| Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Ventricular septal defect, Anteverted nares, Optic nerve hypopl... |
OMIM:615583 |
| Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Wide intermamillary distance, Ventricular septal defect, Short neck, Underdeveloped nasal alae, A... |
ORPHA:2516 |
| 14Q24.1Q24.3 Microdeletion Syndrome |
|
Ventricular septal defect, Prominent nasal bridge, Cryptorchidism, Synophrys, Wide nasal bridge, ... |
ORPHA:401935 |
| Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
| Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
| Ciliary Dyskinesia, Primary, 40 |
|
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... |
OMIM:618300 |
| Ritscher-Schinzel Syndrome 1 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... |
OMIM:220210 |
| Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... |
OMIM:300845 |
| Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
| Skraban-Deardorff Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Right aortic arch, Sparse la... |
OMIM:617616 |
| Holoprosencephaly 5 |
|
Syntelencephaly, Anteverted nares, Depressed nasal bridge, Alobar holoprosencephaly, Hydrocephalu... |
OMIM:609637 |
| Microform Holoprosencephaly |
|
Narrow nasal bridge, Anteverted nares, Choanal atresia, Maternal diabetes, Midnasal stenosis, Cyc... |
ORPHA:280200 |
| Double Outlet Right Ventricle |
|
Hypoparathyroidism, Ventricular septal defect, Depressed nasal bridge, Double outlet right ventri... |
ORPHA:3426 |
| Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
| Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Underdeveloped nasal alae |
OMIM:601355 |
| Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Omphalocele, Wide intermamillary distance, Ventricular septal defect, Anteverted nares, Parachute... |
OMIM:618316 |
| Scimitar Syndrome |
|
Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Pa... |
ORPHA:185 |
| Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Prominent nose, Cryptorchidism, Patent ductus arteriosu... |
OMIM:617516 |
| Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
| Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... |
ORPHA:1457 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypoplastic... |
OMIM:601186 |
| Pseudotrisomy 13 Syndrome |
|
Encephalocele, Omphalocele, Ventricular septal defect, Dextrocardia, Adrenal hypoplasia, Complete... |
OMIM:264480 |
| Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
Anteverted nares, Synophrys, Perimembranous ventricular septal defect, Transposition of the great... |
OMIM:617877 |
| Emanuel Syndrome |
|
Sacral dimple, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Cryptorchidism, Pa... |
OMIM:609029 |
| Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Vertebral fusion, Sacral dimple, Bicuspid aortic valve, Anomalous origin of left coronary artery ... |
OMIM:618845 |
| Ciliary Dyskinesia, Primary, 37 |
|
Dextrocardia, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hypothyroidism, Goiter |
OMIM:617577 |
| Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Truncus arteriosus, Highly arched eyebrow, Underdeveloped nasal alae |
OMIM:611867 |
| Thanatophoric Dysplasia Type 2 |
|
Encephalocele, Depressed nasal bridge, Kyphosis, Patent ductus arteriosus, Hydrocephalus, Platysp... |
ORPHA:93274 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... |
OMIM:616749 |
| Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
| Aminopterin/Methotrexate Embryofetopathy |
|
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... |
ORPHA:1908 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Ventricular septal defect, Anterior encephalocele, Coloboma, Holoprosencephaly, Scol... |
OMIM:601357 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Hemivertebrae... |
ORPHA:77298 |
| Recombinant Chromosome 8 Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Patent ductu... |
OMIM:179613 |
| Emanuel Syndrome |
|
Sacral dimple, Inguinal hernia, Truncus arteriosus, Ventricular septal defect, Kyphoscoliosis, Cr... |
ORPHA:96170 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Thoracic scoliosis, Bicuspid aortic valve, Short neck, Coloboma, Abnormal optic disc morphology, ... |
ORPHA:508498 |
| Holoprosencephaly |
|
Short neck, Abnormality of the spleen, Synophrys, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2162 |
| Snijders Blok-Campeau Syndrome |
|
Inguinal hernia, Prominent nose, Wide nasal bridge, Perimembranous ventricular septal defect, Pul... |
OMIM:618205 |
| Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
| Sandestig-Stefanova Syndrome |
|
Wide intermamillary distance, Laterally extended eyebrow, Highly arched eyebrow, Short neck, Musc... |
OMIM:618804 |
| Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Cardiomegaly, Dysplastic corpus callosum, Cryptorchidism, Perimembranous ventricular septal defec... |
OMIM:620135 |
| Cardiac Septal Defects With Coarctation Of The Aorta |
|
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta |
OMIM:212090 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Ventricular septal defect, Partial agenesis of the corpus callosum, Partial anomalous pulmonary v... |
OMIM:617478 |
| Distal Deletion 13Q |
|
Encephalocele, Anencephaly, Primary adrenal insufficiency, Abnormal form of the vertebral bodies,... |
ORPHA:1590 |
| Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
| Meacham Syndrome |
|
Accessory spleen, Bicuspid aortic valve, Ventricular septal defect, Dextrocardia, Patent ductus a... |
OMIM:608978 |
| Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
| Ring Chromosome 21 Syndrome |
|
Fused thoracic vertebrae, Abnormal heart morphology, Holoprosencephaly, Scoliosis, Thoracic hemiv... |
ORPHA:1445 |
| Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
| Chromosome 9P Deletion Syndrome |
|
Omphalocele, Wide intermamillary distance, Inguinal hernia, Ventricular septal defect, Anteverted... |
OMIM:158170 |
| 10Q22.3Q23.3 Microdeletion Syndrome |
|
Anteverted nares, Depressed nasal bridge, Patent ductus arteriosus, Breast aplasia, Tricuspid val... |
ORPHA:276413 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, D... |
ORPHA:268261 |
| Cleft-Limb-Heart Malformation Syndrome |
|
Truncus arteriosus |
OMIM:215850 |
| Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
Laterally extended eyebrow, Ventricular septal defect, Highly arched eyebrow, Secundum atrial sep... |
OMIM:600987 |
| Congenital Heart Defects, Multiple Types, 5 |
|
Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ... |
OMIM:617912 |
| Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Omphalocele, Overriding aorta, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip... |
OMIM:601927 |
| Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Omphalocele, Papilledema, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, ... |
ORPHA:371428 |
| Congenital Disorder Of Glycosylation, Type Ih |
|
Short neck, Cryptorchidism, Patent ductus arteriosus, Perimembranous ventricular septal defect, N... |
OMIM:608104 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Ventricular septal defect, Abnormal pulmonary valve morp... |
ORPHA:860 |
| Meier-Gorlin Syndrome 7 |
|
Ventricular septal defect, Choanal atresia, Complete atrioventricular canal defect, Cryptorchidis... |
OMIM:617063 |
| Atrioventricular Septal Defect 5 |
|
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart |
OMIM:614474 |
| Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Long nose, Dysplastic corpus callosum, Patent ductus arteriosus, Muscular ventricular septal defe... |
ORPHA:363444 |
| Sotos Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Sparse eyeb... |
OMIM:117550 |
| Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
| Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties |
|
Sparse eyelashes, Pericardial effusion, Sparse eyebrow, Multiple muscular ventricular septal defe... |
OMIM:620070 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Frontal hirsutism, Cryptorchidism, Patent ductus arteriosus, Wide nasal bridge,... |
ORPHA:3304 |
| Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Cyclopia, Optic nerve hypoplasia, Alobar holopr... |
OMIM:301043 |
| Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome |
|
Narrow nasal base, Wide nose, Cleft ala nasi, Elevated circulating luteinizing hormone level, Spa... |
ORPHA:3044 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Spinal rigidity, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial ... |
OMIM:253800 |
| Velocardiofacial Syndrome |
|
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Underdeveloped nasal alae, Crypto... |
OMIM:192430 |
| Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta |
|
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... |
ORPHA:99050 |
| Long Qt Syndrome 16 |
|
Patent ductus arteriosus after birth at term, Perimembranous ventricular septal defect |
OMIM:618782 |
| Pallister-Hall Syndrome |
|
Thyroid dysgenesis, Decreased circulating cortisol level, Ventricular septal defect, Decreased re... |
OMIM:146510 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Thoracic scoliosis, Ventricular septal defect, Kyphosis, Hydrocephalus, Vascular ring, Atrial sep... |
OMIM:603387 |
| Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of the great arteries, Atrial se... |
OMIM:306955 |
| Acrocardiofacial Syndrome |
|
Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Cryptorchidism, Wide nasal bridge, C... |
ORPHA:2008 |
| Adams-Oliver Syndrome 6 |
|
Splenomegaly, Truncus arteriosus, Ventricular septal defect |
OMIM:616589 |
| Birk-Aharoni Syndrome |
|
Cryptorchidism, Muscular ventricular septal defect, Thick eyebrow, Long nasal bridge |
OMIM:620071 |
| Incontinentia Pigmenti |
|
Alopecia, Supernumerary nipple, Kyphoscoliosis, Hemivertebrae, Optic atrophy, Fine hair, Coarse h... |
OMIM:308300 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Anteverted nares, Ventricular septal defect, Supernumerary nipple, Depressed nasal bridge, Broad ... |
OMIM:612530 |
| Cardiomyopathy, Dilated, 2H |
|
Secundum atrial septal defect, Muscular ventricular septal defect, Neonatal death |
OMIM:620203 |
| Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
| 22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal ridge, Hypoplastic left heart, Transpositio... |
ORPHA:1727 |
| Houge-Janssens Syndrome 3 |
|
Inguinal hernia, Broad nasal tip, Muscular ventricular septal defect, Atrial septal defect, Umbil... |
OMIM:618354 |
| Distal Monosomy 7Q36 |
|
Wide intermamillary distance, Short neck, Cryptorchidism, Bulbous nose, Optic atrophy, Holoprosen... |
ORPHA:1636 |
| Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Situs inversus totalis, Absent nares, Holoprosencephaly, C... |
ORPHA:990 |
| Heart Defects, Congenital, And Other Congenital Anomalies |
|
Absent gallbladder, Double outlet left ventricle, Diabetes mellitus, Ventricular septal defect, I... |
OMIM:600001 |
| Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Wide nose, Overriding aorta, Bicuspid aor... |
ORPHA:477817 |
| Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Abnormality of the twelfth cranial nerve, Abnormality of t... |
ORPHA:268882 |
| Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left coronary artery from the... |
ORPHA:2326 |
| 3C Syndrome |
|
Adrenal hypoplasia, Short neck, Aplasia/Hypoplasia of the nipples, Hemivertebrae, Abnormal tricus... |
ORPHA:7 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Optic disc pallor, Wide intermamillary distance, Highly arched eyebrow, ... |
OMIM:300887 |
| Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
| Cardiac Valvular Dysplasia 1 |
|
Inguinal hernia, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, Valvular... |
OMIM:212093 |
| Phaver Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Myelomeningocele, Hypoplastic aortic arch, Abn... |
ORPHA:2876 |
| Rubinstein-Taybi Syndrome 1 |
|
Premature thelarche, Prominent nose, Bilateral cryptorchidism, Low anterior hairline, Aortic isth... |
OMIM:180849 |
| 22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal aortic arch morphology, Hypoplasia of the thymus, Atrial septal defect, Hypo... |
ORPHA:567 |
| Barber-Say Syndrome |
|
Anteverted nares, Bulbous nose, Wide nasal bridge, Sparse or absent eyelashes, Breast aplasia, Hy... |
ORPHA:1231 |
| Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Inguinal hernia, Ventricular septal defect, Choanal atresia, Prominent nasal b... |
ORPHA:261330 |
| Triploidy |
|
Omphalocele, Short neck, Cryptorchidism, Hydrocephalus, Meningocele, Abnormal cardiac septum morp... |
ORPHA:3376 |
| 14Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Depressed nasal bridge, Highly arched eyebrow, Patent ductus arteriosu... |
ORPHA:261120 |
| Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Bicuspid aortic valve, Ventricular septal defect, Depressed nasal bridge... |
ORPHA:284169 |
| Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
| Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
| Ulnar-Mammary Syndrome |
|
Ventricular septal defect, Cryptorchidism, Breast aplasia, Hypoplastic nipples, Delayed puberty, ... |
ORPHA:3138 |
| Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Wide nose, Choanal atresia, Muscular ventricular septal defect, Low posterior hairline, Fused cer... |
OMIM:619227 |
| Holoprosencephaly 14 |
|
Ventricular septal defect, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal sten... |
OMIM:619895 |
| Fetal Trimethadione Syndrome |
|
Depressed nasal bridge, Ventricular septal defect, Synophrys, Transposition of the great arteries... |
ORPHA:1913 |
| Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
|
Short nose, Anteverted nares, Abnormal vertebral morphology, Short neck |
ORPHA:2015 |
| Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... |
ORPHA:1330 |
| Scalp-Ear-Nipple Syndrome |
|
