, Micropenis, Hypothalam... |
ORPHA:398079 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Lumbar hyperlordosis, Short stature, Proportionate short stature, Dist... |
OMIM:156500 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Decreased muscle mass, Short stature, Recurrent fractures, Kyphoscoliosis, Intraven... |
OMIM:616507 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Barrel-shaped chest, Lumbar hyperlordosis, Short neck, Postnatal growth retardation, K... |
OMIM:313400 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Carious teeth, Narrow mouth, Esophage... |
ORPHA:89842 |
Radio-Renal Syndrome |
|
Multicystic kidney dysplasia, Severe short stature, Renal agenesis, Micromelia, Short neck, Renal... |
ORPHA:3015 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Acute tubulointerstitial nephritis, Intracranial hemorrhage, Tubulointerstitia... |
ORPHA:340 |
Nevus Comedonicus Syndrome |
|
Spina bifida, Abnormal hair morphology, Scoliosis, Spina bifida occulta, Abnormal vertebral morph... |
ORPHA:64754 |
Rapp-Hodgkin Syndrome |
|
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Hypospadias, Sho... |
OMIM:129400 |
Angelman Syndrome |
|
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Wide mouth, Macroglossia, Wi... |
OMIM:105830 |
Ear-Patella-Short Stature Syndrome |
|
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Epispadias, High, narrow palate, Bi... |
ORPHA:2554 |
Neurocutaneous Melanocytosis |
|
Renal hypoplasia/aplasia, Meningocele, Intracranial hemorrhage, Chorioretinal coloboma, Dandy-Wal... |
ORPHA:2481 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Duplicated collecting system, Joint laxity, Inguinal hernia, Curly hair, Ventricular septal defec... |
OMIM:607721 |
Short Stature, Developmental Delay, And Congenital Heart Defects |
|
Ventricular septal defect, Proportionate short stature, Patent ductus arteriosus, Atrial septal d... |
OMIM:617044 |
Renal Hypodysplasia/Aplasia 3 |
|
Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r... |
OMIM:617805 |
Immunodeficiency 87 And Autoimmunity |
|
Atrophic gastritis, Villous atrophy, Atrial septal defect, Atrioventricular canal defect, Hepatic... |
OMIM:619573 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Thin upper lip vermilion, Frontal encephalocele, Downturned corners of mouth, Atrial septal defec... |
ORPHA:521308 |
Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Micrognathia, Oral-pharyngeal dysphagia, H... |
ORPHA:506358 |
Carney Complex, Type 1 |
|
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Schwannoma,... |
OMIM:160980 |
Vici Syndrome |
|
Micrognathia, Albinism, Leukopenia, T lymphocytopenia, Abnormal thymus morphology, High palate, N... |
OMIM:242840 |
Joubert Syndrome 3 |
|
Enlarged fossa interpeduncularis, Highly arched eyebrow, Stage 5 chronic kidney disease, Lateral ... |
OMIM:608629 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Severe short stature, Rhizomelia, Short femur, Hypoplasia of the femoral head, Lim... |
OMIM:619598 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Sparse hair, Agenesis of corpus callosum, Abnormal vertebral morphology, Absent eyebrow, Alopecia... |
ORPHA:2273 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Natal tooth, Hypospadias, Craniosynostosis, Hydrocephalus, Limited elbow extension, Optic atrophy... |
OMIM:123790 |
Pelvic Organ Prolapse, Susceptibility To |
|
Rectal prolapse |
OMIM:176780 |
Waardenburg Syndrome, Type 1 |
|
Mandibular prognathia, Thick eyebrow, White eyelashes, White eyebrow, Spina bifida, Myelomeningoc... |
OMIM:193500 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Inguinal hernia, Prominent metopic ridge, Hypospadias, Supernumerary nipple, Secundum atrial sept... |
OMIM:618109 |
Oculodentodigital Dysplasia |
|
Dry hair, Selective tooth agenesis, High palate, Joint contracture of the 5th finger, Microdontia... |
OMIM:164200 |
Autosomal Recessive Distal Osteolysis Syndrome |
|
Short stature, Abnormality of the dentition, Hypoplasia of the maxilla, Osteolysis, Short distal ... |
ORPHA:2776 |
Multiple Endocrine Neoplasia, Type Iia |
|
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Elevated urinary norepine... |
OMIM:171400 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Dental crowding, Polyhydramnios, Short neck, Micrognathia, Cleft hard palate, Synophrys, Nephroca... |
OMIM:300990 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency |
|
Diffuse mesangial sclerosis, Hepatomegaly, Adrenal cortical sclerosis, Sinusitis, Aplasia of the ... |
OMIM:102700 |
Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, S... |
OMIM:618022 |
Bone Marrow Failure Syndrome 3 |
|
Congenital hip dislocation, Aplastic anemia, Micrognathia, Pancreatic steatosis, Oral ulcer, Redu... |
OMIM:617052 |
Acrocephalopolydactylous Dysplasia |
|
Hypoplastic colon, Hepatomegaly, Omphalocele, Pancreatic fibrosis, Craniosynostosis, Short neck, ... |
OMIM:200995 |
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures |
|
Prolonged QT interval, Thin upper lip vermilion, Anal stenosis, Sparse scalp hair, Optic nerve hy... |
OMIM:620029 |
Knobloch Syndrome 1 |
|
Duplicated collecting system, Occipital encephalocele, Optic disc pallor, Joint hypermobility, Py... |
OMIM:267750 |
Combined Immunodeficiency-Enteropathy Spectrum |
|
Polyhydramnios, Hypoplasia of the thymus, Sparse hair, Hashimoto thyroiditis, Peritoneal abscess,... |
ORPHA:436252 |
Mesomelic Dysplasia, Kantaputra Type |
|
Short stature, Camptodactyly of finger, Tarsal synostosis, Abnormal rib morphology, Vertebral seg... |
ORPHA:1836 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
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Atrial fibrillation, Ventricular septal defect, Left ventricular hypertrophy, Secundum atrial sep... |
OMIM:108900 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
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Skeletal muscle atrophy, Streak ovary, Abnormal peripheral myelination, Increased circulating gon... |
ORPHA:168563 |
Shprintzen Omphalocele Syndrome |
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Omphalocele, Lumbar hyperlordosis, Short stature, Kyphosis, Thin vermilion border, Narrow chest, ... |
OMIM:182210 |
White-Kernohan Syndrome |
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Joint laxity, Thin upper lip vermilion, Hydroureter, Tented upper lip vermilion, Dysplastic corpu... |
OMIM:619426 |
Osteopetrosis With Renal Tubular Acidosis |
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Micrognathia, Cranial nerve compression, Leukopenia, High palate, Prominence of the zygomatic bon... |
ORPHA:2785 |
Spondylometaphyseal Dysplasia, Pagnamenta Type |
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Rhizomelia, Delayed skeletal maturation, Platyspondyly, Thoracic kyphosis, Wormian bones, Short 4... |
OMIM:619638 |
Clapo Syndrome |
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Lymphedema, Pectus excavatum, Varicose veins, Capillary malformation of the lip, Narrow chest, Ly... |
ORPHA:168984 |
Dyskeratosis Congenita, X-Linked |
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Premature graying of hair, Leukopenia, Premature loss of teeth, Pterygium, Alopecia, Hypospadias,... |
OMIM:305000 |
Sacral Agenesis With Vertebral Anomalies |
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Absence of the sacrum, Unilateral renal agenesis, Vertebral clefting, Neonatal death, Abnormal ve... |
OMIM:615709 |
Relapsing Polychondritis |
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Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Pericarditis, Proteinuria, ... |
ORPHA:728 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
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Gastrointestinal hemorrhage, Joint dislocation, Inguinal hernia, Congenital hip dislocation, Dent... |
OMIM:225400 |
Li-Fraumeni Syndrome |
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Neoplasm of the pancreas, Renal neoplasm, Acute myeloid leukemia, Testicular neoplasm, Rhabdomyos... |
ORPHA:524 |
Meckel Syndrome, Type 6 |
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Absent gallbladder, Occipital encephalocele, Cleft upper lip, Hydrocephalus, Bilobed right lung, ... |
OMIM:612284 |
Pmm2-Cdg |
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Mandibular prognathia, Osteopenia, Multiple joint contractures, Lymphedema, Elevated circulating ... |
ORPHA:79318 |
Fibular Hemimelia |
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Increased laxity of ankles, Foot oligodactyly, Abnormal bone ossification, Short tibia, Joint lax... |
ORPHA:93323 |
Meier-Gorlin Syndrome 4 |
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Short stature, Genu recurvatum, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Lateral ... |
OMIM:613804 |
Ataxia-Telangiectasia-Like Disorder 2 |
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Conjunctival telangiectasia, Short stature, Absent pubertal growth spurt, Congenital diaphragmati... |
OMIM:615919 |
Diamond-Blackfan Anemia 16 |
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Atrial septal defect, Anemia, Pulmonic stenosis |
OMIM:617408 |
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome |
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Anal atresia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Renal hypoplasia... |
ORPHA:2973 |
Fibrochondrogenesis |
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Omphalocele, Hypoplastic scapulae, Short stature, Camptodactyly of finger, Micromelia, Short neck... |
ORPHA:2021 |
Chromosome 8Q22.1 Duplication Syndrome |
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Enlarged interphalangeal joints, Short metacarpal, Genu recurvatum, Short stature, Interphalangea... |
OMIM:151200 |
Bdv Syndrome |
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Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... |
OMIM:619326 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
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Prolonged QT interval, Hepatomegaly, Exercise-induced rhabdomyolysis, Tachycardia, Ventricular se... |
ORPHA:26793 |
Duplication Of Urethra |
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Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Curry-Jones Syndrome |
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Bicoronal synostosis, Anal stenosis, Intestinal pseudo-obstruction, Intestinal malrotation, Lip p... |
OMIM:601707 |
Primary Sjögren Syndrome |
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Normocytic anemia, Myositis, Chronic active hepatitis, Bronchitis, Xerostomia, Tubulointerstitial... |
ORPHA:289390 |
Autosomal Recessive Spastic Paraplegia Type 23 |
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Short stature, Kyphoscoliosis, Silver-gray hair, Hip dislocation, Horseshoe kidney |
ORPHA:101003 |
Anophthalmia Plus Syndrome |
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Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, Vertebral segm... |
ORPHA:1104 |
Spondyloepimetaphyseal Dysplasia, Aggrecan Type |
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Mandibular prognathia, Barrel-shaped chest, Joint laxity, Lumbar hyperlordosis, Rhizomelia, Short... |
OMIM:612813 |
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
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Hypospadias, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Absent pulmonary artery,... |
OMIM:600460 |
Spondylospinal Thoracic Dysostosis |
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Multiple pterygia, Micrognathia, Hypoplasia of the maxilla, Short thorax, Pulmonary hypoplasia, A... |
OMIM:601809 |
Nager Syndrome |
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Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Unilateral renal agenesis, Micrognathia,... |
ORPHA:245 |
Absent Radius-Anogenital Anomalies Syndrome |
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Hydrocephalus, Rectal atresia, Hypoplasia of the radius, Perineal fistula, Rectovaginal fistula, ... |
ORPHA:3016 |
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome |
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Short distal phalanx of toe, Inguinal hernia, Short stature, Abnormal mitral valve morphology, De... |
ORPHA:1292 |
Neu-Laxova Syndrome 2 |
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Spina bifida, Micrognathia, Short neck, Edema, Polyhydramnios, Cleft palate, High palate, Scolios... |
OMIM:616038 |
Distal Deletion 19P |
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Alopecia, Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Kel... |
ORPHA:96129 |
3Mc Syndrome 3 |
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Sacral dimple, Short stature, Diastasis recti, Highly arched eyebrow, Cleft upper lip, Cryptorchi... |
OMIM:248340 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
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Joint dislocation, Knee flexion contracture, Short 5th metacarpal, Rhizomelia, Thoracolumbar scol... |
OMIM:618019 |
Craniotubular Dysplasia, Ikegawa Type |
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Short palm, Ventricular septal defect, Short stature, Optic neuropathy, Increased intervertebral ... |
OMIM:619727 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
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Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors |
ORPHA:397973 |
Mandibuloacral Dysplasia Progeroid Syndrome |
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Osteopenia, Micrognathia, Flexion contracture, High palate, Macrovesicular hepatic steatosis, Sho... |
OMIM:619127 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
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Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Hepatic fibro... |
OMIM:208500 |
Primrose Syndrome |
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Skeletal muscle atrophy, Bilateral cryptorchidism, Hypoplasia of the maxilla, Synophrys, Flexion ... |
OMIM:259050 |
Keipert Syndrome |
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Tented upper lip vermilion, Exaggerated cupid's bow, Short stature, Short hallux, Aplasia/Hypopla... |
ORPHA:2662 |
Bruck Syndrome |
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Short stature, Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoli... |
ORPHA:2771 |
Distal Deletion 6P |
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Smooth philtrum, Micrognathia, Abnormality of the dentition, Orofacial cleft, Downturned corners ... |
ORPHA:96125 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
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Cardiac arrest, Delayed eruption of primary teeth, Thyroid C cell hyperplasia, Dilated cardiomyop... |
OMIM:300952 |
Hydranencephaly |
|
Stiff neck, Optic nerve hypoplasia, Antenatal intracerebral hemorrhage, Abnormal internal carotid... |
ORPHA:2177 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Wide anterior fontanel, Hydrocephalus, Abnormal renal morphology, Flexion contracture, Humeroradi... |
OMIM:207410 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
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Osteopenia, Short fourth metatarsal, Tented upper lip vermilion, Short stature, Thoracolumbar sco... |
OMIM:616723 |
Meige Disease |
|
Predominantly lower limb lymphedema, Lymphedema, Facial edema, Edema of the dorsum of hands, Peri... |
ORPHA:90186 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Pancreatic fibrosis, Ventricular septal defect, Short stature, Polyhydramnios, Lateral clavicle h... |
OMIM:615503 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Midline central nervous system li... |
ORPHA:1827 |
Blue Rubber Bleb Nevus |
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Rectal prolapse, Iron deficiency anemia, Abnormality of the liver, Intestinal bleeding, Pathologi... |
OMIM:112200 |
Osteogenesis Imperfecta, Type Xxi |
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Barrel-shaped chest, Recurrent fractures, Pectus excavatum, Osteoporosis, Bell-shaped thorax, Pla... |
OMIM:619131 |
Thyroid Ectopia |
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Short stature, Abnormality of the thyroid gland, Jaundice, Growth delay, Macroglossia, Ectopic th... |
ORPHA:95712 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
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Recurrent joint dislocation, Inguinal hernia, Short stature, Recurrent fractures, Arterial ruptur... |
OMIM:619115 |
Hemifacial Hyperplasia |
|
Hypoplasia of the maxilla, Dental malocclusion |
OMIM:133900 |
Osteogenesis Imperfecta, Type Viii |
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Barrel-shaped chest, Osteopenia, Inguinal hernia, Joint laxity, Short metacarpal, Recurrent fract... |
OMIM:610915 |
Rhabdoid Tumor |
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Renal neoplasm, Thrombocytopenia, Lymphadenopathy, Hematuria, Neoplasm of the liver, Hypertension... |
ORPHA:69077 |
Cystic Fibrosis |
|
Osteopenia, Recurrent respiratory infections, Sinusitis, Meconium ileus, Malabsorption, Rectal pr... |
ORPHA:586 |
Bardet-Biedl Syndrome 21 |
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Hypodontia, Horseshoe kidney, Abnormality of the dentition |
OMIM:617406 |
Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
Axenfeld-Rieger Syndrome |
|
Anal stenosis, Hypospadias, Hypoplasia of the maxilla, Growth delay, Everted lower lip vermilion,... |
ORPHA:782 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa... |
ORPHA:93111 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
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Proteinuria, Microdontia, Postnatal growth retardation, Cryptorchidism, Cleft palate, Hypoplasia ... |
ORPHA:2728 |
Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Gastroin... |
OMIM:600376 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Omphalocele, Intestinal malrotation, Meningocele, Anencephaly, Renal cyst, Cleft p... |
OMIM:603194 |
Lymphatic Malformation 7 |
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Nonimmune hydrops fetalis, Edema, Lymphedema, Pericardial effusion, Facial edema, Increased nucha... |