Anteverted nares, Depressed nasal bridge, Sparse axillary hair, Sparse pubic hair, Cardiac myxoma... |
OMIM:181270 |
| Halperin-Birk Syndrome |
|
Inguinal hernia, Optic atrophy, Colpocephaly, Perimembranous ventricular septal defect, Long eyel... |
OMIM:618651 |
| 16P13.11 Microdeletion Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Cyclopia, Cryptorchidism, Ho... |
ORPHA:261236 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Absent gallbladder, Overriding aorta, Vertebral segmentation defect, Holoprosencepha... |
ORPHA:3186 |
| Primary Ciliary Dyskinesia |
|
Abnormal atrial arrangement, Atrial situs ambiguous, Nasal polyposis, Situs inversus totalis, Asp... |
ORPHA:244 |
| Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A... |
OMIM:615779 |
| Monosomy 18P |
|
Wide intermamillary distance, Alopecia, Kyphoscoliosis, Short neck, Wide nasal bridge, Low poster... |
ORPHA:1598 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Truncus arteriosus, Situs inversus totalis, Asplenia, Stillbirth, Aortic valve stenosis, Pulmonic... |
OMIM:615415 |
| Acalvaria |
|
Omphalocele, Hydrocephalus, Holoprosencephaly, Spina bifida |
ORPHA:945 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Short nose, Abnormal cardiac septum morphology, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2370 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Prominent nose, Wide anterior fontanel, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridg... |
OMIM:614886 |
| Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Kyphoscoliosis, Cryptorchidi... |
OMIM:301040 |
| Leydig Cell Hypoplasia |
|
Hypergonadotropic hypogonadism, Female hypogonadism, Cryptorchidism, Testicular gonadoblastoma, A... |
ORPHA:755 |
| Charge Syndrome |
|
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... |
OMIM:214800 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Short neck, Bifid nasal tip, Dysplastic corpus callosum, Patent foramen ov... |
OMIM:616854 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Alobar holoprosencephaly, Cryptorchidism, Kyphosis, Agenesis of corpus callosum, Decreased testic... |
OMIM:615433 |
| Ventricular Septal Defect 2 |
|
Perimembranous ventricular septal defect |
OMIM:614431 |
| Solitary Median Maxillary Central Incisor |
|
Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Decreased response to growth... |
OMIM:147250 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Anteverted nares, Highly arched eyebrow, Synophrys, Vertebral clefting, Hemivertebrae, Wide nasal... |
OMIM:614701 |
| Short-Rib Thoracic Dysplasia 12 |
|
Omphalocele, Wide intermamillary distance, Inguinal hernia, Ventricular septal defect, Short neck... |
OMIM:269860 |
| Alg12-Cdg |
|
Inverted nipples, Decreased serum insulin-like growth factor 1, Wide nose, Prominent nasal bridge... |
ORPHA:79324 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... |
OMIM:618223 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Iris coloboma, Holoprosencephaly, Chorioretinal coloboma |
OMIM:611638 |
| Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Depressed nasal ridge, Atrial septal defect, Thick nasal alae, Hypoplastic cer... |
ORPHA:79345 |
| Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2 |
|
Hydrocele testis, Sparse scalp hair, Muscular ventricular septal defect, High anterior hairline |
OMIM:620062 |
| Holoprosencephaly 11 |
|
Synophrys, Holoprosencephaly, Polysplenia, Agenesis of corpus callosum, Thick eyebrow |
OMIM:614226 |
| Monosomy 18Q |
|
Absence of the pulmonary valve, Depressed nasal bridge, Kyphoscoliosis, Prominent nose, Secundum ... |
ORPHA:1600 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Hirsutism, Pulmonic stenosis, ... |
OMIM:301056 |
| 8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Ectopic posterior pituitary, Thoracic scoliosis, Short neck, Atrioventricular can... |
ORPHA:508488 |
| Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Facial palsy, Curly eyelashes, Prominent nose, Bulbous nose, Low anterior... |
OMIM:301022 |
| 17Q21.31 Microduplication Syndrome |
|
Anteverted nares, Synophrys, Delayed puberty, Short nose, Generalized hirsutism, Thick eyebrow |
ORPHA:217340 |
| Yuan-Harel-Lupski Syndrome |
|
Wide nose, Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity,... |
OMIM:616652 |
| Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Synophrys, Hypoplastic nasal s... |
OMIM:610828 |
| Charge Syndrome |
|
Aqueductal stenosis, Hemivertebrae, Holoprosencephaly, Chorioretinal coloboma, Iris coloboma, Hyp... |
ORPHA:138 |
| Absence Of The Pulmonary Artery |
|
Abnormal coronary artery morphology, Cardiomegaly, Patent ductus arteriosus, Abnormal heart morph... |
ORPHA:980 |
| Ogden Syndrome |
|
Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Short neck... |
OMIM:300855 |
| Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Asplenia, Patent ductus arteri... |
OMIM:619657 |
| Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Transient ischemic attack, Cardiomegaly, Pericardial effusion, Muscular ... |
OMIM:115197 |
| Agnathia-Otocephaly Complex |
|
Wide nose, Secundum atrial septal defect, Situs inversus totalis, Holoprosencephaly, Agenesis of ... |
OMIM:202650 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Anteverted nares, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, B... |
ORPHA:238468 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Short neck, Abnormal eyelash... |
OMIM:147791 |
| Cardiomyopathy, Dilated, 1S |
|
Bicuspid aortic valve, Dilated cardiomyopathy, Ebstein anomaly of the tricuspid valve, Coarctatio... |
OMIM:613426 |
| Diabetic Embryopathy |
|
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Abnormal sacrum morphology, Spinal dysr... |
ORPHA:1926 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Prominent nose, Short neck, Partial agenesis of the corpus callosum, Sparse hair, Atrial septal d... |
OMIM:210710 |
| Congenital Gerbode Defect |
|
Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu... |
ORPHA:99095 |
| Estrogen Resistance |
|
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Polycystic ... |
OMIM:615363 |
| Benign Schwannoma |
|
Nasal polyposis, Facial palsy, Schwannoma, Abnormality of the breast, Peripheral schwannoma, Abno... |
ORPHA:252164 |
| Gillespie Syndrome |
|
Aniridia, Truncus arteriosus |
OMIM:206700 |
| Cardiospondylocarpofacial Syndrome |
|
Ventricular septal defect, Anteverted nares, Muscular ventricular septal defect, Dysplastic tricu... |
OMIM:157800 |
| Isotretinoin-Like Syndrome |
|
Inguinal hernia, Bicuspid aortic valve, Anteverted nares, Patent ductus arteriosus, Abnormal card... |
ORPHA:2306 |
| Congenital Disorder Of Glycosylation, Type Iie |
|
Inverted nipples, Wide nose, Short neck, Secundum atrial septal defect, Splenomegaly, Low anterio... |
OMIM:608779 |
| Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bicuspid aortic valve, Prominent nose, Short neck, Synophrys, Atrial septal defect, Anteverted na... |
OMIM:612474 |
| Aortic Arch Interruption |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,... |
ORPHA:2299 |
| Fryns Syndrome |
|
Omphalocele, Wide intermamillary distance, Anteverted nares, Aganglionic megacolon, Short neck, C... |
ORPHA:2059 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Wide intermamillary distance, Abnormal number of hair whorls, Mitral atresia, Patent ductus arter... |
OMIM:618164 |
| Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Par... |
OMIM:188400 |
| Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
| Maternal Phenylketonuria |
|
Ventricular septal defect, Anteverted nares, Wide nasal bridge, Abnormal heart morphology, Coarct... |
ORPHA:2209 |
| Lambotte Syndrome |
|
Ventricular septal defect, Convex nasal ridge, Semilobar holoprosencephaly |
OMIM:245552 |
| Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Ventricular septal defect, Cryptorchidism, Vertebral segmentation defect, Abnormal aortic morphol... |
ORPHA:1166 |
| Congenitally Corrected Transposition Of The Great Arteries |
|
Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va... |
ORPHA:216694 |
| Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Decreased response to growth hormone stimulation test, Prominent nose, Ascending aorta hypoplasia... |
OMIM:619503 |
| Bullous Lichen Planus |
|
Breast aplasia |
ORPHA:33408 |
| 16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
| Gapo Syndrome |
|
Prominent scalp veins, Alopecia, Anteverted nares, Depressed nasal bridge, Facial palsy, Sparse e... |
OMIM:230740 |
| Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Ventricular septal defect, Broad nasal tip, Lon... |
OMIM:619995 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Ectopic posterior pituitary, Septo-optic dysplasia, Decreased response to growth hormone stimulat... |
ORPHA:95494 |
| Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Partial anomalous pulmonary ve... |
ORPHA:95430 |
| Cardiomyopathy, Dilated, 2D |
|
Perinuclear cardiomyocyte vacuolization, Muscular ventricular septal defect, Dilated cardiomyopat... |
OMIM:619371 |
| Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dry hair, Dysplastic corpus callosum, Muscular ventricular septal defect, Low anterior hairline, ... |
OMIM:618569 |
| 8P23.1 Microdeletion Syndrome |
|
Wide intermamillary distance, Prominent nasal bridge, Short neck, Cryptorchidism, Patent ductus a... |
ORPHA:251071 |
| Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Inguinal hernia, Scoliosis |
OMIM:618379 |
| Chromosome 13Q14 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Bulbous nose, A... |
OMIM:613884 |
| Phace Syndrome |
|
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Hypothyroidism, Lens coloboma, Abnor... |
ORPHA:42775 |
| 49,Xxxxy Syndrome |
|
Wide nose, Depressed nasal bridge, Short neck, Cryptorchidism, Depressed nasal ridge, Hypogonadis... |
ORPHA:96264 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Anteverted nares, Highly arched eyebrow, Short neck, Cryptorchidism, Paten... |
OMIM:243310 |
| Tetrasomy 15Q26 |
|
Kyphoscoliosis, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Atrial septal d... |
OMIM:614846 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Beaking of vertebral bodies, Anteverted nares, Depressed nasal bridge, Increased intervertebral s... |
OMIM:618961 |
| Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
| Holoprosencephaly 2 |
|
Aplasia of the nasal bone, Diabetes insipidus, Remnants of the hyaloid vascular system, Adrenal h... |
OMIM:157170 |
| Burn-Mckeown Syndrome |
|
Prominent nasal bridge, Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilate... |
ORPHA:1200 |
| Moebius Syndrome |
|
Breast aplasia, Hypogonadotropic hypogonadism, Facial palsy, Abnormality of the sense of smell |
ORPHA:570 |
| Chromosome 10Q22.3-Q23.2 Deletion Syndrome |
|
Breast aplasia |
OMIM:612242 |
| Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
| Proteus Syndrome |
|
Depressed nasal bridge, Kyphoscoliosis, Splenomegaly, Spinal canal stenosis, Lymphangioma, Venous... |
OMIM:176920 |
| Igg4-Related Aortitis |
|
Low back pain, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubular aorta... |
ORPHA:449400 |
| Microhydranencephaly, X-Linked |
|
Holoprosencephaly |
OMIM:306990 |
| Steinfeld Syndrome |
|
Absent gallbladder, Abnormal heart morphology, Abnormality of the vertebral column, Retinal colob... |
OMIM:184705 |
| Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
| Non-Distal Duplication 10Q |
|
Depressed nasal bridge, Cryptorchidism, Scoliosis, Short nose, Convex nasal ridge |
ORPHA:1695 |
| Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Right aortic arch, Coarctation of aorta |
OMIM:140850 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Wide anterior fontanel, Widow's p... |
ORPHA:2143 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Wide intermamillary distance, Alopecia, Brittle hair, Ventricular septal defect, Anteverted nares... |
ORPHA:75389 |
| Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Overriding aorta, Prominent nasal bridge, Abnormal aortic arch morphology, Arteriovenous malforma... |
ORPHA:1110 |
| Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
| 8P23.1 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Highly arched eyebrow, Adrenal insufficiency, Pulmonic sten... |
ORPHA:251076 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Encephalocele, Omphalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Abnormal cardiac s... |
ORPHA:2166 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism, Holoprosencephaly |
OMIM:300706 |
| Trisomy 18 |
|
Omphalocele, Ventricular septal defect, Choanal atresia, Spina bifida, Cyclopia, Cryptorchidism, ... |
ORPHA:3380 |
| Heterotaxy, Visceral, 2, Autosomal |
|
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Bilateral superior vena cava... |
OMIM:605376 |
| Pierpont Syndrome |
|
Hypoplastic areola, Wide intermamillary distance, Wide nose, Short neck, Broad nasal tip, Cryptor... |
OMIM:602342 |
| Laubry-Pezzi Syndrome |
|
Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu... |
ORPHA:99094 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Ventricular septal defect, Maternal diabetes, Underdeveloped nasal alae, Cryptor... |
OMIM:134780 |
| Frontonasal Dysplasia 1 |
|
Broad nasal tip, Bifid nasal tip, Widow's peak, Anterior basal encephalocele, Wide nasal bridge, ... |
OMIM:136760 |
| X-Linked Intellectual Disability, Nascimento Type |
|
Wide intermamillary distance, Lumbar hypertrichosis, Ventricular septal defect, Depressed nasal b... |
ORPHA:163956 |
| 1Q21.1 Microdeletion Syndrome |
|
Inguinal hernia, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Bulbous nose, Wide nasa... |
ORPHA:250989 |
| Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Wide intermamillary distance, Anteverted nares, Depressed nasal bridge, Cryptorchidism, Patent du... |
ORPHA:171839 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Sparse scalp hair, Abnormal intervertebral disk morphology, Anteverted nares, Cryptorchidism, Hyd... |