OMIM:617300 |
Transposition Of The Great Arteries, Dextro-Looped |
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Transposition of the great arteries |
OMIM:608808 |
Spina Bifida-Hypospadias Syndrome |
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Hypospadias, Spina bifida, Spinal dysraphism |
ORPHA:3176 |
Recon Progeroid Syndrome |
|
Joint laxity, Skeletal muscle atrophy, Prominence of the premaxilla, Short stature, Dental crowdi... |
OMIM:620370 |
Muir-Torre Syndrome |
|
Renal neoplasm, Neoplasm of the stomach, Salivary gland neoplasm, Neoplasm of the liver, Adenoma ... |
ORPHA:587 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Urethral stricture, Osteopenia, Flexion contracture, Gastrointestinal inflammation, Iron deficien... |
ORPHA:79408 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Platyspondyly |
OMIM:601438 |
Celiac Artery Stenosis From Compression By Median Arcuate Ligament Of Diaphragm |
|
Celiac artery compression |
OMIM:116870 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Short stature, Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening |
ORPHA:93946 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Recurrent respiratory infections, Atrial septal defect, Ventricular septal defect, Decreased resp... |
OMIM:610978 |
Sacral Defect With Anterior Meningocele |
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Back pain, Absence of the sacrum, Neurogenic bladder, Hemisacrum, Myeloschisis, Hydrocephalus, My... |
OMIM:600145 |
Whim Syndrome |
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Abnormal small intestine morphology, Lymphopenia, Sinusitis, Severe periodontitis, Pneumonia, Res... |
ORPHA:51636 |
Familial Idiopathic Dilatation Of The Right Atrium |
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Paroxysmal atrial fibrillation, Cardiomegaly, Midsystolic murmur, Atrioventricular block, Holosys... |
ORPHA:1677 |
15q26 overgrowth syndrome |
|
Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Short ... |
DECIPHER:81 |
Hellp Syndrome |
|
Back pain, Hemolytic anemia, Generalized edema, Decreased mean corpuscular hemoglobin concentrati... |
ORPHA:244242 |
Hyperinsulinemic Hypoglycemia, Familial, 8 |
|
Short stature, Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, ... |
OMIM:620211 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Micrognathia, Pectus excavatum, Pierre-Robin sequence, A... |
OMIM:602196 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Hydrocephalus... |
OMIM:231005 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Dental crowding, Abnormal thymus morphology, Micropenis, Abnorma... |
OMIM:219000 |
Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Accelerated skele... |
ORPHA:251937 |
Marshall Syndrome |
|
Short stature, Sparse eyelashes, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dent... |
ORPHA:560 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Multicystic kidney dysplasia, Short stature, Congenital hepatic fibrosis, Meningocele, Renal cyst... |
ORPHA:2031 |
Igg4-Related Pachymeningitis |
|
Low back pain, Sinusitis, Lower limb muscle weakness, Eosinophilia, Lymphadenitis, Abnormal lung ... |
ORPHA:449427 |
Meier-Gorlin Syndrome 5 |
|
Prominent metopic ridge, Short stature, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, ... |
OMIM:613805 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Colpocephaly, Chorioretinal coloboma, ... |
OMIM:615219 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Wide cranial sutures, Short stature, Dental crowding, Sparse eyelashes... |
OMIM:257850 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Rhizomelia, Irregular sclerotic endplates, Osteoarthritis, Delayed skeletal maturation, Platyspon... |
OMIM:602111 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Unilateral renal atrophy, Torticollis, Cryptorchidism, Pyelonephritis, Varicose veins, Keloids, N... |
OMIM:314300 |
Marburg Hemorrhagic Fever |
|
Back pain, Odynophagia, Dehydration, Leukopenia, Abnormal lymphocyte morphology, Internal hemorrh... |
ORPHA:99826 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Highly arched eyebrow, Thrombocytopenia, Sacral hypertrichosis, Scoliosis, Atrial septal defect, ... |
ORPHA:457351 |
Pfeiffer Syndrome |
|
Mandibular prognathia, Shortening of all middle phalanges of the fingers, Dental crowding, Hypopl... |
OMIM:101600 |
Marshall Syndrome |
|
Thick upper lip vermilion, Short stature, Micrognathia, Absent frontal sinuses, Knee osteoarthrit... |
OMIM:154780 |
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Wide anterior fontanel, Platyspondyly, Limb undergrowth, Mesomelia... |
OMIM:601356 |
Axenfeld-Rieger Syndrome, Type 1 |
|
Thin upper lip vermilion, Anal stenosis, Hypospadias, Decreased response to growth hormone stimul... |
OMIM:180500 |
Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
Anorectal Anomalies |
|
Rectovaginal fistula, Anal atresia |
OMIM:107100 |
Holoprosencephaly 1 |
|
Short stature, Cyclopia, Adrenal hypoplasia, Alobar holoprosencephaly, Agenesis of corpus callosu... |
OMIM:236100 |
Congenital Factor X Deficiency |
|
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after dental ... |
ORPHA:328 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Severe short stature, Recurrent fractures, Carious teeth, Osteoporosis, Platyspondyly... |
OMIM:126550 |
Antley-Bixler Syndrome |
|
Camptodactyly of finger, Craniosynostosis, Recurrent fractures, Joint stiffness, Abnormal renal m... |
ORPHA:83 |
Acrofacial Dysostosis, Cincinnati Type |
|
Short stature, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Cleft palate, A... |
OMIM:616462 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Osteopenia, Proportionate short stature, Precocious puberty, Short toe, Dentinogenesis imperfecta... |
OMIM:619269 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Accelerated skeletal maturation, Myocarditis, Dela... |
ORPHA:93317 |
Erythrocytosis, Familial, 2 |
|
Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose veins, Stroke,... |
OMIM:263400 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Kyphosis, Childhood-onset short-trunk short stature, Platyspondy... |
OMIM:113500 |
Hyperthyroidism, Nonautoimmune |
|
Decreased thyroid-stimulating hormone level, Tachycardia, Hyperthyroidism, Accelerated skeletal m... |
OMIM:609152 |
Hypophosphatasia |
|
Short stature, Recurrent fractures, Craniosynostosis, Abnormality of the dentition, Abnormal rib ... |
ORPHA:436 |
Eiken Syndrome |
|
Short palm, Absence of the sacrum, Abnormal acetabulum morphology, Short stature, Delayed epiphys... |
ORPHA:79106 |
Immunodeficiency 40 |
|
Hepatomegaly, Rectal fistula, Respiratory tract infection, Recurrent pneumonia, Growth delay, T l... |
OMIM:616433 |
Liposarcoma |
|
Varicose veins, Abnormality of the kidney |
ORPHA:69078 |
Isotretinoin Embryopathy-Like Syndrome |
|
Cleft palate, Hydrocephalus, Conotruncal defect, Micrognathia |
OMIM:243440 |
Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
Pancreatic insufficiency, combined exocrine |
|
Congestive heart failure, Anasarca, Anal atresia, Exocrine pancreatic insufficiency |
OMIM:260450 |
Formiminoglutamic Aciduria |
|
Atrial septal defect, Abnormal concentration of acylcarnitine in the urine, Anemia, Megaloblastic... |
ORPHA:51208 |
Acropectorovertebral Dysplasia |
|
Camptodactyly of finger, Spina bifida, Tarsal synostosis, Pectus excavatum, High, narrow palate, ... |
ORPHA:957 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Abnormal thorax morphology, Transposition of the g... |
ORPHA:1461 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Short femur, Anterior rib cupping, Micromelia, Micrognathia, Lat... |
OMIM:211350 |
Omphalocele Syndrome, Shprintzen-Goldberg Type |
|
Omphalocele, Thin upper lip vermilion, Abnormal eyelash morphology, Downturned corners of mouth, ... |
ORPHA:3164 |
Jackson-Weiss Syndrome |
|
Mandibular prognathia, Hypoplasia of the maxilla, Short metatarsal, Abnormal palate morphology |
ORPHA:1540 |
Ulbright-Hodes Syndrome |
|
Maternal diabetes, Short neck, Micrognathia, Ovoid thoracolumbar vertebrae, High palate, Phocomel... |
ORPHA:3404 |
Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95512 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Hereditary Orotic Aciduria |
|
Recurrent respiratory infections, Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosu... |
ORPHA:30 |
Developmental And Epileptic Encephalopathy 102 |
|
Atrial septal defect, Hepatomegaly, Gastroesophageal reflux, Situs inversus totalis |
OMIM:619881 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Joint stiffness, Atelectasis... |
ORPHA:896 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
11 pairs of ribs, Short metacarpal, Rhizomelia, Short neck, Cupped ribs, Horizontal inferior bord... |
OMIM:250220 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Sheehan Syndrome |
|
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... |
ORPHA:91355 |
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis |
|
Decreased circulating cortisol level, Hemivertebrae, Anteriorly placed anus, Micropenis, Decrease... |
OMIM:201750 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Short metacarpal, Severe short stature, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Coloboma... |
ORPHA:85167 |
Acquired Purpura Fulminans |
|
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Internal hemorrhage,... |
ORPHA:49566 |
Hereditary Acrokeratotic Poikiloderma |
|
Abnormality of the urethra, Xerostomia, Gingivitis, Dystrophic fingernails, Short stature, Open b... |
ORPHA:2907 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Recurrent fractures, Aplastic clavicle, Missing ribs, Carious teeth, Kypho... |
ORPHA:2769 |
X-Linked Intellectual Disability, Porteous Type |
|
Mandibular prognathia, Short stature, Frontal balding, Hypoplasia of the maxilla, Short philtrum |
ORPHA:93945 |
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Hypospadias, Optic nerve hypoplasia, Short neck, Micrognathia, Cryptorchidism, Syn... |
ORPHA:495875 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Renal agenesis, Absence of Stensen duct, Delayed eruption of primary teet... |
OMIM:149730 |
Msh3-Related Attenuated Familial Adenomatous Polyposis |
|
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl... |
ORPHA:480536 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida |
ORPHA:1931 |
Duodenal Atresia |
|
Polyhydramnios, Abnormality of the pancreas, Annular pancreas, Abnormality of the pulmonary arter... |
ORPHA:1203 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak, Coloboma |
OMIM:167730 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger, Short distal phalanx of fi... |
OMIM:184460 |
Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
Lowe Oculocerebrorenal Syndrome |
|
Wrist swelling, Bicarbonaturia, Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight prote... |
OMIM:309000 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
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Ventricular septal defect, Short stature, Micrognathia, Esophageal atresia, Deep philtrum, Cleft ... |
OMIM:610536 |
Toriello-Lacassie-Droste Syndrome |
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Abnormal penis morphology, Hypospadias, Aganglionic megacolon, Polyhydramnios, Epispadias, Abnorm... |
ORPHA:3339 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
Norrie Disease |
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Diabetes mellitus, Remnants of the hyaloid vascular system, Venous insufficiency, Cryptorchidism,... |
ORPHA:649 |
Pseudohypoparathyroidism Type 1C |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79444 |
Cleft Lip/Palate |
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Agenesis of lateral incisor, Bilateral cleft palate, Oral-pharyngeal dysphagia, Hypoplasia of the... |
ORPHA:199306 |
Chromosome 17Q12 Duplication Syndrome |
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Facial hypotonia, Cleft soft palate, Micrognathia, Esophageal atresia, Atrial septal defect, Smoo... |