ORPHA:2701 |
| Weiss-Kruszka Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Anteverted nares, Highly arched eyebrow, Dextro... |
OMIM:618619 |
| Hydrocephalus, Congenital, 3, With Brain Anomalies |
|
Hydranencephaly, Hydrocephalus, Holoprosencephaly |
OMIM:617967 |
| Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Anteverted nares, Cryptorchidism, Hydrocephalus, Wide nasal bridge, Long eyelashes, Scoliosis, Sh... |
OMIM:618577 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Ventricular septal defect, Prominent nasal bridge, Aganglionic megacolon, Bulbous nose, Patent du... |
OMIM:613870 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thick hair, Kyphosis, Synophrys, Low posterior hairline, Scoliosis, Short nose, Thick eyebrow |
ORPHA:2429 |
| Smith-Lemli-Opitz Syndrome |
|
Wide intermamillary distance, Hypopigmentation of hair, Ventricular septal defect, Choanal atresi... |
ORPHA:818 |
| Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Holoprosencephaly, Short neck |
ORPHA:2570 |
| Pallister-Hall Syndrome |
|
Adrenal hypoplasia, Gonadotropin deficiency, Depressed nasal ridge, Hemivertebrae, Holoprosenceph... |
ORPHA:672 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Absent eyelashes, Abnormal eyebrow morphology, Alopecia, Breast aplasia |
ORPHA:90153 |
| Vissers-Bodmer Syndrome |
|
Holoprosencephaly |
OMIM:619033 |
| Maxillonasal Dysplasia, Binder Type |
|
Depressed nasal bridge, Vertebral clefting, Short columella, Short nose, Patchy distortion of ver... |
OMIM:155050 |
| Alg3-Cdg |
|
Inverted nipples, Abnormality of the nose, Abnormality of the endocrine system, Coarctation of th... |
ORPHA:79321 |
| Holoprosencephaly-Caudal Dysgenesis Syndrome |
|
Cyclopia, Holoprosencephaly, Abnormal cerebral vascular morphology |
ORPHA:2165 |
| Heterotaxy, Visceral, 5, Autosomal |
|
Absence of the sacrum, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia,... |
OMIM:270100 |
| 20Q13.33 Microdeletion Syndrome |
|
Sacral dimple, Dilation of Virchow-Robin spaces, Highly arched eyebrow, Bulbous nose, Abnormal ca... |
ORPHA:261311 |
| Muscle-Eye-Brain Disease |
|
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly |
ORPHA:588 |
| Dilated Cardiomyopathy With Ataxia |
|
Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated cardiomyopathy, Optic atrop... |
ORPHA:66634 |
| Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Short neck, Coarse hair, Sparse hair, Atrial septal defect, Patent foramen ovale, Wide intermamil... |
OMIM:617506 |
| Giant Cell Arteritis |
|
Pericarditis, Alopecia, Diabetes insipidus, Epistaxis, Mediastinal lymphadenopathy, Recurrent pha... |
ORPHA:397 |
| Hypoplastic Left Heart Syndrome |
|
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... |
ORPHA:2248 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Sacral dimple, Depressed nasal bridge, Abnormality of thyroid physiology, Choanal atresia, Promin... |
OMIM:300968 |
| Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Omphalocele, Inguinal hernia, Ventricular septal defect, Anteverted nares, Supernumerary nipple, ... |
OMIM:618454 |
| Venous Malformations, Multiple Cutaneous And Mucosal |
|
Venous malformation |
OMIM:600195 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Inverted nipples, Wide intermamillary distance, Depressed nasal bridge, Short neck, Pericardial e... |
OMIM:608776 |
| Arachnoid Cyst |
|
Encephalocele, Back pain, Facial palsy, Subarachnoid hemorrhage, Abnormality of the endocrine sys... |
ORPHA:2356 |
| Rhiny |
|
Short nose, Anteverted nares, Inguinal hernia |
OMIM:180360 |
| Teebi Hypertelorism Syndrome 1 |
|
Omphalocele, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Highly arched e... |
OMIM:145420 |
| 1Q41Q42 Microdeletion Syndrome |
|
Depressed nasal bridge, Hypergonadotropic hypogonadism, Broad nasal tip, Underdeveloped nasal ala... |
ORPHA:250999 |
| Hartsfield Syndrome |
|
Encephalocele, Depressed nasal bridge, Lobar holoprosencephaly |
ORPHA:2117 |
| Frank-Ter Haar Syndrome |
|
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Broad nasal tip, Secundum at... |
OMIM:249420 |
| Vitamin K Antagonist Embryofetopathy |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Myelomeningocele, Hydrocep... |
ORPHA:1914 |
| Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Perimembranous ventricular septal defect, Pulmonic s... |
OMIM:611376 |
| Maxillonasal Dysplasia |
|
Depressed nasal bridge, Vertebral clefting, Depressed nasal ridge, Short columella, Scoliosis, Ab... |
ORPHA:1248 |
| Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Inguinal hernia, Anteverted nares, Highly arched eyebrow, Cryptorchidism, Synophrys, Conotruncal ... |
ORPHA:96147 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Inguinal hernia, Ventricular septal defect, Depressed nasal bridge, Highly arched eyebrow, Pulmon... |
OMIM:280000 |
| Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares, Hypopigmentation of hair |
ORPHA:1355 |
| Heart And Brain Malformation Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ventricular septal defect, Wide anterior fontanel, Wide... |
OMIM:616920 |
| Estrogen Resistance Syndrome |
|
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... |
ORPHA:785 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Wide nose, Depressed nasal ridge, Coarctation of aorta, Abnormal aortic morphology, Holoprosencep... |
ORPHA:1052 |
| Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul... |
OMIM:614980 |
| Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At... |
OMIM:265380 |
| Chromosome 6Q11-Q14 Deletion Syndrome |
|
Sacral dimple, Inguinal hernia, Prominent nasal bridge, Broad nasal tip, Bilateral cryptorchidism... |
OMIM:613544 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Ventricular septal defect, Long nose, Cryptorchidism, Kyphosis, Co... |
OMIM:617602 |
| Limb-Mammary Syndrome |
|
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... |
ORPHA:69085 |
| Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thick eyebrow, Ventricular septal defect, Depressed nasal bridge, Kyphosis, Patent ductus arterio... |
OMIM:617061 |
| Acromicric Dysplasia |
|
Abnormal eyebrow morphology, Anteverted nares, Ovoid vertebral bodies, Decreased nerve conduction... |
ORPHA:969 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ... |
OMIM:619534 |
| Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
|
Anteverted nares, Ventricular septal defect, Short nose |
OMIM:618506 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, De... |
OMIM:218000 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Low ... |
ORPHA:369891 |
| Intellectual Developmental Disorder, X-Linked 91 |
|
Short nose, Low posterior hairline |
OMIM:300577 |
| You-Hoover-Fong Syndrome |
|
Coarctation of aorta, Kyphoscoliosis, Double aortic arch, Vascular ring |
OMIM:616954 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis, Delayed puberty, Short nose, Distichiasis |
ORPHA:2598 |
| Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Wide nose, Depressed nasal bridge, Anteverted nares, Cardiomegaly, Short neck, Short nose, Dyspla... |
OMIM:613320 |
| Distal Triplication 15Q |
|
Kyphosis, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Abnormal heart morpho... |
ORPHA:314588 |
| Microphthalmia, Syndromic 2 |
|
Laterally curved eyebrow, Atrial septal defect, Hypothyroidism, Iris coloboma, Cryptorchidism, Pa... |
OMIM:300166 |
| Codas Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Abnormal form of the vertebr... |
ORPHA:1458 |
| Wrinkly Skin Syndrome |
|
Inguinal hernia, Short nail, Cryptorchidism, Muscular ventricular septal defect, Kyphosis, Wide a... |
OMIM:278250 |
| Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:2182 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Depressed nasal ridge, Short nose, Anteverted nares, Short neck |
ORPHA:1832 |
| Fumarase Deficiency |
|
Anteverted nares, Depressed nasal bridge, Optic atrophy, Perimembranous ventricular septal defect... |
OMIM:606812 |
| Smith-Lemli-Opitz Syndrome |
|
Sacral dimple, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Aganglionic m... |
OMIM:270400 |
| Chondrodysplasia, Blomstrand Type |
|
Stillbirth, Depressed nasal bridge, Preductal coarctation of the aorta |
OMIM:215045 |
| Meckel Syndrome 14 |
|
Occipital encephalocele, Anteverted nares, Short neck, Holoprosencephaly, Single ventricle |
OMIM:619879 |
| Kleefstra Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Anteverted nares, Highly ... |
ORPHA:261494 |
| Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Ventricular septal defect, Anterior pituitary hypoplasia, Narrow nasal tip, Pr... |
ORPHA:464306 |
| Feingold Syndrome Type 1 |
|
Tricuspid stenosis, Patent ductus arteriosus, Multiple muscular ventricular septal defects, Abnor... |
ORPHA:391641 |
| Harel-Yoon Syndrome |
|
Peripheral axonal neuropathy, Optic atrophy, Scoliosis, Hypertrophic cardiomyopathy, Short nose |
OMIM:617183 |
| Down Syndrome |
|
Ventricular septal defect, Aganglionic megacolon, Complete atrioventricular canal defect, Patent ... |
OMIM:190685 |
| Odontochondrodysplasia |
|
Depressed nasal bridge, Patent ductus arteriosus, Platyspondyly, Scoliosis, Short nose |
ORPHA:166272 |
| Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abnormality of... |
ORPHA:221098 |
| Lowry-Maclean Syndrome |
|
Inguinal hernia, Choanal atresia, Bilateral cryptorchidism, Hydrocephalus, Coarctation of aorta, ... |
ORPHA:2409 |
| Acrocephalopolydactyly |
|
Short nose, Depressed nasal ridge, Short neck, Hepatosplenomegaly |
ORPHA:221054 |
| Isolated Exencephaly |
|
Depressed nasal bridge, Anterior pituitary hypoplasia, Maternal diabetes, Holoprosencephaly, Post... |
ORPHA:563612 |
| Toriello-Carey Syndrome |
|
Aganglionic megacolon, Short neck, Sparse eyebrow, Cryptorchidism, Patent ductus arteriosus, Part... |
ORPHA:3338 |
| Ring Chromosome 8 Syndrome |
|
Short nose, Anteverted nares, Low posterior hairline |
ORPHA:1450 |
| Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects |
|
Depressed nasal bridge, Short neck, Cryptorchidism, Bulbous nose, Coloboma, Transposition of the ... |
OMIM:616789 |
| Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Narrow nasal bridge, Thick eyebrow, Anteverted nares, Optic atrophy, Wide nasal bridge, Scoliosis... |
OMIM:619383 |
| De Barsy Syndrome |
|
Inguinal hernia, Ventricular septal defect, Kyphoscoliosis, Cryptorchidism, Patent ductus arterio... |
ORPHA:2962 |
| Intellectual Developmental Disorder, Autosomal Dominant 66 |
|
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Scolios... |
OMIM:619910 |
| Parkes Weber Syndrome |
|
Back pain, Peripheral arteriovenous fistula, Cerebral arteriovenous malformation, Subarachnoid he... |
ORPHA:90307 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Pineal cyst, Right aortic ar... |
ORPHA:513456 |
| Aymé-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Inguinal hernia, Depressed nasal bridge, Pericardial effusion, C... |
ORPHA:1272 |
| Diabetes Insipidus, Neurohypophyseal |
|
Wide nose, Decreased circulating osteocalcin level, Central diabetes insipidus, Short nose |
OMIM:125700 |
| Baker-Gordon Syndrome |
|
Prominent nasal tip, Short nose, Scoliosis |
OMIM:618218 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Ventricular septal defect, Choanal atresia, Proboscis, Optic nerve h... |
ORPHA:141099 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Slender nose, Cryptorchidism, Optic atrophy, Scoliosis... |
OMIM:615419 |
| Viss Syndrome |
|
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... |
OMIM:619472 |
| Intellectual Disability-Strabismus Syndrome |
|
Decreased serum insulin-like growth factor 1, Depressed nasal bridge, Decreased response to growt... |
ORPHA:363528 |
| Stickler Syndrome Type 1 |
|
Abnormal vertebral epiphysis morphology, Short nose, Platyspondyly, Mitral valve prolapse |
ORPHA:90653 |
| Craniofrontonasal Syndrome |
|
Curly hair, Short neck, Bifid nasal tip, Cryptorchidism, Widow's peak, Wide nasal bridge, Hypopla... |
OMIM:304110 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Anteverted nares, Ventricular septal defect, Choanal atresia, Highly arched eyebrow, Synophrys, P... |
OMIM:301044 |
| Carpenter Syndrome 1 |
|
Omphalocele, Sacral dimple, Ventricular septal defect, Depressed nasal bridge, Short neck, Precoc... |
OMIM:201000 |
| 17P13.3 Microduplication Syndrome |
|
Wide nose, Inguinal hernia, Short nose, Short neck |
ORPHA:217385 |
| Aorto-Ventricular Tunnel |
|
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Peripheral axonal neuropathy, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Scoliosis, D... |
ORPHA:496790 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Sacral dimple, Dextrocardia, Hydrocephalus, Abnormality of the vertebral column, Transposition of... |
OMIM:314390 |
| Chops Syndrome |
|
Curly hair, Ventricular septal defect, Anteverted nares, Thick hair, Cryptorchidism, Patent ductu... |
OMIM:616368 |
| Adenylosuccinate Lyase Deficiency |
|
Short nose, Anteverted nares |
ORPHA:46 |
| Non-Acquired Panhypopituitarism |
|
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... |
ORPHA:90695 |
| Ear-Patella-Short Stature Syndrome |
|
Cryptorchidism, Breast aplasia |
ORPHA:2554 |
| Coffin-Siris Syndrome |
|
Low anterior hairline, Papillary thyroid carcinoma, Atrial septal defect, Thick nasal alae, Agene... |
ORPHA:1465 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Short neck, Dysplastic corpus callosum, Patent ductus arteriosus, Bulb... |
ORPHA:2328 |
| Donnai-Barrow Syndrome |
|
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Broad nasal tip, Wide anterior fo... |
OMIM:222448 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Abnormality of the spleen, Atrial septal defect, Truncus arteriosus, Agenesis of c... |
ORPHA:2538 |
| Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... |