OMIM:614526 |
Craniopharyngioma |
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Neoplasm of the anterior pituitary, Myocardial infarction, Papilledema, Hypogonadotropic hypogona... |
ORPHA:54595 |
Osteoporosis-Pseudoglioma Syndrome |
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Barrel-shaped chest, Osteopenia, Ventricular septal defect, Short stature, Kyphoscoliosis, Recurr... |
OMIM:259770 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
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Hyperthyroidism, Accelerated skeletal maturation, Thyrotoxicosis with diffuse goiter, Activating ... |
ORPHA:424 |
Polysyndactyly With Cardiac Malformation |
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Ventricular septal defect, Polyhydramnios, Renal cyst, Stillbirth, Atrial septal defect, Hepatic ... |
OMIM:263630 |
Autosomal Dominant Popliteal Pterygium Syndrome |
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Thin upper lip vermilion, Lip pit, Micrognathia, Joint stiffness, Cryptorchidism, Non-midline cle... |
ORPHA:1300 |
Pseudohypoparathyroidism Type 1B |
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Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Prolonged QT interval, Sho... |
ORPHA:94089 |
Humero-Radial Synostosis |
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Aplasia/Hypoplasia of the thumb, Tarsal synostosis, Elbow dislocation, Meningocele, Limitation of... |
ORPHA:3265 |
Hypohidrotic Ectodermal Dysplasia |
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Abnormal hair quantity, Sinusitis, Abnormal dental morphology, Slow-growing hair, Abnormality of ... |
ORPHA:238468 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
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Osteopenia, Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Small hypothenar... |
ORPHA:2232 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
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Short neck, Aplasia/hypoplasia of the extremities, Hemivertebrae, Pectus carinatum, High palate, ... |
OMIM:276820 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
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Mandibular prognathia, Osteopenia, Short metacarpal, Diabetes mellitus, Rhizomelia, Hypoplastic s... |
OMIM:614813 |
Juvenile Polyposis Syndrome |
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Neoplasm of the stomach, Rectal prolapse, Multiple gastric polyps, Hematochezia, Colon cancer, Du... |
OMIM:174900 |
Pseudohypoparathyroidism Type 1A |
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Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:79443 |
Glycogen Storage Disease Ib |
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Hepatomegaly, Proteinuria, Pancreatic fibrosis, Short stature, Hepatocellular carcinoma, Splenome... |
OMIM:232220 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
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Absent thumb, Submucous cleft hard palate, Pulmonic stenosis, Atrial septal defect, Bifid uvula |
OMIM:619239 |
Aspartylglucosaminuria |
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Vacuolated lymphocytes, Hernia, Neutropenia, Joint laxity, Hepatomegaly, Short stature, Delayed s... |
OMIM:208400 |
Shwachman-Diamond Syndrome 2 |
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Normocytic anemia, Hepatomegaly, Short stature, Anterior rib cupping, Genu varum, Neutropenia, St... |
OMIM:617941 |
Aceruloplasminemia |
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Refractory anemia, Torticollis, Diabetes mellitus, Congestive heart failure, Abnormal pancreas mo... |
ORPHA:48818 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
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Short humerus, Trident pelvis, Hypospadias, Thoracic hypoplasia, Short lingual frenulum, Flexion ... |
OMIM:619479 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
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Joint laxity, Thin upper lip vermilion, Lumbar hyperlordosis, Progressive flexion contractures, A... |
ORPHA:522077 |
Familial Gestational Hyperthyroidism |
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Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... |
ORPHA:99819 |
Renal And Mullerian Duct Hypoplasia |
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Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele... |
OMIM:266810 |
Chiari Malformation Type Ii |
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Spina bifida, Hydrocephalus, Myelomeningocele, Cervical myelopathy, Dysphagia, Limb muscle weakne... |
OMIM:207950 |
Mitchell-Riley Syndrome |
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Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati... |
OMIM:615710 |
Lowry-Wood Syndrome |
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Abnormality of nail color, Short stature, Joint stiffness, Elbow dislocation, Delayed skeletal ma... |
ORPHA:1824 |
Faciocardiorenal Syndrome |
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Narrow mouth, Cleft palate, Horseshoe kidney, Hypodontia, Tricuspid valve prolapse, Endocardial f... |
ORPHA:1973 |
Familial Multinodular Goiter |
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Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Multinodular goiter, Ovaria... |
ORPHA:276399 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
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Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Adipose tissue loss, Elevated circulati... |
OMIM:256040 |
Prolactinoma |
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Osteopenia, Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated ... |
ORPHA:2965 |
Pseudohermaphroditism, Female, With Skeletal Anomalies |
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Hypoplasia of the maxilla, Short mandibular condyles, Ulnar radial head dislocation |
OMIM:264270 |
Ebstein Malformation Of The Tricuspid Valve |
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Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... |
ORPHA:1880 |
Malakoplakia |
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Abnormal bleeding, Proteinuria, Dysuria, Follicular hyperplasia, Orchitis, Urinary bladder inflam... |
ORPHA:556 |
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
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Mandibular prognathia, Pelvic girdle muscle atrophy, Elevated circulating luteinizing hormone lev... |
ORPHA:3044 |
Ablepharon Macrostomia Syndrome |
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Omphalocele, Absent eyebrow, Hypoplasia of penis, Camptodactyly of finger, Abnormal hair pattern,... |
ORPHA:920 |
Lymphatic Malformation 13 |
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Nonimmune hydrops fetalis, Lymphedema, Patent ductus arteriosus, Hydrocele testis, Mitral regurgi... |
OMIM:620244 |
Nasopalpebral Lipoma-Coloboma Syndrome |
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Lipomas of eyelids, Hypoplasia of the maxilla, Abnormal eyelash morphology, Sparse eyebrow, Recur... |
ORPHA:2399 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
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Microretrognathia, Tricuspid regurgitation, Highly arched eyebrow, Hypoplasia of the maxilla, Abs... |
ORPHA:228396 |
Barber-Say Syndrome |
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Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Lipodystrophy, Sparse eyelashes,... |
OMIM:209885 |
Hereditary Mixed Polyposis Syndrome |
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Refractory anemia, Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous c... |
ORPHA:157794 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
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Intrauterine growth retardation, Abnormal rib morphology, Abnormal palate morphology |
ORPHA:1506 |
Martinez-Frias Syndrome |
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Intestinal hypoplasia, Hypoplasia of the gallbladder, Hypospadias, Intestinal malrotation, Jejuna... |
OMIM:601346 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
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Hepatic steatosis, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Short stature, Thin uppe... |
OMIM:616263 |
Camptodactyly Syndrome, Guadalajara Type 3 |
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Osteopenia, Short neck, Delayed skeletal maturation, Abnormal rib morphology, Retrognathia, Small... |
ORPHA:488434 |
Congenital Disorder Of Glycosylation, Type Iim |
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Ureteropelvic junction obstruction, Mandibular prognathia, Thick eyebrow, Exaggerated cupid's bow... |
OMIM:300896 |
Cleidocranial Dysplasia 2 |
|
Osteopenia, Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypopla... |
OMIM:620099 |
Bladder Exstrophy |
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Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Intestinal... |
ORPHA:93930 |
Holoprosencephaly 4 |
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Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly |
OMIM:142946 |
Adenocarcinoma Of The Anal Canal |
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Anal stenosis, Anal canal adenocarcinoma, Rectal prolapse, Lymphadenopathy, Neoplasm of the lung,... |
ORPHA:424016 |
Kindler Epidermolysis Bullosa |
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Urethral stricture, Flexion contracture, Gingivitis, Inflammation of the large intestine, Colitis... |
ORPHA:2908 |
Subependymal Nodular Heterotopia |
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Occipital encephalocele, Myelomeningocele, Meningocele, Partial agenesis of the corpus callosum, ... |
ORPHA:101030 |
Cardiomyopathy, Familial Hypertrophic, 11 |
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Atrial flutter, Angina pectoris, Cardiac arrest, Congestive heart failure, Ventricular tachycardi... |
OMIM:612098 |
Cleft Velum |
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Cleft soft palate, Oral-pharyngeal dysphagia, Hypoplasia of the maxilla, Velopharyngeal insuffici... |
ORPHA:99772 |
Bnar Syndrome |
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Anteriorly placed anus, Short lingual frenulum, Anal stenosis, Renal agenesis |
ORPHA:217266 |
Pearson Marrow-Pancreas Syndrome |
|
Sideroblastic anemia, Villous atrophy, Hydrops fetalis, Dehydration, Reticulocytopenia, 3-Methylg... |
OMIM:557000 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
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Micrognathia, Multinodular goiter, Embryonal rhabdomyosarcoma, Adenocarcinoma of the colon, Lipoma |
OMIM:620189 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Lumbar hyperlordosis, Severe short stature, Anterior rib cupping, Kyphoscoliosis, Genu valgum, Hy... |
OMIM:184253 |
Bifid Nose With Or Without Anorectal And Renal Anomalies |
|
Renal agenesis, Short lingual frenulum, Unilateral renal agenesis, Precocious puberty, Ebstein an... |
OMIM:608980 |
Czech Dysplasia |
|
Short metacarpal, Short toe, Flexion contracture, Limitation of joint mobility, Short metatarsal,... |
OMIM:609162 |
Sillence Syndrome |
|
Back pain, Aplasia of the middle phalanx of the hand, Flat acetabular roof, Platyspondyly, Short ... |
ORPHA:3168 |
Multiple Endocrine Neoplasia, Type I |
|
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... |
OMIM:131100 |
Cowden Syndrome 7 |
|
Intestinal polyposis, Papillary thyroid carcinoma, Ductal carcinoma in situ, Hashimoto thyroiditi... |
OMIM:616858 |
Familial Cerebral Cavernous Malformation |
|
Venous malformation, Scoliosis, Neuroma, Cerebral hemorrhage |
ORPHA:221061 |
Gastrointestinal Stromal Tumor |
|
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the stomach, Gastrointestinal st... |
ORPHA:44890 |
Axenfeld-Rieger Syndrome, Type 3 |
|
Microdontia, Patent ductus arteriosus, Hypodontia, Atrial septal defect, Malar flattening |
OMIM:602482 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Everted upper lip vermilion, Absent nipple, Brittle hair, Abnormal oral mucosa mo... |