ORPHA:1686 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Short neck, Pericardial effusion, Depressed nasal ridge, ... |
OMIM:613885 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Omphalocele, Sacral dimple, Hypoplastic right heart, Ventricular septal defect, Anteverted nares,... |
OMIM:616894 |
| Capillary Malformation-Arteriovenous Malformation |
|
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Hydrocephalus, ... |
ORPHA:137667 |
| Peho-Like Syndrome |
|
Short nose, Optic atrophy |
OMIM:617507 |
| Periventricular Nodular Heterotopia 7 |
|
Optic disc pallor, Anteverted nares, Ventricular septal defect, Cryptorchidism, Short nose |
OMIM:617201 |
| Distal Duplication 18Q |
|
Anteverted nares, Prominent nasal bridge, Choanal atresia, Short neck, Progressive intervertebral... |
ORPHA:1716 |
| Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Ventricular septal defect, Cryptorchidism, Partial agenesis of the corpu... |
OMIM:615948 |
| Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
Ventricular septal defect, Bicuspid aortic valve, Supernumerary nipple, Wide anterior fontanel, A... |
ORPHA:457279 |
| Pituicytoma |
|
Hypopituitarism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation ... |
ORPHA:251623 |
| Mosaic Variegated Aneuploidy Syndrome 2 |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Depressed nasal... |
OMIM:614114 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Patent ductus arteriosus, W... |
OMIM:217980 |
| Craniodigital-Intellectual Disability Syndrome |
|
Narrow nasal bridge, Thick hair, Abnormal hair pattern, Long eyelashes, Short nose, Spina bifida ... |
ORPHA:1514 |
| Thymic Neuroendocrine Tumor |
|
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Chronic noninfectious lymphadenopathy... |
ORPHA:97289 |
| Endocrine-Cerebroosteodysplasia |
|
Wide intermamillary distance, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Wide nasal bridg... |
OMIM:612651 |
| Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Short neck, Bulbous nos... |
ORPHA:1780 |
| Jacobsen Syndrome |
|
Inguinal hernia, Ventricular septal defect, Anteverted nares, Spina bifida, Short neck, Iris colo... |
ORPHA:2308 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Brittle hair, Ventricular septal defect, Anteverted nares, Sparse eyelashes, Abnormality of hair ... |
OMIM:234050 |
| Ring Chromosome 12 Syndrome |
|
Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Dystrophic toenail, Hypothyr... |
ORPHA:1439 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Depressed nasal bridge, Highly arched eyebrow |
ORPHA:438178 |
| Miller-Dieker Syndrome |
|
Omphalocele, Sacral dimple, Short nose, Anteverted nares |
ORPHA:531 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Anteverted nares, Optic nerve hypoplasia, Abnormal hair whorl, Hydrocephalus, Hy... |
ORPHA:457284 |
| Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Double outlet left ventricle, Ventricular septal defect, Neonatal insulin-dependent diabetes mell... |
ORPHA:2255 |
| Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Inguinal hernia, Underdeveloped nasal alae, Biliary hyperplasia, Cryptorchidism, Wide nasal bridg... |
ORPHA:83617 |
| Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
|
Short nose, Broad nasal tip |
OMIM:613670 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Spina bifida, Un... |
ORPHA:894 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Diabetes mellitus, Broad nasal tip, Recurrent upper respiratory tract infections, Abnormal heart ... |
ORPHA:391372 |
| Scalp-Ear-Nipple Syndrome |
|
Type I diabetes mellitus, Aplasia/Hypoplasia of the nipples, Breast aplasia, Sparse hair |
ORPHA:2036 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Aplasia of the nasal bone, Streak ovary, Kyphoscoliosis, Dysplastic corpus callosum,... |
OMIM:618820 |
| Becker Nevus Syndrome |
|
Unilateral breast hypoplasia, Hemivertebrae, Scoliosis |
OMIM:604919 |
| Holoprosencephaly 9 |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Anterior pituitary... |
OMIM:610829 |
| Cardiac-Urogenital Syndrome |
|
Accessory spleen, Cor triatrium sinister, Ventricular septal defect, Dextrocardia, Coronary sinus... |
OMIM:618280 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Decreased response to growth hormone stimulation test, Short neck, Synophrys, Hemivertebrae, Low ... |
OMIM:213980 |
| Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Inguinal hernia, Ventricular septal defect, Abnormal pulmonary valve morphology, A... |
ORPHA:1507 |
| Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Ventricular septal defect, Abnormal hair whorl, Optic atrophy, Atrial septal defect, S... |
OMIM:614261 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Ventricular septal defect, Block vertebrae, Patent ductus arteriosus, Hy... |
OMIM:164210 |
| Holoprosencephaly 3 |
|
Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Short columella, Holopr... |
OMIM:142945 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Beaking of vertebral bodies, Congenital kyphoscoliosis, Thoracic aortic aneurysm, Anteverted nare... |
ORPHA:536467 |
| Chromosome 14Q11-Q22 Deletion Syndrome |
|
Inguinal hernia, Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchid... |
OMIM:613457 |
| Perlman Syndrome |
|
Inguinal hernia, Anteverted nares, Cryptorchidism, Abnormal pancreas morphology, Hyperinsulinemia... |
ORPHA:2849 |
| Sheehan Syndrome |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:91355 |
| Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Abnor... |
ORPHA:353281 |
| Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Wide nasal bri... |
OMIM:222765 |
| Microcephaly 26, Primary, Autosomal Dominant |
|
Prominent nasal bridge, Dysplastic corpus callosum, Prominent eyelashes, Wide nasal bridge, Scoli... |
OMIM:619179 |
| Camptodactyly Syndrome, Guadalajara Type 1 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Spina bifida, Highly arched eyebrow, Syn... |
ORPHA:1327 |
| Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Depressed nasal bridge, Anteverted nares, Ovoid vertebral bodies, Short neck, Wide anterior fonta... |
ORPHA:163649 |
| Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Short neck, Hemivertebrae, Abnormal aortic arch morphology, Atrial septal defect, Frontal hirsuti... |
ORPHA:96334 |
| Ciliary Dyskinesia, Primary, 20 |
|
Atrial situs inversus, Ventricular septal defect, Dextrocardia, Situs inversus totalis, Pulmonary... |
OMIM:615067 |
| Marshall-Smith Syndrome |
|
Thoracic scoliosis, Brittle hair, Bilateral cryptorchidism, Synophrys, Choanal stenosis, Thoracic... |
OMIM:602535 |
| Trigonocephaly 1 |
|
Omphalocele, Synophrys, Wide nasal bridge, Lumbar hemivertebrae, Short nose |
OMIM:190440 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Streak ovary, Hypergonadotropic hypogonadism, Lumbar hyper... |
ORPHA:2232 |
| Ring Chromosome 7 Syndrome |
|
Anteverted nares, Prominent nasal bridge, Highly arched eyebrow, Situs inversus totalis, Low ante... |
ORPHA:1449 |
| Achondrogenesis |
|
Inguinal hernia, Anteverted nares, Short neck, Umbilical hernia, Short nose |
ORPHA:932 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Hypogonadotropic hyp... |
ORPHA:52901 |
| Holoprosencephaly-Craniosynostosis Syndrome |
|
Hypoplastic vertebral bodies, Holoprosencephaly |
ORPHA:2163 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Wide intermamillary distance, Abnormal hair pattern, Short neck, Kyphosis, Synophrys, Low posteri... |
ORPHA:2983 |
| Robinow Syndrome |
|
Fused thoracic vertebrae, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Br... |
ORPHA:97360 |
| Distal Deletion 15Q |
|
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Broad nasal ... |
ORPHA:1596 |
| Ververi-Brady Syndrome |
|
Wide nose, Broad nasal tip, Prominent nose, Bulbous nose, Transposition of the great arteries, Sc... |
OMIM:617982 |
| Trisomy 20P |
|
Short neck, Low anterior hairline, Abnormal form of the vertebral bodies, Vertebral segmentation ... |
ORPHA:261318 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Anteverted nares, Optic atrophy, Wide nasal bridge, Cardiomyopathy, Short nose |
OMIM:618437 |
| Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Sparse hair, Reduced circulating growth hormone concentration, Multiple muscular ventricular sept... |
OMIM:615508 |
| C Syndrome |
|
Omphalocele, Ventricular septal defect, Anteverted nares, Cryptorchidism, Patent ductus arteriosu... |
OMIM:211750 |
| Wolcott-Rallison Syndrome |
|
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Atrial septal defect, Doubl... |
ORPHA:1667 |
| Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Thoracic scoliosis, Inguinal hernia, Peripheral axonal neuropathy, Mitra... |
ORPHA:1900 |
| Pentalogy Of Cantrell |
|
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... |
ORPHA:1335 |
| Nabais Sa-De Vries Syndrome, Type 1 |
|
Sacral dimple, Depressed nasal bridge, Prominent nasal bridge, Optic nerve hypoplasia, Highly arc... |
OMIM:618828 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Short nose |
OMIM:245570 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrial septal defect, Abnormal vertebral morphology, Iris coloboma, Agenesis of pineal gland, Ant... |
ORPHA:536471 |
| Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Abnormal external nose morpholo... |
ORPHA:556955 |
| Absent Eyebrows And Eyelashes With Mental Retardation |
|
Encephalocele, Absent eyebrow, Absent eyelashes, Short nose, Convex nasal ridge |
OMIM:200130 |
| Iniencephaly |
|
Encephalocele, Omphalocele, Spina bifida, Hyperlordosis, Hydrocephalus, Myelomeningocele, Anencep... |
ORPHA:63259 |
| Arterial Tortuosity Syndrome |
|
Inguinal hernia, Hiatus hernia, Myocarditis, Pulmonary artery stenosis, Dilated cardiomyopathy, S... |
ORPHA:3342 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Anteverted nares, Cardiomegaly, Short neck, Wide nasal bridge, Platysp... |
OMIM:616897 |
| Pallister-Hall-Like Syndrome |
|
Occipital encephalocele, Depressed nasal bridge, Hydrocephalus, Hypothalamic hamartoma, Anterior ... |
OMIM:241800 |
| Congenital Disorder Of Glycosylation, Type Iu |
|
Short nose, Optic atrophy, Scoliosis |
OMIM:615042 |
| Dermotrichic Syndrome |
|
Aganglionic megacolon, Depressed nasal bridge, Nail dystrophy, Short nose, Abnormal vertebral mor... |
ORPHA:99688 |
| Fg Syndrome Type 1 |
|
Sacral dimple, Inguinal hernia, Choanal atresia, Optic nerve hypoplasia, Prominent nose, Cryptorc... |
ORPHA:93932 |
| Giant Axonal Neuropathy |
|
Facial palsy, Abnormal pituitary gland morphology, Diffuse axonal swelling, Scoliosis, Woolly hai... |
ORPHA:643 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Ovoid ver... |
OMIM:244450 |
| Loeys-Dietz Syndrome 6 |
|
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... |
OMIM:619656 |
| Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Wide nose, Diabetes mellitus, Anteverted nares, Kyphoscoliosis, Short neck, Synophrys, Low anteri... |
ORPHA:391408 |
| Hydrocephaly-Low Insertion Umbilicus Syndrome |
|
Communicating hydrocephalus, Wide nose, Long nose, Patent ductus arteriosus, Anomalous pulmonary ... |
ORPHA:2184 |
| Pituitary Adenoma 1, Multiple Types |
|
Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul... |
OMIM:102200 |
| Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... |
ORPHA:2235 |
| Potocki-Shaffer Syndrome |
|
Sparse lateral eyebrow, Short nose, Wide nasal bridge, Underdeveloped nasal alae |
OMIM:601224 |
| Holoprosencephaly, Semilobar, With Craniosynostosis |
|
Hypoplastic vertebral bodies, Semilobar holoprosencephaly |
OMIM:601370 |
| Aarskog-Scott Syndrome |
|
Inguinal hernia, Anteverted nares, Elevated circulating luteinizing hormone level, Short neck, Bi... |
OMIM:305400 |
| Methimazole Embryofetopathy |
|
Ventricular septal defect, Choanal atresia, Abnormality of the thyroid gland, Coarctation of aort... |
ORPHA:1923 |
| Distal Deletion 10Q |
|
Lumbar hyperlordosis, Prominent nasal bridge, Prominent nose, Patent ductus arteriosus, Widow's p... |
ORPHA:96148 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Short neck, Bulbous nose, Wide nasal bridge, Abnormal heart morphology, Retinal coloboma, Horizon... |
OMIM:618571 |
| Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Short neck, Partial agenesis of the corpus callosum, Synophrys, Wide nasal bridge, Fine hair, Tho... |
OMIM:620250 |
| Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Aspl... |
ORPHA:210122 |
| Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities |
|
Medial flaring of the eyebrow, Depressed nasal bridge, Hydrocephalus, Optic atrophy, Colpocephaly... |
OMIM:619833 |
| Severe X-Linked Intellectual Disability, Gustavson Type |
|
Ventricular septal defect, Recurrent upper respiratory tract infections, Optic atrophy, Lateral v... |
ORPHA:3078 |
| Holoprosencephaly 1 |
|
Diabetes insipidus, Adrenal hypoplasia, Alobar holoprosencephaly, Proboscis, Aplasia of the nose,... |
OMIM:236100 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Atrial septal defect... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Bicuspid aortic valve, Abnormal curvature of the vertebral column, Coloboma, Atrial septal defect... |
ORPHA:353277 |
| Chung-Jansen Syndrome |
|
Anteverted nares, Cryptorchidism, Synophrys, Short nose, Thick eyebrow |
OMIM:617991 |
| 16P12.1P12.3 Triplication Syndrome |
|
Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Bulbous nose, Ab... |
ORPHA:485405 |
| Trisomy 8P |
|
Sacral dimple, Anteverted nares, Abnormal atrioventricular connection, Depressed nasal bridge, Sh... |
ORPHA:264450 |
| X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
|
Absent gallbladder, Wide intermamillary distance, Ventricular septal defect, Choanal atresia, Und... |
ORPHA:163979 |
| Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Atrial septal defect, Precocious puberty, Anteverted nares, Short nose |
OMIM:619356 |
| Acrodysostosis 2 With Or Without Hormone Resistance |
|
Diabetes mellitus, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Spinal canal stenosi... |
OMIM:614613 |
| Fibrochondrogenesis 1 |
|
Omphalocele, Anteverted nares, Depressed nasal bridge, Short neck, Wide anterior fontanel, Platys... |
OMIM:228520 |
| Ruvalcaba Syndrome |
|
Inguinal hernia, Cryptorchidism, Kyphosis, Generalized hirsutism, Scoliosis, Delayed puberty, Abn... |
ORPHA:3121 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Inverted nipples, Anteverted nares, Depressed nasal bridge, Patent ductus arteriosus, Scoliosis, ... |
OMIM:615398 |
| Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Wide intermamillary distance, Hypogonadotropic hypogonadism, Female hypogonadism, Depressed nasal... |
ORPHA:432 |
| Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Kyphoscoliosis, Patent ductus arteriosus, Wide nasal bridge, Atrial septal defect, Short nose, Hy... |
OMIM:618005 |
| Meacham Syndrome |
|
Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Patent ductus arteriosus, Abno... |
ORPHA:3097 |
| Aortic Aneurysm, Familial Thoracic 10 |
|
Aortic arch aneurysm, Bicuspid aortic valve, Thoracic aortic aneurysm, Fusiform ascending tubular... |
OMIM:617168 |
| Femoral-Facial Syndrome |
|
Inguinal hernia, Maternal diabetes, Cryptorchidism, Abnormal sacrum morphology, Vertebral segment... |
ORPHA:1988 |
| Edinburgh Malformation Syndrome |
|
Anteverted nares, Choanal atresia, Hydrocephalus, Synophrys, Low posterior hairline, Short nose, ... |
ORPHA:1895 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Short nose, Patent foramen ovale, Inguinal hernia, Mitral valve prolapse |
OMIM:615539 |
| Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Ventricular septal defect, Hypogonadotropic hypogonadism, Depressed nasal bridge, ... |
OMIM:301030 |
| 15Q11.2 Microdeletion Syndrome |
|
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... |
ORPHA:261183 |
| Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Hyperlordosis, Depressed nasal ridge, Abnormal form of the vertebral bodies, Short nose |
ORPHA:2831 |
| 9q subtelomeric deletion syndrome |
|
Short nose, Anteverted nares, Synophrys, Abnormal heart morphology |
DECIPHER:52 |
| Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome |
|
Epistaxis, Pulmonary arteriovenous malformation, Cerebral arteriovenous malformation, Mitral valv... |
OMIM:175050 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Short neck, Sparse hair, Atrial septal defect, Dystrophic fingernails, Anteverted n... |
ORPHA:1340 |
| Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Anteverted nares, Choanal atresia, Depressed nasal bridge, Short neck, Bilateral cryptorchidism, ... |
OMIM:619859 |
| Au-Kline Syndrome |
|
Inverted nipples, Wide intermamillary distance, Sacral dimple, Wide nasal ridge, Supernumerary ni... |
OMIM:616580 |
| Fetal Valproate Spectrum Disorder |
|
Omphalocele, Short nose, Depressed nasal ridge |
ORPHA:1906 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 2 |
|
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Atrial septal defect, Short nose, Peri... |
OMIM:614749 |
| Glutamine Deficiency, Congenital |
|
Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Lateral ventricle dilatation, Neonat... |
OMIM:610015 |
| Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development |
|
Depressed nasal bridge, Cryptorchidism, Long eyelashes, Scoliosis, Absent axillary hair, Short no... |
OMIM:601353 |
| Familial Multiple Nevi Flammei |
|
Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Scoliosis, Abnormal cr... |
ORPHA:624 |
| Hartsfield Syndrome |
|
Wide nose, Diabetes insipidus, Alobar holoprosencephaly, Cryptorchidism, Gonadotropin deficiency,... |
OMIM:615465 |
| Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Anosmia, Abnormality of the vertebral column, Hypogonadism, Short nose, S... |
OMIM:302950 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Synophrys, Low anterior hairline, Coarse hair, Atrial septal defect, Neona... |
OMIM:612289 |
| Clark-Baraitser Syndrome |
|
Depressed nasal bridge, Anteverted nares, Short nose, Low hanging columella |
OMIM:617752 |
| Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature |
|
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Varicose veins... |
OMIM:126320 |
| Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Short nose, Optic atrophy |
ORPHA:1495 |
| Achondrogenesis Type 1B |
|
Umbilical hernia, Short nose, Anteverted nares, Short neck |
ORPHA:93298 |
| Feingold Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Anteverted nares, Asplenia, Pate... |
OMIM:164280 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Lumbar hyperlordosis, Thick hair, Short neck, Patent ductus arteriosus, Hydrocephalus, Optic atro... |
ORPHA:505248 |
| Congenital Total Pulmonary Venous Return Anomaly |
|
Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Cardiomegaly, Pa... |
ORPHA:99125 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Prominent nasal bridge, Optic nerve hypoplasia, Cryptorchidism, Sacrococcygeal... |
ORPHA:468631 |
| Townes-Brocks Syndrome 1 |
|
Ventricular septal defect, Choanal atresia, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Cho... |
OMIM:107480 |
| Intellectual Developmental Disorder, X-Linked 30 |
|
Hydrocephalus, Anteverted nares, Prominent nasal bridge, Short nose |
OMIM:300558 |
| Meckel Syndrome |
|
Encephalocele, Accessory spleen, Pancreatic fibrosis, Situs inversus totalis, Cryptorchidism, Pan... |
ORPHA:564 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Peripheral axonal neuropathy, Curly hair, Anteverted nares, Depressed nasal bridg... |
OMIM:115150 |
| Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent gallbladder, Diabetes insipidus, Depressed nasal bridge, Lobar holoprosencephaly, Semiloba... |
OMIM:618500 |
| Von Willebrand Disease |
|
Abnormal mitral valve morphology, Venous insufficiency |
ORPHA:903 |
| Prader-Willi Syndrome Due To Translocation |
|
Narrow nasal bridge, Hypopigmentation of hair, Hypogonadotropic hypogonadism, Decreased response ... |
ORPHA:177907 |
| Achondrogenesis Type 1A |
|
Umbilical hernia, Short nose, Anteverted nares, Short neck |
ORPHA:93299 |
| Bainbridge-Ropers Syndrome |
|
Synophrys, Choanal stenosis, Sparse hair, Anteverted nares, Depressed nasal bridge, Highly arched... |
OMIM:615485 |
| Kawasaki Disease |
|
Pericarditis, Abnormality of nail color, Abnormal heart valve morphology, Myocarditis, Cervical l... |
ORPHA:2331 |
| Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Beaking of vertebral bodies, Depressed nasal bridge, Thoracolumbar scoliosis, Kyphoscoliosis, Sho... |
ORPHA:457395 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 1 |
|
Decreased thyroid-stimulating hormone level, Anteverted nares, Anterior pituitary hypoplasia, Red... |
OMIM:613038 |
| Alg9-Cdg |
|
Omphalocele, Inverted nipples, Ventricular septal defect, Depressed nasal bridge, Underdeveloped ... |
ORPHA:79328 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, D... |
ORPHA:1791 |
| X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Hydrocephalus, Thick nasal alae, Short nose, Chorioretinal coloboma |
ORPHA:163961 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal eyelash morphology, Coarctation of aorta, Abnormal aortic morphology, Interrup... |
ORPHA:2396 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Patent ductus arteriosus, Short nose |
ORPHA:2547 |
| Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Wide nose, Lumbar hyperlordosis, Ventricular septal defect, Prominent nasal bridge, Convex nasal ... |
ORPHA:251028 |
| Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
Depressed nasal bridge, Anteverted nares, Short nose, Lateral ventricle dilatation |
OMIM:613443 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Wide intermamillary distance, Inguinal hernia, Anteverted nares, Sparse eyelashes, Underdeveloped... |
OMIM:613026 |
| Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities |
|
Inverted nipples, Depressed nasal bridge, Bulbous nose, Scoliosis, Short nose, Gynecomastia |
OMIM:618430 |
| Fetal Alcohol Syndrome |
|
Anteverted nares, Vertebral segmentation defect, Atrial septal defect, Short nose, Generalized hi... |
ORPHA:1915 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Neoplasm of the adrenal cortex, Wide nose, Anteverted nares, Intracranial hemorrhage, Thyroid car... |
ORPHA:109 |
| Desmosterolosis |
|
Depressed nasal bridge, Abnormality of the nose, Splenomegaly, Patent ductus arteriosus, Hydrocep... |
ORPHA:35107 |
| Micro Syndrome |
|
Anteverted nares, Cryptorchidism, Kyphosis, Optic atrophy, Wide nasal bridge, Retinal coloboma, S... |
ORPHA:2510 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Depressed nasal bridge, Kyphosis, Bulbous nose, Scoliosis, Short nose, Agenesis of corpus callosum |
ORPHA:261144 |
| Klippel-Trénaunay Syndrome |
|
Peripheral arteriovenous fistula, Venous insufficiency, Patent ductus arteriosus, Abnormal tricus... |
ORPHA:90308 |
| Arthrogryposis, Distal, Type 2A |
|
Inguinal hernia, Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Abnormal ... |
OMIM:193700 |
| Craniofacioskeletal Syndrome |
|
Absent gallbladder, Wide intermamillary distance, Ventricular septal defect, Choanal atresia, Cry... |
OMIM:300712 |
| Hypomandibular Faciocranial Dysostosis |
|
Anteverted nares, Patent ductus arteriosus, Optic disc coloboma, Choanal stenosis, Atrial septal ... |
ORPHA:1790 |
| Microphthalmia With Limb Anomalies |
|
Sacral dimple, Unilateral cryptorchidism, Depressed nasal bridge, Abnormal eyelash morphology, Fl... |
OMIM:206920 |
| Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... |
ORPHA:478 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Underdeveloped nas... |
OMIM:616007 |
| Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Venous insufficiency, Ovarian neoplasm, Arteriovenous malformation, Neoplasm of the breast, Lymph... |
ORPHA:137608 |
| Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr... |
OMIM:108900 |
| Al-Raqad Syndrome |
|
Atrial septal defect, Short nose |
OMIM:616459 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Hypoplastic sacrum, Broad nasal tip, Prominent nose, Sparse hair, Breast hypop... |
OMIM:614813 |
| Doors Syndrome |
|
Adrenal hyperplasia, Anteverted nares, Broad nasal tip, Bulbous nose, Wide nasal base, Wide nasal... |
ORPHA:79500 |
| Craniofacial-Deafness-Hand Syndrome |
|
Depressed nasal ridge, Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Short nose |
ORPHA:1529 |
| Schneckenbecken Dysplasia |
|
Ovoid vertebral bodies, Short neck, Platyspondyly, Stillbirth, Umbilical hernia, Short nose, Narr... |
OMIM:269250 |
| Nicolaides-Baraitser Syndrome |
|
Narrow nasal bridge, Absent eyebrow, Inguinal hernia, Dry hair, Anteverted nares, Sparse scalp ha... |
OMIM:601358 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Wide nose, Sacral dimple, Anteverted nares, Ventricular septal defect, Depressed nasal bridge, Sh... |
OMIM:613458 |
| Teebi Hypertelorism Syndrome 2 |
|
Depressed nasal bridge, Broad nasal tip, Wide anterior fontanel, Short nose, Thick eyebrow |
OMIM:619736 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Prominent nasal bridge, Wide nasal bridge, Fine hair,... |
ORPHA:978 |
| Prominent Glabella-Microcephaly-Hypogenitalism Syndrome |
|
Wide intermamillary distance, Prominent nasal bridge, Highly arched eyebrow, Short neck, Underdev... |
ORPHA:2083 |
| Tick-Borne Encephalitis |
|
Back pain, Facial palsy, Abnormal glossopharyngeal nerve morphology, Polyneuritis, Abnormal auton... |
ORPHA:297 |
| Peters Plus Syndrome |
|
Short neck, Bicuspid pulmonary valve, Abnormal pulmonary vein morphology, Spina bifida occulta, A... |
ORPHA:709 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ... |
OMIM:613834 |
| Jaberi-Elahi Syndrome |
|
Brittle hair, Depressed nasal bridge, Sparse eyelashes, Sparse eyebrow, Kyphosis, Optic atrophy, ... |
OMIM:617988 |
| Desmosterolosis |
|
Hypoplastic nasal bridge, Anteverted nares, Patent ductus arteriosus, Hydrocephalus, Partial agen... |
OMIM:602398 |
| Simpson-Golabi-Behmel Syndrome |
|
Omphalocele, Vertebral fusion, Inguinal hernia, Ventricular septal defect, Anteverted nares, Supe... |
ORPHA:373 |
| Transposition Of The Great Arteries, Dextro-Looped |
|
Transposition of the great arteries |
OMIM:608808 |
| Smith-Magenis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Precocious puberty, Synophrys, Wide nasal bridge, Abnor... |
ORPHA:819 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Curly hair, Brittle hair, Anteverted nares, Ventricular septal defect, Slow-... |
ORPHA:2710 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Cryptorchidism, Short nose, Depressed nasal bridge |
OMIM:616910 |
| Mosaic Variegated Aneuploidy Syndrome 1 |
|
Wide nose, Anteverted nares, Depressed nasal bridge, Short neck, Cryptorchidism, Hydrocephalus, P... |
OMIM:257300 |
| Acrodysostosis |
|
Anteverted nares, Depressed nasal bridge, Cryptorchidism, Depressed nasal ridge, Wide nasal bridg... |
ORPHA:950 |
| Acitretin/Etretinate Embryopathy |
|
Anteverted nares, Conotruncal defect, Hypoplastic nasal septum, Hypoplasia of the thymus, Atriove... |
ORPHA:40366 |
| Loeys-Dietz Syndrome 2 |
|
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... |
OMIM:610168 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Abnormal nasopharynx morphology, Inguinal hernia, Absence of Stensen duct, Dec... |
OMIM:129900 |
| Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Absent in utero ossification of vertebral bodies, Inguinal hernia... |
OMIM:608022 |
| Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Narrow nasal bridge, Short nose, Inguinal hernia, Scoliosis |
ORPHA:544503 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Anteverted nares, Optic atrophy, Coarse hair, Short nose, Spina bifida occulta |
ORPHA:1185 |
| Cutis Laxa, Autosomal Recessive, Type Iia |
|
Inguinal hernia, Brittle hair, Anteverted nares, Abnormality of hair texture, Wide anterior fonta... |
OMIM:219200 |
| Cebalid Syndrome |
|
Anteverted nares, Depressed nasal bridge, Highly arched eyebrow, Depressed nasal ridge, Short nos... |
OMIM:618774 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Depressed nasal bridge, Anteverted nares, Bulbous nose, Lateral ventricle dilatation, Sparse hair... |
OMIM:614105 |
| Desbuquois Dysplasia 1 |
|
Depressed nasal bridge, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Concave nasal ridge, ... |
OMIM:251450 |
| Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Ventricular septal defect, Decreased response to growth hormone stimulation test, Hypergonadotrop... |
OMIM:602782 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Anteverted nares, Decreased response to growth hormone stimulation test, Wide anterior ... |
OMIM:601853 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 4 |
|
Short nose, Wide nasal bridge, Lateral ventricle dilatation, Broad nasal tip |
OMIM:615716 |
| Distal Duplication 5Q |
|
Ventricular septal defect, Prominent nasal bridge, Dextrocardia, Cryptorchidism, Aplasia/Hypoplas... |
ORPHA:96097 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Inguinal hernia, Depressed nasal bridge, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Fin... |
ORPHA:1812 |
| Monosomy 13Q14 |
|
Prominent nasal bridge, Short neck, Wide nasal bridge, Holoprosencephaly, Iris coloboma |
ORPHA:1587 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Inguinal hernia, Internal carotid artery dissection, Bicuspid aortic valve, Th... |
OMIM:150230 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Ventricular septal defect, Decreased response to growth hormone stimulation test, Ant... |
ORPHA:444077 |
| Down Syndrome |
|
Depressed nasal bridge, Aganglionic megacolon, Short neck, Abnormality of the lymphatic system, D... |
ORPHA:870 |
| Musculocontractural Ehlers-Danlos Syndrome |
|
Inguinal hernia, Abnormal heart valve morphology, Cervical kyphosis, Kyphoscoliosis, Cryptorchidi... |
ORPHA:2953 |
| Ectodermal Dysplasia With Adrenal Cyst |
|
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia |
OMIM:129550 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Scoliosis, Atrial septal defect, Short... |
OMIM:614207 |
| Noonan Syndrome 3 |
|
Hypoplastic nasal bridge, Ventricular septal defect, Anteverted nares, Cryptorchidism, Patent duc... |
OMIM:609942 |
| Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Bulbous nose, Anteverted nares, Wide nasal bridge, Short nose |
OMIM:613604 |
| Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short nose, Intervertebral space narrowing, Wide nasal bridge |
OMIM:614078 |
| Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Anteverted nares, Dilatation of the cerebral artery, Platyspondyly, Coarse hair, Scoliosis, Short... |
OMIM:612394 |
| Telangiectasia, Hereditary Hemorrhagic, Type 4 |
|
Spontaneous, recurrent epistaxis, Transient ischemic attack, Pulmonary arteriovenous malformation... |
OMIM:610655 |
| Specc1L-Related Hypertelorism Syndrome |
|
Omphalocele, Ventricular septal defect, Prominent nasal bridge, Highly arched eyebrow, Cryptorchi... |
ORPHA:1519 |
| Smith-Kingsmore Syndrome |
|
Curly hair, Depressed nasal bridge, Cryptorchidism, Wide anterior fontanel, Umbilical hernia, Sho... |
OMIM:616638 |
| 5Q14.3 Microdeletion Syndrome |
|
Short nose, Anteverted nares, Optic nerve hypoplasia, Thick eyebrow |
ORPHA:228384 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Long nose, Hypopla... |
ORPHA:508533 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hydrocephalus, Depressed nasal ridge, Platyspondyly, Short nose |
OMIM:300863 |
| Non-Functioning Pituitary Adenoma |
|
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... |
ORPHA:91349 |
| Tetrasomy 18P |
|
Short nose, Scoliosis |
ORPHA:3307 |
| Zttk Syndrome |
|
Absent gallbladder, Curly hair, Ventricular septal defect, Depressed nasal bridge, Sparse eyebrow... |
OMIM:617140 |
| Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Short nose |
ORPHA:833 |
| Omodysplasia 1 |
|
Ventricular septal defect, Depressed nasal bridge, Short neck, Cryptorchidism, Pulmonary artery s... |
OMIM:258315 |
| Trisomy 12P |
|
Supernumerary nipple, Short neck, Wide nasal bridge, Short nose, Thick eyebrow |
ORPHA:1699 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Vertebral segmentation defect, Atrial septal defect, Agenesis of corpus callosum, Wide intermamil... |
OMIM:312870 |
| Khan-Khan-Katsanis Syndrome |
|
Sacral dimple, Patent ductus arteriosus after premature birth, Highly arched eyebrow, Trichiasis,... |
OMIM:618460 |
| 3Q29 Microdeletion Syndrome |
|
Prominent nasal bridge, Patent ductus arteriosus, Subvalvular aortic stenosis, Six lumbar vertebr... |
ORPHA:65286 |
| Pde4D Haploinsufficiency Syndrome |
|
Depressed nasal bridge, Prominent nose, Cryptorchidism, Irregular vertebral endplates, Elevated c... |
ORPHA:439822 |
| Tetrasomy 12P |
|
Anteverted nares, Short neck, Sparse eyebrow, Sparse hair, Short nose |
ORPHA:884 |
| Zimmermann-Laband Syndrome 1 |
|
Aortic arch aneurysm, Thick eyebrow, Thick hair, Highly arched eyebrow, Broad nasal tip, Splenome... |
OMIM:135500 |
| Otopalatodigital Syndrome Type 2 |
|
Encephalocele, Omphalocele, Abnormal heart valve morphology, Depressed nasal bridge, Myelomeningo... |
ORPHA:90652 |
| Macrocephaly/Autism Syndrome |
|
Dilation of Virchow-Robin spaces, Depressed nasal bridge, Splenomegaly, Hydrocele testis, Coarse ... |
OMIM:605309 |
| Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Depressed nasal bridge, Decreased response to growth hormone stimulation test, Adrenal hypoplasia... |
OMIM:614732 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Aganglionic megacolon, Highly arched eyebrow, Broad nasal tip, Hydrocephalus, Wide nasal bridge, ... |
OMIM:239300 |
| Pterygium Colli, Isolated |
|
Short nose, Low posterior hairline |
OMIM:177990 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Depressed nasal bridge, Anteverted nares, Decreased response to growth hormone... |
OMIM:615866 |
| Lathosterolosis |
|
Foam cells with lamellar inclusion bodies, Anteverted nares, Bilobate gallbladder, Lumbosacral me... |
OMIM:607330 |
| Gabriele-De Vries Syndrome |
|
Decreased response to growth hormone stimulation test, Sparse eyebrow, Patent foramen ovale, Cryp... |
ORPHA:506358 |
| Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Depressed nasal bridge, Anteverted nares, Abnormal hair pattern, Und... |
ORPHA:920 |
| Holoprosencephaly 4 |
|
Depressed nasal tip, Depressed nasal bridge, Absent nasal septal cartilage, Semilobar holoprosenc... |
OMIM:142946 |
| Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis |
|
Depressed nasal bridge, Long nose, Hydrocephalus, Optic atrophy, Scoliosis, Short nose, Hypertric... |
OMIM:618590 |
| Marshall-Smith Syndrome |
|
Anteverted nares, Choanal atresia, Optic atrophy, Scoliosis, Short nose, Generalized hirsutism |
ORPHA:561 |
| Gangliocytoma |
|
Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar... |
ORPHA:251937 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Sacral dimple, Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Wide nasal brid... |
OMIM:613603 |
| Warburg Micro Syndrome 3 |
|
Wide intermamillary distance, Kyphoscoliosis, Low anterior hairline, Optic atrophy, Short nose, D... |
OMIM:614222 |
| Facial Paresis, Hereditary Congenital, 3 |
|
Depressed nasal bridge, Anteverted nares, Facial palsy, Short nose |
OMIM:614744 |
| Johanson-Blizzard Syndrome |
|
Alopecia, Diabetes mellitus, Dextrocardia, Abnormal hair pattern, Underdeveloped nasal alae, Abno... |
ORPHA:2315 |
| Pontocerebellar Hypoplasia, Type 10 |
|
Kyphoscoliosis, Underdeveloped nasal alae, Short neck, Cryptorchidism, Bulbous nose, Synophrys, H... |
OMIM:615803 |
| Cerebrofaciothoracic Dysplasia |
|
Wide nose, Abnormal hair pattern, Short neck, Synophrys, Hemivertebrae, Low posterior hairline, V... |
ORPHA:1394 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Bicuspid aortic valve, Synophrys, Abnormal curvature of the vertebral column, Coloboma... |
OMIM:619475 |
| Gaucher Disease, Type Ii |
|
Splenomegaly, Double aortic arch |
OMIM:230900 |
| Diaphragmatic Hernia 4, With Cardiovascular Defects |
|
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Cryptorchi... |
OMIM:620025 |
| Microcephalic Primordial Dwarfism, Dauber Type |
|
Bilateral breast hypoplasia, Lumbar scoliosis, Prominent nose |
ORPHA:319675 |
| Fg Syndrome 5 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:300581 |
| Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Thymus hyperplasia, Anteverted nares, Venous insufficiency, Splenome... |
ORPHA:2969 |
| Perlman Syndrome |
|
Depressed nasal bridge, Cryptorchidism, Wide nasal bridge, Pancreatic islet-cell hyperplasia, Int... |
OMIM:267000 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
| Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures |
|
Bulbous nose, Wide nasal bridge, Short nose |
OMIM:620292 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hydrocephalus, Depressed nasal ridge, Platyspondyly, Short nose |
ORPHA:163966 |
| Non-Distal Duplication 13Q |
|
Wide intermamillary distance, Abnormal eyelash morphology, Cryptorchidism, Synophrys, Short nose,... |
ORPHA:1702 |
| Stuve-Wiedemann Syndrome 1 |
|
Anteverted nares, Ovoid vertebral bodies, Short neck, Pulmonary arterial medial hypertrophy, Abno... |
OMIM:601559 |
| Robinow Syndrome, Autosomal Recessive 2 |
|
Omphalocele, Anteverted nares, Bicuspid aortic valve, Broad nasal tip, Wide nasal bridge, Long ey... |
OMIM:618529 |
| Adult Syndrome |
|
Wide intermamillary distance, Sparse scalp hair, Absent nipple, Fair hair, Sparse axillary hair, ... |
OMIM:103285 |
| Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia |
|
Optic disc pallor, Prominent nasal bridge, Optic nerve hypoplasia, Broad nasal tip, Wide nasal br... |
OMIM:300749 |
| Ulnar-Mammary Syndrome |
|
Inverted nipples, Ectopic posterior pituitary, Inguinal hernia, Ventricular septal defect, Anteri... |
OMIM:181450 |
| Fibrochondrogenesis 2 |
|
Short nose, Anteverted nares, Platyspondyly |
OMIM:614524 |
| Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Hurthle cell thyroid adenoma, Depressed nasal bridge, Thyroid carcinoma, Short nose |
ORPHA:210548 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Prominent superficial veins, Brittle hair, Alopecia, Narrow nasal ridge, Insulin-resistant diabet... |
OMIM:608612 |
| Tetrasomy 5P |
|
Anteverted nares, Short neck, Wide anterior fontanel, Hydrocephalus, Wide nasal bridge, Short nose |
ORPHA:3309 |
| Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Highly arched eyebrow, Prominent nose, Bulbous nose, Depressed nasal ridge, Hemivertebrae, Low po... |
OMIM:156200 |
| 46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormal peripheral myelination, Increased circulating gonadotropin level, Testicul... |
ORPHA:168563 |
| Acrocallosal Syndrome |
|
Inguinal hernia, Abnormal pulmonary valve morphology, Cryptorchidism, Wide anterior fontanel, Opt... |
OMIM:200990 |
| Syndromic Diarrhea |
|
Inguinal hernia, Brittle hair, Bicuspid aortic valve, Ventricular septal defect, Hypopigmentation... |
ORPHA:84064 |
| Premature Aging Syndrome, Penttinen Type |
|
Prominent superficial veins, Aplasia of the nasal bone, Prominent nasal bridge, Elevated circulat... |
OMIM:601812 |
| Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Anteverted nares, Ventricular septal defect, Choanal atresia, Atrial septal defect, Short nose |
OMIM:610536 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Anteverted nares, Short neck, Patent ductus arteriosus, Synophrys, Hydrocele testis, Aortic root ... |
ORPHA:280633 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2 |
|
Depressed nasal bridge, Recurrent upper respiratory tract infections, Anteverted nares, Short nose |
OMIM:614069 |
| Peho Syndrome |
|
Short nose, Optic atrophy, Peripheral dysmyelination |
OMIM:260565 |
| Microtia |
|
Holoprosencephaly |
ORPHA:83463 |
| Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Short nose, Optic atrophy, Low anterior hairline, Scoliosis |
ORPHA:329178 |
| Autosomal Recessive Cutis Laxa Type 2, Classic Type |
|
Inguinal hernia, Anteverted nares, Thick hair, Broad nasal tip, Prominent veins on trunk, Promine... |
ORPHA:357074 |
| Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
| Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd... |
ORPHA:91350 |
| Atelosteogenesis, Type I |
|
Encephalocele, Depressed nasal bridge, Short neck, Thoracic platyspondyly, Cryptorchidism, Fused ... |
OMIM:108720 |
| Pontocerebellar Hypoplasia, Type 2E |
|
Wide nose, Optic atrophy, Scoliosis, Short nose |
OMIM:615851 |
| Alkuraya-Kucinskas Syndrome |
|
Anteverted nares, Depressed nasal bridge, Pericardial effusion, Hydrocephalus, Short nose |
OMIM:617822 |
| Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Bulbous nose, Con... |
OMIM:271510 |
| Pituitary Carcinoma |
|
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... |
ORPHA:300385 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Complete atrioventricular canal defect, Kyphosis, Synophrys, Scoliosis, Short nose |
ORPHA:476126 |
| Melanocytic Nevus Syndrome, Congenital |
|
Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip |
OMIM:137550 |
| Chromosome 3Q29 Duplication Syndrome |
|
Bulbous nose, Wide nasal bridge, Short nose, Low posterior hairline |
OMIM:611936 |
| Monosomy 9Q22.3 |
|
Ovarian fibroma, Short neck, Kyphosis, Hydrocephalus, Cardiac fibroma, Abnormality of the vertebr... |
ORPHA:77301 |
| Oculodentodigital Dysplasia |
|
Narrow nasal bridge, Dry hair, Anteverted nares, Slow-growing hair, Underdeveloped nasal alae, Fi... |
OMIM:164200 |
| Panhypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95513 |
| Meier-Gorlin Syndrome 2 |
|
Breast hypoplasia, Underdeveloped nasal alae |
OMIM:613800 |
| Duplication Of The Pituitary Gland |
|
Encephalocele, Abnormality of the cervical spine, Thoracic scoliosis, Abnormal odontoid process m... |
ORPHA:314621 |
| 20Q11.2 Microduplication Syndrome |
|
Sacral dimple, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Cryptorchidism, Wide na... |
ORPHA:363659 |
| Ohdo Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sparse eyebrow, Cryptorchidism, Wide nasal bridge, Shor... |
OMIM:249620 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Anteverted nares, Underdeveloped nasal alae, Meningocele, Chorioretinal coloboma, Short nose |
ORPHA:2031 |
| Cenani-Lenz Syndrome |
|
Abnormal form of the vertebral bodies, Scoliosis, Short nose, Hypothyroidism, Convex nasal ridge |
ORPHA:3258 |
| Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism, Short nose, Synophrys |
OMIM:300143 |
| Degcags Syndrome |
|
Prominent nose, Synophrys, Low anterior hairline, Premature graying of hair, Atrial septal defect... |
OMIM:619488 |
| Enlarged Parietal Foramina |
|
Occipital encephalocele, Myelomeningocele, Abnormal cerebral vein morphology, Venous malformation |
ORPHA:60015 |
| Mandibulofacial Dysostosis-Microcephaly Syndrome |
|
Atrial septal defect, Short nose |
ORPHA:79113 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Agenesis of corpus callosum, Hyp... |
OMIM:618748 |
| Neu-Laxova Syndrome 1 |
|
Wide nose, Ventricular septal defect, Spina bifida, Short neck, Absent eyelashes, Cryptorchidism,... |
OMIM:256520 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Prominent eyelashes, Bulbous nose, Anteverted nares, Short nose |
OMIM:616420 |
| Gaucher Disease, Perinatal Lethal |
|
Depressed nasal bridge, Anteverted nares, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Neonata... |
OMIM:608013 |
| Acrofacial Dysostosis, Catania Type |
|
Inguinal hernia, Abnormal hair pattern, Cryptorchidism, Coarse hair, Short nose, Spina bifida occ... |
ORPHA:1786 |
| Ctcf-Related Neurodevelopmental Disorder |
|
Sacral dimple, Inguinal hernia, Anteverted nares, Highly arched eyebrow, Broad nasal tip, Cryptor... |
ORPHA:363611 |
| Craniosynostosis, Herrmann-Opitz Type |
|
Short nose, Convex nasal ridge |
ORPHA:2145 |
| Kaposi Sarcoma |
|
Venous insufficiency, Abnormality of the spleen, Generalized lymphadenopathy |
ORPHA:33276 |
| Combined Oxidative Phosphorylation Deficiency 25 |
|
Anteverted nares, Depressed nasal bridge, Intraventricular hemorrhage, Wide nasal bridge, Short n... |
OMIM:616430 |
| Opsismodysplasia |
|
Abnormally ossified vertebrae, Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies... |
ORPHA:2746 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Depressed nasal bridge, Anteverted nares, Abnormal heart morphology, Short nose, Sparse lateral e... |
ORPHA:314655 |
| Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Sacral dimple, Inguinal hernia, Anteverted nares, Cryptorchidism, Wide nasal bridge,... |
OMIM:247200 |
| Meier-Gorlin Syndrome 3 |
|
Prominent nasal bridge, Sparse axillary hair, Sparse pubic hair, Cryptorchidism, Breast hypoplasia |
OMIM:613803 |
| Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Anteverted nares, Coarctation of aorta, Platyspondyly, Short nose |
ORPHA:50945 |
| Okamoto Syndrome |
|
Omphalocele, Facial hypertrichosis, Ventricular septal defect, Anteverted nares, Depressed nasal ... |
ORPHA:2729 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Vertebral fusion, Inguinal hernia, Hypoplastic sacrum, Depressed nasal bridge, Anteverted nares, ... |
OMIM:268310 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Axonal degeneration, Abnormal sensory nerve conduction velocity, Scoliosis, Abnormal pe... |
ORPHA:88628 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Depressed nasal bridge, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Short nose |
OMIM:616723 |
| Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities |
|
Short nose, Anteverted nares |
OMIM:619854 |
| Rhombencephalosynapsis |
|
Septo-optic dysplasia, Anteverted nares, Aganglionic megacolon, Hydrocephalus, Fusion of the left... |
ORPHA:59315 |
| Foix-Alajouanine Syndrome |
|
Back pain, Low back pain, Myelopathy, Cervical myelopathy, Arteriovenous fistula, Venous malforma... |
ORPHA:79093 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
| Williams Syndrome |
|
Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, Abnormal form of the ... |
ORPHA:904 |
| Nablus Mask-Like Facial Syndrome |
|
Wide intermamillary distance, Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Sh... |
OMIM:608156 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:745 |
| Geleophysic Dysplasia 2 |
|
Tricuspid stenosis, Ovoid vertebral bodies, Mitral valve prolapse, Aortic valve stenosis, Mitral ... |
OMIM:614185 |
| Otopalatodigital Syndrome, Type I |
|
Omphalocele, Wide nasal bridge, Nail dystrophy, Scoliosis, Short nose |
OMIM:311300 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Patent ductus arteriosus, Hydrocele testis, Atrial sept... |
OMIM:614080 |
| Adenohypophysitis |
|
Decreased circulating cortisol level, Orthostatic hypotension, Reduced circulating prolactin conc... |
ORPHA:95512 |
| Fetal Hydantoin Syndrome |
|
Wide intermamillary distance, Cryptorchidism, Depressed nasal ridge, Low posterior hairline, Coar... |
ORPHA:1912 |
| Meningioma |
|
Back pain, Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circ... |
ORPHA:2495 |
| Acromesomelic Dysplasia 1 |
|
Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpediculate narrownes... |
OMIM:602875 |
| Alagille Syndrome 1 |
|
Ventricular septal defect, Depressed nasal bridge, Butterfly vertebral arch, Long nose, Bulbous n... |
OMIM:118450 |
| Deeah Syndrome |
|
Wide intermamillary distance, Cervical hemivertebrae, Decreased response to growth hormone stimul... |
OMIM:619004 |
| Helsmoortel-Van Der Aa Syndrome |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Facial palsy, Broad nasa... |
OMIM:615873 |
| Meier-Gorlin Syndrome 4 |
|
Cryptorchidism, Breast hypoplasia |
OMIM:613804 |
| Baller-Gerold Syndrome |
|
Narrow nasal bridge, Prominent nasal bridge, Abnormal cardiac septum morphology, Scoliosis, Short... |
ORPHA:1225 |
| Restrictive Dermopathy |
|
Thoracic kyphoscoliosis, Aplasia/Hypoplasia involving the nose, Dextrocardia, Choanal atresia, Sh... |
ORPHA:1662 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Short nose |
ORPHA:289266 |
| 1P36 Deletion Syndrome |
|
Abnormality of the spleen, Depressed nasal ridge, Hypothyroidism, Agenesis of corpus callosum, Ge... |
ORPHA:1606 |
| Prolidase Deficiency |
|
Depressed nasal bridge, Splenomegaly, Low posterior hairline, Concave nasal ridge, Facial hirsuti... |
OMIM:170100 |
| Loeys-Dietz Syndrome 3 |
|
Tortuous cerebral arteries, Bicuspid aortic valve, Atrial septal defect, Spondylolisthesis, Abdom... |
OMIM:613795 |
| Meier-Gorlin Syndrome 1 |
|
Cryptorchidism, Long eyelashes, Hemivertebrae, Breast hypoplasia |
OMIM:224690 |
| Brain Malformations With Or Without Urinary Tract Defects |
|
Anteverted nares, Agenesis of corpus callosum, Inguinal hernia, Short nose |
OMIM:613735 |
| Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Kyphoscoliosis, Cryptorchidism, Umbilica... |
OMIM:616331 |
| Bilateral Polymicrogyria |
|
Facial diplegia, Abnormal glossopharyngeal nerve morphology, Central hypothyroidism |
ORPHA:268940 |
| Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits |
|
Sparse hair, Short nose, Hirsutism |
OMIM:618087 |
| Achondrogenesis, Type Ia |
|
Hypoplastic nasal bridge, Hypoplastic sacrum, Anteverted nares, Depressed nasal bridge, Short nec... |
OMIM:200600 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Patent ductus arteriosus, Coarctation of aorta, Interrupted aortic arch, Hypertrophic cardiomyopa... |
ORPHA:17 |
| Microlissencephaly-Micromelia Syndrome |
|
Hypoparathyroidism, Short neck, Abnormal circulating calcium-phosphate regulating hormone concent... |
ORPHA:50810 |
| Opsismodysplasia |
|
Depressed nasal bridge, Anteverted nares, Short neck, Hypoplasia of the odontoid process, Hypopla... |
OMIM:258480 |
| Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Lumbar hyperlordosis, Abnormal location of the eyebrow, Widow's peak, Horizontal eyebrow, Scolios... |
ORPHA:522077 |
| X-Linked Intellectual Disability, Cantagrel Type |
|
Short nose |
ORPHA:85277 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy |
OMIM:256600 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent gallbladder, Curly hair, Lumbar hyperlordosis, Transient ischemic attack, Depressed nasal ... |
ORPHA:500150 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Venous insufficiency, Abnormal cerebral vascular morphology |
ORPHA:743 |
| Malan Syndrome |
|
Short nose, Scoliosis |
OMIM:614753 |
| Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Inguinal hernia, Streak ovary, Aganglionic megacolon, Kyphoscoliosis, Br... |
ORPHA:798 |
| Atrial Septal Defect 1 |
|
Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec... |
OMIM:108800 |
| Spondylocarpotarsal Synostosis Syndrome |
|
Vertebral fusion, Inguinal hernia, Anteverted nares, Block vertebrae, Short neck, Broad nasal tip... |
OMIM:272460 |
| Williams-Beuren Syndrome |
|
Bicuspid aortic valve, Premature graying of hair, Early onset of sexual maturation, Atrial septal... |
OMIM:194050 |
| Angioosteohypotrophic Syndrome |
|
Prominent superficial veins, Venous malformation |
ORPHA:75508 |
| Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Splenomegaly, Scoliosis, Venous malformation, Spinal dysraphism |
OMIM:612918 |
| Prolactinoma |
|
Abnormal hair quantity, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating ... |
ORPHA:2965 |
| Diamond-Blackfan Anemia 8 |
|
Short nose, Wide nasal bridge |
OMIM:612563 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Depressed nasal bridge, Anteverted nares, Highly arched eyebrow, Underdeveloped nasal alae, Crypt... |
OMIM:619005 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Anteverted nares, Highly arched eyebrow, Short neck, Cryptorchidism, Patent ductus arteriosus, Wi... |
ORPHA:2282 |
| Monosomy 9P |
|
Wide intermamillary distance, Anteverted nares, Choanal atresia, Depressed nasal bridge, Short ne... |
ORPHA:261112 |
| Tetrasomy 9P |
|
Absent gallbladder, Pericarditis, Juxtaductal coarctation of the aorta, Sacral dimple, Dextrocard... |
ORPHA:3310 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... |
ORPHA:276280 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis, Transient ischemic attack, ... |
OMIM:187300 |
| Mowat-Wilson Syndrome |
|
Ventricular septal defect, Pulmonary artery sling, Supernumerary nipple, Aganglionic megacolon, C... |
OMIM:235730 |
| Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly |
|
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... |
OMIM:600460 |
| Isotretinoin Embryopathy-Like Syndrome |
|
Hydrocephalus, Conotruncal defect |
OMIM:243440 |
| Thoracoabdominal Syndrome |
|
Omphalocele, Hydrocephalus, Patent ductus arteriosus, Anencephaly, Transposition of the great art... |
OMIM:313850 |
| Craniopharyngioma |
|
Enlarged pituitary gland, Papilledema, Hypogonadotropic hypogonadism, Abnormal nasal bone morphol... |
ORPHA:54595 |
| Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features |
|
Depressed nasal bridge, Highly arched eyebrow, Short nose, Broad columella, Thick eyebrow |
OMIM:617865 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyelashes, Underdeveloped nasal alae, Sparse eyebrow, Widow's peak, Wide nasal bridge, Bif... |
ORPHA:306542 |
| Adams-Oliver Syndrome 1 |
|
Encephalocele, Alopecia, Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, ... |
OMIM:100300 |
| Poikiloderma With Neutropenia |
|
Depressed nasal bridge, Underdeveloped nasal alae, Sparse eyebrow, Splenomegaly, Low posterior ha... |
OMIM:604173 |
| Chime Syndrome |
|
Ventricular septal defect, Aplasia/Hypoplasia of the nipples, Depressed nasal ridge, Tetralogy of... |
ORPHA:3474 |
| Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Anteverted nares, Depressed nasal bridg... |
OMIM:269150 |
| Autosomal Dominant Omodysplasia |
|
Cryptorchidism, Short nose, Depressed nasal bridge |
ORPHA:93328 |
| Alzahrani-Kuwahara Syndrome |
|
Optic disc pallor, Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement,... |
OMIM:619268 |
| X-Linked Acrogigantism |
|
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... |
ORPHA:300373 |
| Milroy Disease |
|
Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy |
|
Short nose, Long eyelashes, Depressed nasal bridge |
OMIM:617802 |
| Familial Bicuspid Aortic Valve |
|
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... |
ORPHA:402075 |
| Vater/Vacterl Association |
|
Occipital encephalocele, Abnormal nasopharynx morphology, Ventricular septal defect, Choanal atre... |
OMIM:192350 |
| Congenital Tracheal Stenosis |
|
Ventricular septal defect, Ascending aorta hypoplasia, Patent ductus arteriosus, Hypoplastic left... |
ORPHA:141127 |
| Trisomy 10P |
|
Absent gallbladder, Depressed nasal bridge, Anteverted nares, Abnormal auditory evoked potentials... |
ORPHA:171929 |
| Autosomal Dominant Robinow Syndrome |
|
Wide nose, Sacral dimple, Depressed nasal bridge, Anteverted nares, Inguinal hernia, Short neck, ... |
ORPHA:3107 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Short nose |
OMIM:618618 |
| Tsh-Secreting Pituitary Adenoma |
|
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... |
ORPHA:91347 |
| Distal Deletion 9P |
|
Wide intermamillary distance, Short nose, Wide nasal bridge, Short neck |
ORPHA:1642 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anteverted nares, Prominent nasal bridge, Proboscis, Optic nerve hypoplasia, Spars... |
OMIM:605627 |
| Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Hypogonadotropic hypogonadism, Synophrys, Anosmia, Abnormal nostril morphology, Short nose |
ORPHA:1295 |
| Pfeiffer Syndrome |
|
Depressed nasal bridge, Choanal atresia, Hydrocephalus, Choanal stenosis, Short nose |
OMIM:101600 |
| Autosomal Recessive Omodysplasia |
|
Cryptorchidism, Depressed nasal bridge, Anteverted nares, Short nose |
ORPHA:93329 |
| Peho Syndrome |
|
Hydrocephalus, Optic atrophy, Anteverted nares, Short nose |
ORPHA:2836 |
| Raine Syndrome |
|
Depressed nasal bridge, Choanal atresia, Highly arched eyebrow, Short neck, Hydrocephalus, Choana... |
OMIM:259775 |
| Kleefstra Syndrome 1 |
|
Cryptorchidism, Synophrys, Anteverted nares, Conotruncal defect |
OMIM:610253 |
| Carey-Fineman-Ziter Syndrome |
|
Short nose, Anteverted nares, Facial palsy, Scoliosis |
ORPHA:1358 |
| Bartsocas-Papas Syndrome |
|
Alopecia totalis, Underdeveloped nasal alae, Sparse or absent eyelashes, Short nose, Aplasia/Hypo... |
ORPHA:1234 |
| Witteveen-Kolk Syndrome |
|
Decreased response to growth hormone stimulation test, Intracranial hemorrhage, Iris coloboma, Me... |
OMIM:613406 |
| Sponastrime Dysplasia |
|
Aplasia of the nasal bone, Wide nose, Anteverted nares, Depressed nasal bridge, Lumbar hyperlordo... |
ORPHA:93357 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Kyphosis, Optic atrophy, Congenital hypothyroidism, Short nose, Hirsutism |
OMIM:617527 |
| 19P13.13 Microdeletion Syndrome |
|
Depressed nasal bridge, Anteverted nares, Optic nerve hypoplasia, Optic atrophy, Long eyelashes, ... |
ORPHA:357001 |
| Congenital Myopathy 22B, Severe Fetal |
|
Thoracic scoliosis, Short neck, Spinal rigidity, Synophrys, Wide nasal bridge, Scoliosis, Short nose |
OMIM:620369 |
| Arteriovenous Malformations Of The Brain |
|
Cerebral arteriovenous malformation |
OMIM:108010 |
| Carpenter Syndrome 2 |
|
Wide intermamillary distance, Anteverted nares, Dextrocardia, Supernumerary nipple, Depressed nas... |
OMIM:614976 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Short nose |
ORPHA:1389 |
| Bartsocas-Papas Syndrome 1 |
|
Omphalocele, Absent eyebrow, Inguinal hernia, Alopecia, Wide intermamillary distance, Alopecia to... |
OMIM:263650 |
| Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1 |
|
Short nose, Epistaxis, Cerebral hemorrhage |
OMIM:277450 |
| Meier-Gorlin Syndrome 6 |
|
Anteverted nares, Decreased response to growth hormone stimulation test, Depressed nasal bridge, ... |
OMIM:616835 |
| Intellectual Developmental Disorder, X-Linked 98 |
|
Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long... |
OMIM:300912 |
| Trichothiodystrophy 1, Photosensitive |
|
Brittle hair, Trichoschisis, Trichorrhexis nodosa, Fine hair, Hypogonadism, Nail dystrophy, Spars... |
OMIM:601675 |
| 16P11.2P12.2 Microdeletion Syndrome |
|
Anteverted nares, Long nose, Bulbous nose, Absent nasal bridge, Short nose |
ORPHA:261211 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Inguinal hernia, Short neck, Cryptorchidism, Wide nasal bridge, Total anomalous pulmonary venous ... |
OMIM:609945 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Hepatic arteriovenous malformation, Spontaneous, recurrent epistaxis, Transient ischemic attack, ... |
OMIM:600376 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Absent nipple, Depressed nasal bridge, Brittle hair, Sparse eyelashes, Underdevel... |
OMIM:305100 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Depressed nasal bridge, Sparse eyelashes, Kyphoscoli... |
OMIM:268400 |
| Warburg Micro Syndrome 2 |
|
Prominent nasal bridge, Cryptorchidism, Low anterior hairline, Optic atrophy, Short nose |
OMIM:614225 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Sparse eyelashes, Sparse eyebrow, Wide nasal bridge, Sp... |
ORPHA:560 |
| Ehlers-Danlos Syndrome, Musculocontractural Type, 1 |
|
Hiatus hernia, Cryptorchidism, Mitral valve prolapse, Short columella, Tricuspid valve prolapse, ... |
OMIM:601776 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Kyphosis, Short nose, Optic atrophy, Hirsutism |
ORPHA:521426 |
| Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Short nose, Depressed nasal bridge |
ORPHA:2835 |
| Juvenile Polyposis Syndrome |
|
Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Transient ischemic attack, Depressed ... |
ORPHA:2929 |
| Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Optic disc pallor, Bicuspid aortic valve, Ventricular septal defect, Abnormality of the endocrine... |
ORPHA:438213 |
| Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Ventricular septal defect, Anteverted nares, Broad nasal tip, Long nose, Cryptorchidism, Patent d... |
OMIM:619522 |
| Pfeiffer Syndrome Type 2 |
|
Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Hydrocephalus, Short nose |
ORPHA:93259 |
| Lathosterolosis |
|
Abnormal thoracic spine morphology, Anteverted nares, Bulbous nose, Meningocele, Short nose |
ORPHA:46059 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
|
Depressed nasal bridge, Anteverted nares, Short nose |
OMIM:242860 |
| Multiple Endocrine Neoplasia, Type I |
|
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... |
OMIM:131100 |
| Livedoid Vasculopathy |
|
Diabetes mellitus, Abnormal capillary morphology, Abnormality of the peripheral nervous system, V... |
ORPHA:542643 |
| Pallister-Killian Syndrome |
|
Short neck, Atrial septal defect, Sparse hair, Alopecia, Anteverted nares, Depressed nasal bridge... |
OMIM:601803 |
| Acrocephalopolydactylous Dysplasia |
|
Omphalocele, Pancreatic fibrosis, Short neck, Polysplenia, Short nose |
OMIM:200995 |
| Clapo Syndrome |
|
Lymphangioma, Varicose veins, Ganglioneuroma, Venous malformation |
ORPHA:168984 |
| Wiedemann-Steiner Syndrome |
|
Sacral dimple, Decreased response to growth hormone stimulation test, Synophrys, Wide nasal bridg... |
ORPHA:319182 |
| Menkes Disease |
|
Inguinal hernia, Hypopigmentation of hair, Venous insufficiency, Woolly hair, Arterial stenosis, ... |
ORPHA:565 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Prominent nasal bridge, Delayed peripheral myelination, Underdeveloped nasal alae, Bulbous nose, ... |
ORPHA:364577 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Short nose, Abnormal optic disc morphology, Optic atrophy |
ORPHA:363417 |
| Xq21 Microdeletion Syndrome |
|
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... |
ORPHA:1435 |
| White-Kernohan Syndrome |
|
Anteverted nares, Depressed nasal bridge, Underdeveloped nasal alae, Dysplastic corpus callosum, ... |
OMIM:619426 |
| Osteoglophonic Dysplasia |
|
Inguinal hernia, Depressed nasal bridge, Anteverted nares, Choanal atresia, Short neck, Cryptorch... |
OMIM:166250 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Sacral dimple, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Short neck, Frontal hir... |
OMIM:617157 |
| Adenylosuccinase Deficiency |
|
Short nose, Anteverted nares |
OMIM:103050 |
| Pfeiffer Syndrome Type 1 |
|
Aqueductal stenosis, Short nose, Depressed nasal bridge |
ORPHA:93258 |
| Aspartylglucosaminuria |
|
Beaking of vertebral bodies, Inguinal hernia, Splenomegaly, Wide nasal bridge, Anterior beaking o... |
ORPHA:93 |
| Marshall Syndrome |
|
Depressed nasal bridge, Anteverted nares, Platyspondyly, Short nose |
OMIM:154780 |
| Stickler Syndrome |
|
Anteverted nares, Depressed nasal bridge, Kyphosis, Depressed nasal ridge, Spinal canal stenosis,... |
ORPHA:828 |
| Menke-Hennekam Syndrome 1 |
|
Narrow nasal bridge, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Underdeveloped na... |
OMIM:618332 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Inguinal hernia, Hypopigmentation of hair, Depressed nasal bridge, Anteverted nares, Cryptorchidi... |
ORPHA:2719 |
| Toluene Embryopathy |
|
Cryptorchidism, Short nose |
ORPHA:1920 |
| Antley-Bixler Syndrome |
|
Short nose, Anteverted nares, Choanal atresia |
ORPHA:83 |
| Frontofacionasal Dysplasia |
|
Underdeveloped nasal alae, Bifid nose, Midline defect of the nose, Cranium bifidum occultum, Abse... |
OMIM:229400 |
| Molybdenum Cofactor Deficiency, Complementation Group B |
|
Neonatal death, Short nose, Peripheral demyelination, Axonal loss |
OMIM:252160 |
| Coffin-Lowry Syndrome |
|
Wide nose, Inguinal hernia, Anteverted nares, Highly arched eyebrow, Kyphosis, Thick nasal septum... |
OMIM:303600 |
| Cornelia De Lange Syndrome |
|
Ventricular septal defect, Choanal atresia, Anteverted nares, Depressed nasal bridge, Short neck,... |
ORPHA:199 |
| Pfeiffer Syndrome Type 3 |
|
Aqueductal stenosis, Short nose, Depressed nasal bridge, Choanal atresia |
ORPHA:93260 |
| Mietens Syndrome |
|
Wide nose, Wide nasal bridge, Short nose |
ORPHA:2557 |
| Faciodigitogenital Syndrome, Autosomal Recessive |
|
Vertebral fusion, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Cryptorchidism, Wido... |
OMIM:227330 |
| Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Depressed nasal bridge, Short neck, Hypoplasia of the odontoid process, Wide anterior fontanel, A... |
OMIM:271665 |
| Microphthalmia With Limb Anomalies |
|
Abnormal eyebrow morphology, Depressed nasal bridge, Venous insufficiency, Cryptorchidism, Hydroc... |
ORPHA:1106 |
| Geleophysic Dysplasia 1 |
|
Anteverted nares, Tricuspid stenosis, Aortic valve stenosis, Mitral stenosis, Short nose |
OMIM:231050 |
| Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Ventricular septal defect, Optic nerve hypoplasia, Broad nasal tip, Short neck, Wide nasal bridge... |
OMIM:620330 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Nail dystrophy, Delayed puberty, Short nose, Convex nasal ridge |
ORPHA:90154 |
| Igg4-Related Thyroid Disease |
|
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... |
ORPHA:64744 |
| Toriello-Lacassie-Droste Syndrome |
|
Aganglionic megacolon, Anteverted nares, Agenesis of corpus callosum, Short nose |
ORPHA:3339 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Depressed nasal bridge, Broad nasal tip, Cryptorchidism, Bulbous nose, Optic atrophy, Low posteri... |
OMIM:309590 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Peripheral axonal neuropathy, Depressed nasal bridge, Cryptorchidism, Sparse hair, Short nose, Co... |
OMIM:300661 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Bicuspid aortic valve, Asplenia, Abnormality of the pulmonary artery, Agenesis of corpus callosum... |
ORPHA:261552 |
| Robinow Syndrome, Autosomal Dominant 1 |
|
Sacral dimple, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Short neck, Cryptorchid... |
OMIM:180700 |
| Phocomelia, Schinzel Type |
|
Short neck, Cryptorchidism, Meningocele, Aplasia/Hypoplasia of the sacrum, Short nose |
ORPHA:2879 |
| Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Short nose |
ORPHA:1129 |
| Occipital Horn Syndrome |
|
Inguinal hernia, Thick hair, Hiatus hernia, Venous insufficiency, Kyphosis, Abnormality of the se... |
ORPHA:198 |
| Cadds |
|
Short nose, Adrenal hypoplasia |
ORPHA:369942 |
| Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Short nose |
OMIM:266810 |
| Igg4-Related Kidney Disease |
|
Pericarditis, Abnormal breast morphology, Lymphadenitis, Abnormality of the anterior pituitary, T... |
ORPHA:449395 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Bicuspid aortic valve, Asplenia, Abnormality of the pulmonary artery, Agenesis of corpus callosum... |
ORPHA:261537 |
| Ayme-Gripp Syndrome |
|
Sparse scalp hair, Pericarditis, Depressed nasal bridge, Wide nasal bridge, Nail dystrophy, Short... |
OMIM:601088 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Decreased serum insulin-like growth factor 1, Decreased circulating cortisol level, Alopecia, Dec... |
ORPHA:293978 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Orthostatic hypotension, Narrow nasal ridge, Pulmonary arteriovenous malformat... |
OMIM:606721 |
| Mowat-Wilson Syndrome |
|
Bicuspid aortic valve, Asplenia, Agenesis of corpus callosum, Iris coloboma, Broad columella, Pul... |
ORPHA:2152 |
| Molybdenum Cofactor Deficiency, Complementation Group A |
|
Short nose, Peripheral demyelination, Axonal loss |
OMIM:252150 |
| Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Short nose, Optic atrophy, Adrenal insufficiency |
OMIM:614863 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Inguinal hernia, Venous insufficiency, Decreased nerve conduction velocity, Ascending tubular aor... |
ORPHA:285 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Alopecia, Convex nasal ridge, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Hypoplasia of... |
OMIM:619321 |
| Autosomal Recessive Faciodigitogenital Syndrome |
|
Dry hair, Hypopigmentation of hair, Anteverted nares, Prominent nasal bridge, Widow's peak, Coars... |
ORPHA:1974 |
| Dend Syndrome |
|
Short nose, Anteverted nares |
ORPHA:79134 |
| Glomuvenous Malformation |
|
Gastrointestinal arteriovenous malformation, Abnormality of the nasal cavity, Arteriovenous malfo... |
ORPHA:83454 |
| Familial Cerebral Cavernous Malformation |
|
Venous malformation, Scoliosis, Neuroma, Cerebral hemorrhage |
ORPHA:221061 |
| Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth |
|
Varicose veins, Venous malformation |
OMIM:613089 |
| C Syndrome |
|
Omphalocele, Sacral dimple, Depressed nasal bridge, Anteverted nares, Abnormal hair pattern, Shor... |
ORPHA:1308 |
| Craniofacial-Deafness-Hand Syndrome |
|
Short nose, Depressed nasal bridge, Narrow naris |
OMIM:122880 |
| Penile Agenesis |
|
Depressed nasal bridge, Ventricular septal defect, Maternal diabetes, Cryptorchidism, Atrial sept... |
ORPHA:49 |
| Orofaciodigital Syndrome Type 4 |
|
Decreased testicular size, Wide nose, Monorchism, Choanal atresia, Depressed nasal ridge, Primary... |
ORPHA:2753 |
| Norrie Disease |
|
Narrow nasal bridge, Diabetes mellitus, Remnants of the hyaloid vascular system, Venous insuffici... |
ORPHA:649 |
| Igg4-Related Ophthalmic Disease |
|
Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve, Orchitis, Abnormalit... |
ORPHA:449563 |
| 1P21.3 Microdeletion Syndrome |
|
Short nose, Broad nasal tip |
ORPHA:293948 |