OMIM:305100 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Short stature, Short neck, Synophrys, Thick lower lip vermilion, Low anterior hairl... |
OMIM:610442 |
X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Severe short stature, Edema, Lymphedema, Abnormal eyelash morphology, Abnormal hair... |
ORPHA:2526 |
Yellow Fever |
|
Abnormal bleeding, Low back pain, Renal insufficiency, Anuria, Acute pancreatitis, Neutrophilia, ... |
ORPHA:99829 |
Right Pulmonary Artery, Anomalous Origin Of, Familial |
|
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... |
OMIM:610338 |
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Multinodular goiter, Nail dystrophy, Premature loss of tee... |
OMIM:618373 |
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Capillary malformation of the lip, Venous malformation, Lymphedema |
OMIM:613089 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Joint laxity, Short metacarpal, Lumbar hyperlordosis, Hypoplasia of the maxilla, Hypoplasia of th... |
OMIM:300106 |
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased circulating cortisol level, Severe B lymphocytopenia, Decreased response to growth horm... |
ORPHA:293978 |
Bladder Exstrophy And Epispadias Complex |
|
Inguinal hernia, Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly... |
OMIM:600057 |
Cardiomyopathy, Dilated, 1Oo |
|
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... |
OMIM:620247 |
Varicose Veins |
|
Varicose veins |
OMIM:192200 |
Granulomatous Disease, Chronic, X-Linked |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Atelectasis, Recurrent pneumonia, Lymph... |
OMIM:306400 |
Isolated Posterior Meningocele |
|
Thoracic hemivertebrae, Hydrocephalus, Lipomyelomeningocele, Meningocele, Enuresis, Neural tube d... |
ORPHA:268810 |
Bardet-Biedl Syndrome 20 |
|
Papilledema, Proteinuria, Bilateral cryptorchidism, Atrial septal defect, Male hypogonadism, Micr... |
OMIM:619471 |
X-Linked Intellectual Disability, Golabi-Ito-Hall Type |
|
Dry hair, Brittle hair, Short stature, Growth delay, Macroglossia, Nail dystrophy, Atrial septal ... |
ORPHA:93947 |
Nthl1-Related Attenuated Familial Adenomatous Polyposis |
|
Pancreatic adenocarcinoma, Adenomatous colonic polyposis, Neoplasm of the rectum, Ovarian cyst, C... |
ORPHA:454840 |
Saethre-Chotzen Syndrome |
|
Absent first metatarsal, Short stature, Hypoplasia of the maxilla, Cleft of chin, Low anterior ha... |
OMIM:101400 |
Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lym... |
OMIM:233700 |
Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lym... |
OMIM:233710 |
Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Hepatomegaly, Liver abscess, Osteomyelitis, Splenomegaly, Lymphadenitis, Recurrent pneumonia, Lym... |
OMIM:233690 |
Darier-White Disease |
|
Enlargement of parotid gland |
OMIM:124200 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Hypoplastic Left Heart Syndrome 2 |
|
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia |
OMIM:614435 |
Pancreas, Annular |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
OMIM:167750 |
Annular Pancreas |
|
Annular pancreas, High intestinal obstruction, Duodenal stenosis |
ORPHA:675 |
Diamond-Blackfan Anemia 4 |
|
Macrocytic anemia, Short stature, Erythroid hypoplasia, Reticulocytopenia, Growth delay, Neutrope... |
OMIM:612527 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Kindler Syndrome |
|
Anal stenosis, Esophageal stenosis, Telangiectasia of the skin, Phimosis, Carious teeth, Urethral... |
OMIM:173650 |
Orotic Aciduria |
|
Orotic acid crystalluria, Ventricular septal defect, Anisocytosis, Folate-unresponsive megaloblas... |
OMIM:258900 |
Craniosynostosis And Dental Anomalies |
|
Mandibular prognathia, Delayed eruption of teeth, Papilledema, Prominent metopic ridge, Short sta... |
OMIM:614188 |
Inhalational Anthrax |
|
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology |
ORPHA:247257 |
Polymerase Proofreading-Related Adenomatous Polyposis |
|
Neoplasm of the rectum, Adenomatous colonic polyposis, Colorectal polyposis, Adenocarcinoma of th... |
ORPHA:447877 |
Parotid Salivary Glands, Polycystic Dysgenetic Disease Of |
|
Enlargement of parotid gland |
OMIM:600343 |
Ablepharon-Macrostomia Syndrome |
|
Ventral hernia, Omphalocele, Absent eyebrow, Short metacarpal, Absent eyelashes, Anteriorly place... |
OMIM:200110 |
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome |
|
Sparse scalp hair, Non-midline cleft lip, Meningocele, Hip dislocation, Bilateral cleft lip and p... |
ORPHA:2003 |
Neonatal Inflammatory Skin And Bowel Disease |
|
Chapped lip, Anal fissure, Perianal dermatitis, Horizontal eyebrow, Recurrent gastroenteritis, Le... |
ORPHA:294023 |
Mismatch Repair Cancer Syndrome 3 |
|
Neoplasm of the rectum, Colon cancer |
OMIM:619097 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Urachal cyst, Neutrophilia, Macrocytic anemia, Impaired neutrophil chemotaxis, Leukocytosis, Impa... |
OMIM:608203 |
Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent respiratory infections, Recurrent pneumonia, Bronchiectasis, Rectal abscess, B lymphocy... |
OMIM:601495 |
Pancreatitis, Hereditary |
|
Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pleural effusion... |
OMIM:167800 |
Leukocyte Adhesion Deficiency, Type I |
|
Osteomyelitis, Leukocytosis, Gingivitis, Rectal abscess, Periodontitis |
OMIM:116920 |
Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Omphalocele, Abnormality of the hairline |
OMIM:248450 |
Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Anal stenosis, Abnormal hair pattern |
ORPHA:2717 |
Ebstein Anomaly |
|
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... |
OMIM:224700 |
Craniofacial-Deafness-Hand Syndrome |
|
Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Meningocele, Nail dystrophy,... |
ORPHA:1010 |
Tropical Pancreatitis |
|
Pancreatic adenocarcinoma, Maternal diabetes, Insulin-dependent but ketosis-resistant diabetes, J... |
ORPHA:103918 |
Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |