14Q24.1Q24.3 Microdeletion Syndrome |
|
Truncus arteriosus, Long philtrum, Ventricular septal defect, Wide nasal bridge, Atrial septal de... |
ORPHA:401935 |
Syndactyly Type 2 |
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Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
Gombo Syndrome |
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Clinodactyly, Radial deviation of finger, Abnormal heart morphology, Microphthalmia, Brachydactyly |
OMIM:233270 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
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Polydactyly, Abnormal cardiac septum morphology, Upper limb phocomelia, Syndactyly, Abnormal hear... |
ORPHA:294975 |
Synpolydactyly 1 |
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Finger syndactyly, Short middle phalanx of the 5th finger, Preaxial foot polydactyly, Clinodactyl... |
OMIM:186000 |
Orofaciodigital Syndrome Xviii |
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Genu valgum, Wide nasal bridge, Short philtrum, Diastema, Accessory oral frenulum, Single transve... |
OMIM:617927 |
Microphthalmia, Syndromic 12 |
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Retrognathia, Anophthalmia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Hypoplast... |
OMIM:615524 |
Conotruncal Heart Malformations |
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Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Broad hallux, Complete a... |
OMIM:217095 |
Polydactyly, Preaxial Ii |
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Preaxial hand polydactyly, Preaxial foot polydactyly, Complete duplication of distal phalanx of t... |
OMIM:174500 |
Microphthalmia With Limb Anomalies |
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Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
Griscelli Syndrome, Type 1 |
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Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... |
OMIM:214450 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
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Underdeveloped nasal alae, Abnormal aortic morphology, Truncus arteriosus, Ventricular septal def... |
ORPHA:2516 |
17Q12 Microduplication Syndrome |
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Finger syndactyly, Toe syndactyly, Atrial septal defect, Tracheoesophageal fistula, Microphthalmi... |
ORPHA:261272 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Underdeveloped nasal alae, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Malar f... |
OMIM:611867 |
Mmep Syndrome |
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Triphalangeal thumb, Mandibular prognathia, Ventricular septal defect, Median cleft lip, Split fo... |
ORPHA:3434 |
17Q21.31 Microduplication Syndrome |
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High palate, Toe syndactyly, Micrognathia, Clinodactyly of the 5th finger, Short philtrum, Short ... |
ORPHA:217340 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
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Underdeveloped nasal alae, Truncus arteriosus, Ventricular septal defect, Short distal phalanx of... |
OMIM:601355 |
Meckel Syndrome, Type 8 |
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Polydactyly, Cleft upper lip, Anophthalmia, Depressed nasal ridge, Pericardial effusion, Short no... |
OMIM:613885 |
14Q11.2 Microdeletion Syndrome |
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Patent ductus arteriosus, High palate, Long philtrum, Deep philtrum, Ventricular septal defect, T... |
ORPHA:261120 |
Genitopalatocardiac Syndrome |
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Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao... |
OMIM:231060 |
Adams-Oliver Syndrome 6 |
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Hepatic fibrosis, Foot oligodactyly, Truncus arteriosus, Ventricular septal defect, Syndactyly, B... |
OMIM:616589 |
Rhombencephalosynapsis |
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Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
Tietz Syndrome |
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Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... |
ORPHA:42665 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
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Retrognathia, Patent ductus arteriosus, High palate, Ventricular septal defect, Hypoplastic right... |
OMIM:618142 |
Albinism, Oculocutaneous, Type Iii |
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Albinism, Red hair, Partial albinism |
OMIM:203290 |
Polydactyly, Postaxial, Type A1 |
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Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
Polydactyly, Preaxial Iv |
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1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
Feingold Syndrome 1 |
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2-3 toe syndactyly, Asplenia, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Depre... |
OMIM:164280 |
Griscelli Syndrome, Type 3 |
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Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft |
OMIM:609227 |
Intellectual Developmental Disorder, X-Linked 91 |
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Short 5th finger, Small hand, High palate, Clinodactyly, Short nose, Cubitus valgus, Short foot, ... |
OMIM:300577 |
Pierre Robin Sequence With Facial And Digital Anomalies |
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Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Microg... |
OMIM:311895 |
Microgastria-Limb Reduction Defect Syndrome |
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Truncus arteriosus, Elbow dislocation, Phocomelia, Hepatomegaly, Ectrodactyly, Absent hand, Anoph... |
ORPHA:2538 |
Anencephaly 2 |
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Anophthalmia, Cleft maxillary alveolar ridge, Bifid nose, Median cleft lip, Median cleft palate |
OMIM:619452 |
Frontonasal Dysplasia 1 |
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Joint contracture of the hand, Hypoplastic frontal sinuses, Wide nasal bridge, Pectoral muscle hy... |
OMIM:136760 |
Methimazole Embryofetopathy |
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Abnormal aortic morphology, Ventricular septal defect, Esophageal atresia, Coarctation of aorta, ... |
ORPHA:1923 |
Mycophenolate Mofetil Embryopathy |
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Ventricular septal defect, Foot polydactyly, Micrognathia, Bifid nose, Coarctation of aorta, Trac... |
ORPHA:268249 |
Acrocardiofacial Syndrome |
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Camptodactyly of finger, Cleft upper lip, Hallux valgus, Finger syndactyly, Truncus arteriosus, F... |
ORPHA:2008 |
Cleft-Limb-Heart Malformation Syndrome |
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Syndactyly, Truncus arteriosus |
OMIM:215850 |
Santos Syndrome |
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Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
Orofaciodigital Syndrome Type 10 |
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Short tibia, Cleft soft palate, Micrognathia, Metatarsal synostosis, Hypoplasia of proximal radiu... |
ORPHA:2756 |
Temtamy Syndrome |
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Short toe, Genu varum, Convex nasal ridge, Thick lower lip vermilion, Micrognathia, Aortic aneury... |
ORPHA:1777 |
Microphthalmia, Syndromic 9 |
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Patent ductus arteriosus, Anophthalmia, Truncus arteriosus, Ventricular septal defect, Wide nasal... |
OMIM:601186 |
Lissencephaly Syndrome, Norman-Roberts Type |
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Wide nose, Patent foramen ovale, Wide nasal bridge, Microretrognathia, Atrial septal defect, Addu... |
ORPHA:89844 |
Hydrolethalus |
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Retrognathia, Anophthalmia, Gingival cleft, Micrognathia, Bifid uvula, Submucous cleft hard palat... |
ORPHA:2189 |
Adams-Oliver Syndrome 4 |
|
Aplasia of the distal phalanges of the toes, Short toe, Patent ductus arteriosus, Ventricular sep... |
OMIM:615297 |
Congenital Contractural Arachnodactyly |
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Camptodactyly of finger, High palate, Mitral valve prolapse, Aortic aneurysm, Intestinal malrotat... |
ORPHA:115 |
Oculofaciocardiodental Syndrome |
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2-3 toe syndactyly, Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pul... |
ORPHA:2712 |
Polydactyly, Preaxial I |
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Radial deviation of thumb terminal phalanx, Preaxial hand polydactyly, Partial duplication of thu... |
OMIM:174400 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
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Patent ductus arteriosus, Abnormal hand morphology, Short 5th metacarpal, Bicuspid aortic valve, ... |
ORPHA:228190 |
Pierre Robin Syndrome And Oligodactyly |
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Hand oligodactyly, Micrognathia, Pierre-Robin sequence, Cleft palate |
OMIM:172880 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
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Atrioventricular canal defect, Esophageal atresia, Transposition of the great arteries, Hand poly... |
OMIM:314390 |
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome |
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Convex nasal ridge, Abnormal mitral valve morphology, Micrognathia, Abnormal palate morphology, T... |
ORPHA:1277 |
Double Outlet Right Ventricle |
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Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... |
ORPHA:3426 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Micrognathia, Short nose, Thin upper lip vermilion, Anteverted nares, Cleft palate |
ORPHA:2015 |
Cerebrooculofacioskeletal Syndrome 3 |
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Micrognathia, Microphthalmia, Rocker bottom foot, Cleft palate, Talipes equinovarus |
OMIM:616570 |
Glucocorticoid Deficiency 3 |
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Hyperpigmentation of the skin, Recurrent hypoglycemia |
OMIM:609197 |
Syndactyly, Type Iv |
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Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
Skraban-Deardorff Syndrome |
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Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla... |
OMIM:617616 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
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Patent ductus arteriosus, Short toe, Short 5th metacarpal, Bicuspid aortic valve, Short finger, C... |
OMIM:604381 |
Fanconi Anemia, Complementation Group B |
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Patent ductus arteriosus, Absent thumb, Ventricular septal defect, Esophageal atresia, Bilateral ... |
OMIM:300514 |
Orofaciodigital Syndrome Xi |
|
Gastroesophageal reflux, Wide nasal bridge, Hypoplasia of the odontoid process, Cleft palate, Bul... |
OMIM:612913 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Ventricular septal defect, Vascular ring, Atrial septal defect, Postaxial... |
OMIM:603387 |
Phosphoribosylaminoimidazole Carboxylase Deficiency |
|
Choanal stenosis, Esophageal atresia, Missing ribs, Clinodactyly of the 5th finger, Short nose, T... |
OMIM:619859 |
Hallux Varus And Preaxial Polysyndactyly |
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Broad hallux, Syndactyly, Preaxial hand polydactyly, Hallux varus |
OMIM:234280 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft |
OMIM:611638 |
Temtamy Preaxial Brachydactyly Syndrome |
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Abnormally large globe, Micrognathia, Microdontia, Tibial deviation of the 2nd toe, Short hallux,... |
ORPHA:363417 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Patent ductus arteriosus, Anophthalmia, Ventricular septal defect, Esophageal a... |
ORPHA:77298 |
Heterotaxy, Visceral, 4, Autosomal |
|
Midline liver, Atrioventricular canal defect, Ventricular septal defect, Common atrium, Transposi... |
OMIM:613751 |
Pierre Robin Syndrome |
|
Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis |
OMIM:261800 |
Congenital Radioulnar Synostosis |
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Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
Ivic Syndrome |
|
Absent thumb, Short femur, Thrombocytopenia, Short 1st metacarpal, Carpal synostosis, Carpal bone... |
OMIM:147750 |
Xk Aprosencephaly Syndrome |
|
Abnormal nostril morphology, Ventricular septal defect, Abnormal morphology of the radius, Anal a... |
ORPHA:3469 |
Braddock-Carey Syndrome 2 |
|
Retrognathia, Pierre-Robin sequence, Wide mouth, Clinodactyly, Bulbous nose, Microphthalmia, Clef... |
OMIM:619981 |
Congenital Alveolar Capillary Dysplasia |
|
Absent gallbladder, Asplenia, Patent ductus arteriosus, Atrioventricular canal defect, Pulmonary ... |
ORPHA:210122 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
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Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Patent ductus arterio... |
ORPHA:2547 |
Jawad Syndrome |
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Absent fourth finger distal interphalangeal crease, Retrognathia, Prominent nose, Hallux valgus, ... |
OMIM:251255 |
Acces Syndrome |
|
Retrognathia, Hip dysplasia, Hip dislocation, Clinodactyly of the 5th finger, Tracheoesophageal f... |
OMIM:619959 |
Czeizel-Losonci Syndrome |
|
High palate, 2-3 finger syndactyly, Micrognathia, Clubbing of toes, Tracheoesophageal fistula, Sp... |
ORPHA:2437 |
Lymphedema, Cardiac Septal Defects, And Characteristic Facies |
|
Patent ductus arteriosus, Ventricular septal defect, Vascular ring, Atrial septal defect, Thin up... |
OMIM:601927 |
Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Prominent nose, Long philtrum, Abnormal cardiac septum morphology, Wide nasal bridge... |
OMIM:301022 |
Delpire-Mcneill Syndrome |
|
Tracheoesophageal fistula, Hip dislocation, Ventricular septal defect, Dysphagia |
OMIM:619083 |
3P25.3 Microdeletion Syndrome |
|
Tapered finger, 2-3 finger syndactyly, Micrognathia, Broad hallux, Overlapping toe, Cleft palate,... |
ORPHA:435638 |
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly |
|
Subvalvular aortic stenosis, 2-3 toe syndactyly, 2-3 finger syndactyly, Coarctation of aorta, Bro... |
OMIM:217085 |
Velocardiofacial Syndrome |
|
Retrognathia, Underdeveloped nasal alae, Pierre-Robin sequence, Ventricular septal defect, Interr... |
OMIM:192430 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Anophthalmia Plus Syndrome |
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Non-midline cleft lip, Anophthalmia, Abnormal nasal morphology, Choanal atresia, Deviation of fin... |
ORPHA:1104 |
Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
Brachydactyly-Preaxial Hallux Varus Syndrome |
|
Radial club hand, Preaxial hand polydactyly, Short metacarpal, Wide nasal bridge, Micrognathia, A... |
ORPHA:1278 |
Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Tracheal stenosis, Tracheoesophageal fistula, Abnormality of ... |
ORPHA:93941 |
Stankiewicz-Isidor Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Absent thumb, Patent ductus arteriosus, Prominent nose, Truncus... |
OMIM:617516 |
Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Atrioventricular canal defect, Genu valgum, Overhanging nasal tip, Short philtrum,... |
OMIM:619142 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
You-Hoover-Fong Syndrome |
|
Vascular ring, Clinodactyly, Accessory oral frenulum, Coarctation of aorta, Double aortic arch, B... |
OMIM:616954 |
Acro-Renal-Mandibular Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Hypoplasia of the radius, Micro... |
ORPHA:958 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal cardiac septum morphology, Hip dysplasia, Abnormal metacarpal morphology, Clinodactyly o... |
ORPHA:2370 |
Dilution, Pigmentary |
|
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair |
OMIM:126070 |
Trisomy 1Q |
|
Camptodactyly of finger, Patent ductus arteriosus, Wide nose, Preaxial hand polydactyly, Anophtha... |
ORPHA:261344 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Cleft ala nasi, Congenital hip dislocation, Microphthalmia, Cleft palate |
OMIM:164180 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... |
OMIM:619947 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Micrognathia, Cleft palate, Narrow greater sciatic notch, Short ribs, Esophageal div... |
OMIM:617925 |
Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Depressed nasal bridge, Narrow mouth, Malar flatte... |
OMIM:615984 |
Phocomelia, Schinzel Type |
|
Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hypoplasia of the radius, Radial... |
ORPHA:2879 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Camptodactyly of finger, Coxa valga, Truncus arteriosus, Toe syndactyly, Smooth philtrum, Cleft p... |
ORPHA:261330 |
Maxillonasal Dysplasia |
|
Abnormal nostril morphology, Mandibular prognathia, Depressed nasal ridge, Microdontia, Short nos... |
ORPHA:1248 |
Non-Distal Trisomy 10Q |
|
Aplasia/Hypoplasia affecting the eye, Convex nasal ridge, High palate, Micrognathia, Short nose, ... |
ORPHA:1695 |
Griscelli Syndrome Type 3 |
|
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism |
ORPHA:79478 |
Cerebrooculonasal Syndrome |
|
Abnormal nostril morphology, High palate, Anophthalmia, Long philtrum, Widely spaced teeth, Micro... |
ORPHA:66625 |
X-Linked Intellectual Disability, Siderius Type |
|
Cleft upper lip, Preaxial hand polydactyly, Broad nasal tip, Large hands, Orofacial cleft |
ORPHA:85287 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Bifid tongue, Hypoplastic facial bones, Cleft palate, Narrow greater sciatic notch, ... |
OMIM:616300 |
Trisomy 13 |
|
Patent ductus arteriosus, Anophthalmia, Long philtrum, Ventricular septal defect, Aplasia/Hypopla... |
ORPHA:3378 |
Emanuel Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Broad jaw, High palate, Delayed eruption of pr... |
OMIM:609029 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Retrognathia, Mesomelic leg shortening, Micrognathia, Bowing of the legs... |
OMIM:249710 |
Orofaciodigital Syndrome Xvii |
|
Retrognathia, Polydactyly, Prominent nose, Short middle phalanx of the 2nd finger, Clinodactyly, ... |
OMIM:617926 |
Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Elbow dislocation, Postaxial hand pol... |
ORPHA:1106 |
Acromicric Dysplasia |
|
Fifth metacarpal with ulnar notch, Short metacarpal, Small hand, Thick lower lip vermilion, Long ... |
ORPHA:969 |
Robin Sequence-Oligodactyly Syndrome |
|
Micrognathia, Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, ... |
ORPHA:3104 |
2Q24 Microdeletion Syndrome |
|
Camptodactyly of finger, Hand clenching, Bullet-shaped distal phalanx of the hallux, Toe syndacty... |
ORPHA:1617 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Preaxial hand polydactyly, Preaxial foot polydactyly, Bifid distal phalanx of toe, Broad toe, 1-2... |
OMIM:186350 |
Rhizomelic Syndrome, Urbach Type |
|
Triphalangeal thumb, Preaxial hand polydactyly, High palate, Abnormality of the elbow, Rhizomelia... |
ORPHA:3098 |
Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Wide nasal bridge, Micrognathia, Optic nerve hypoplasia, Intestinal ... |
OMIM:243605 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Asplenia, Atrioventricular canal defect, Micrognathia, Pulmonary artery dilatation, Pulmonary art... |
OMIM:265380 |
Heterotaxy, Visceral, 12, Autosomal |
|
Abdominal situs ambiguus, Double outlet right ventricle, Patent foramen ovale, Ventricular septal... |
OMIM:619702 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Double aortic arch, Tetralogy of Fallot, Pulmonary artery atresia... |
OMIM:618780 |
Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Choanal atresia, Vascular dilata... |
OMIM:607323 |
Fanconi Anemia |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Toe syndactyly, Aplasia/H... |
ORPHA:84 |
Fanconi Anemia, Complementation Group L |
|
Hypoplastic sacrum, Absent thumb, Anemia, Wide nasal bridge, Esophageal atresia, Micrognathia, De... |
OMIM:614083 |
Chondrodysplasia With Joint Dislocations, Gpapp Type |
|
Short toe, Genu valgum, Capitate-hamate fusion, Short metacarpal, Short long bone, Hip dysplasia,... |
OMIM:614078 |
Catel-Manzke Syndrome |
|
Metatarsus valgus, Camptodactyly of finger, Ventricular septal defect, Micrognathia, Oral synechi... |
ORPHA:1388 |
Treacher-Collins Syndrome |
|
Hypoplasia of the thymus, Wide nasal bridge, Micrognathia, Tooth agenesis, Cleft palate, Glossopt... |
ORPHA:861 |
Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Mandibular prognathia, Split foot, Microphthalmia, Widely-spaced maxillary centr... |
OMIM:601349 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Broad nasal tip, Bifid nasal... |
OMIM:300484 |
Hidrotic Ectodermal Dysplasia |
|
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... |
ORPHA:189 |
Mohr Syndrome |
|
Bifid tongue, Micrognathia, Partial duplication of the phalanges of the hallux, Median cleft lip,... |
OMIM:252100 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
2-3 toe syndactyly, Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Wide nas... |
ORPHA:508498 |
Gracile Bone Dysplasia |
|
Asplenia, Slender long bone, Ankyloglossia, Flared metaphysis, Microphthalmia, Brachydactyly, Hyp... |
OMIM:602361 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Convex nasal ridge, Wide nasal bridge, Micrognathia, Flared iliac wing, Duplication ... |
OMIM:180849 |
Emanuel Syndrome |
|
Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Micrognathia, Bifid uvula, Dysphagia... |
ORPHA:96170 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... |
OMIM:613854 |
Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Hypoplastic frontal sinuses, Abnormal cardiac septum morphology, Microgn... |
ORPHA:90652 |
Heterotaxy, Visceral, 7, Autosomal |
|
Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Common atrium,... |
OMIM:616749 |
Van Esch-O'Driscoll Syndrome |
|
Retrognathia, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Esophageal atresia,... |
OMIM:301030 |
Lethal Osteosclerotic Bone Dysplasia |
|
Retrognathia, Mandibular aplasia, Depressed nasal ridge, Micrognathia, Gingival fibromatosis, Med... |
ORPHA:1832 |
Axial Mesodermal Dysplasia Spectrum |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1834 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Micrognathia, Atrial septal defect, Broad thumb, Microphth... |
OMIM:614526 |
Congenital Tracheomalacia |
|
Patent ductus arteriosus, Gastroesophageal reflux, Tracheobronchomalacia, Cardiomegaly, Anomalous... |
ORPHA:95430 |
Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Micrognathia, Mesoaxial polydact... |
ORPHA:2754 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
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Rhizomelia, Ventricular septal defect, Wide nasal bridge, Micrognathia, Short philtrum, Downturne... |
ORPHA:93267 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Wide nasal bridge, Micrognathia, Bifid uvula, Abnormal oral frenulum morpholo... |
ORPHA:404440 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
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Genu varum, Mandibular prognathia, Convex nasal ridge, Arteriovenous malformation, Abnormal aorti... |
ORPHA:1110 |
Split-Foot Deformity With Mandibulofacial Dysostosis |
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Toe syndactyly, Micrognathia, Split foot, Split hand, Malar flattening, Cleft palate |
OMIM:183700 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
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Anophthalmia, Short philtrum, Everted lower lip vermilion, Abnormal spaced incisors, Broad nasal ... |
ORPHA:411986 |
Multiple Synostoses Syndrome 3 |
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Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
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Craniofacial hyperostosis, Clinodactyly of the 5th finger, Tracheoesophageal fistula, Abnormal pa... |
ORPHA:3068 |
Femoral-Facial Syndrome |
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Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Toe syndactyly, Aplasia/hypo... |
OMIM:134780 |
Opitz Gbbb Syndrome |
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Ectopic anus, Wide nasal bridge, Micrognathia, Dysphagia, Cleft palate, Aortic root aneurysm, Pat... |
ORPHA:2745 |
Vacterl/Vater Association |
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Anorectal anomaly, Non-midline cleft lip, Preaxial hand polydactyly, Abnormality of the pancreas,... |
ORPHA:887 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Truncus Arteriosus |
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Hypoplasia of the thymus, Truncus arteriosus, Aplasia/hypoplasia involving bones of the extremiti... |
ORPHA:3384 |
Ring Chromosome 8 Syndrome |
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Deviation of finger, Abnormal palate morphology, Anteverted nares, Short nose |
ORPHA:1450 |
Arthrogryposis, Distal, Type 1C |
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Camptodactyly of finger, Wrist flexion contracture, Retrognathia, Hip contracture, High palate, E... |
OMIM:619110 |
Pierpont Syndrome |
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Wide nose, Short toe, Short foot, Prominent median palatal raphe, Widely spaced teeth, Short fing... |
OMIM:602342 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
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Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam... |
OMIM:612474 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
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Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
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Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Schisis Association |
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Anal atresia, Tracheoesophageal fistula, Micromelia, Cleft palate, Unilateral cleft lip |
ORPHA:63862 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
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Preaxial hand polydactyly, Long philtrum, Pear-shaped nose, Thin upper lip vermilion, Interphalan... |
OMIM:606242 |
Fibular Hemimelia |
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Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Limb undergrow... |
ORPHA:93323 |
Non-Distal Trisomy 13Q |
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Aplasia/Hypoplasia affecting the eye, High palate, Long philtrum, Micrognathia, Short nose, Evert... |
ORPHA:1702 |
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies |
|
Overlapping toe, Dysphagia, Cleft palate, Patent foramen ovale, Overhanging nasal tip, Ventricula... |
OMIM:618494 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
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Wide nasal bridge, Overlapping toe, Smooth philtrum, Cutaneous syndactyly, Double outlet right ve... |
OMIM:618316 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
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Retrognathia, Wide nose, Esophageal atresia, Submucous cleft hard palate, Tracheoesophageal fistu... |
OMIM:619227 |
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies |
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Ventricular septal defect, Wide mouth, Clinodactyly of the 5th finger, Short nose, Delayed erupti... |
OMIM:618506 |
Facial Clefting, Oblique, 1 |
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Cleft palate, Deep palmar crease, Cleft upper lip, Microphthalmia |
OMIM:600251 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
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Asplenia, Hepatic fibrosis, Truncus arteriosus, Malformation of the hepatic ductal plate, Femoral... |
OMIM:615415 |
Ciliary Dyskinesia, Primary, 40 |
|
Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri... |
OMIM:618300 |
Fanconi Anemia, Complementation Group D2 |
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Patent ductus arteriosus, Aplasia of the 1st metacarpal, Absent thumb, Preaxial hand polydactyly,... |
OMIM:227646 |
Fryns Microphthalmia Syndrome |
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Microphthalmia, Anophthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
Edinburgh Malformation Syndrome |
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Aplasia/Hypoplasia affecting the eye, Micrognathia, Ulnar deviation of finger, Short nose, Downtu... |
ORPHA:1895 |
Esophageal Atresia |
|
Gastroesophageal reflux, Morphological abnormality of the gastrointestinal tract, Anorectal anoma... |
ORPHA:1199 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia, Hepatomegaly, Median cleft palate |
ORPHA:2432 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:607624 |
Fryns Syndrome |
|
Non-midline cleft lip, Ectopic anus, Abnormal cardiac septum morphology, Wide nasal bridge, Micro... |
ORPHA:2059 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Short ribs, Radial bowing, Micrognathia, Missing ribs, Ulnar bowing, Micromel... |
OMIM:617866 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
|
Patent ductus arteriosus, Anemia, High palate, Megaloblastic anemia, Glossitis, Pancytopenia, Sto... |
OMIM:277380 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
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Bifid tongue, Cleft palate, Talipes equinovarus, Short ribs, Absent tibia, Hypoplasia of the ulna... |
OMIM:613091 |
Burn-Mckeown Syndrome |
|
Wide nasal bridge, Abnormal cardiac septum morphology, Short nose, Bilateral choanal atresia, Abn... |
ORPHA:1200 |
Diamond-Blackfan Anemia 6 |
|
Triphalangeal thumb, Retrognathia, Patent ductus arteriosus, Cleft upper lip, Ventricular hypertr... |
OMIM:612561 |
Thakker-Donnai Syndrome |
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Ventricular septal defect, Anal atresia, Tracheoesophageal fistula, Downturned corners of mouth, ... |
ORPHA:1780 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, Mandibular prognathia, Con... |
ORPHA:1540 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Atrioventricular canal defect, Tapered finger, Wide nasal bridge, Micrognathia, Overlapping toe, ... |
OMIM:613792 |
Charlie M Syndrome |
|
Triphalangeal thumb, Non-midline cleft lip, Finger syndactyly, Wide nasal bridge, Micrognathia, A... |
ORPHA:1406 |
Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Abnormal nasopharynx morphology, Anophthalmia, Prominent median palatal raphe, T... |
OMIM:147250 |
Maxillonasal Dysplasia, Binder Type |
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Dental malocclusion, Short nose, Short columella, Depressed nasal bridge, Short distal phalanx of... |
OMIM:155050 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
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Ventricular septal defect, Short long bone, Short ribs, Femoral bowing, Syndactyly, Depressed nas... |
OMIM:615503 |
Craniofacial-Deafness-Hand Syndrome |
|
Camptodactyly of finger, Aplasia/Hypoplasia involving the nose, Depressed nasal ridge, Ulnar devi... |
ORPHA:1529 |
Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Wide nasal bridge, Dilation of Vi... |
OMIM:603671 |
Odontochondrodysplasia |
|
Retrognathia, Dentinogenesis imperfecta, Patent ductus arteriosus, Coxa valga, Abnormal metaphysi... |
ORPHA:166272 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Hypoplastic iliac wing, Short foot, Abnormality of the calcaneus, Rhizomelia, Wide mouth, Microgn... |
ORPHA:163966 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Ventricular septal defect, Syndactyly, Depressed nasal bridge, Microphthalmia, Smoot... |
OMIM:602501 |
Ermine Phenotype |
|
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo |
OMIM:227010 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, Atrial septal defect, Ove... |
OMIM:617478 |
Trisomy 12P |
|
Aplasia/Hypoplasia affecting the eye, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Microgna... |
ORPHA:1699 |
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb |
|
Gastroesophageal reflux, High palate, Pierre-Robin sequence, Wide nasal bridge, Micrognathia, Cli... |
OMIM:613604 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
Hamel Cerebro-Palato-Cardiac Syndrome |
|
Wide nasal bridge, Micrognathia, Atrial septal defect, Narrow mouth, Arachnodactyly, Malar flatte... |
ORPHA:93946 |
Cerebrooculonasal Syndrome |
|
Narrow palate, Anophthalmia, High palate, Long philtrum, Proboscis, Optic nerve hypoplasia, Short... |
OMIM:605627 |
Teebi Hypertelorism Syndrome 2 |
|
High palate, Delayed eruption of teeth, Microdontia, Clinodactyly of the 5th finger, Short nose, ... |
OMIM:619736 |
Mosaic Trisomy 14 |
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Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, High palate, Ectopic anus, Wide mo... |
ORPHA:1703 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Congenital Hypothyroidism |
|
Abnormal pericardium morphology, Prolonged neonatal jaundice, Depressed nasal ridge, Macroglossia... |
ORPHA:442 |
Mosaic Trisomy 1 |
|
Camptodactyly of finger, Wide nasal bridge, 2-3 finger syndactyly, Toe syndactyly, Elbow flexion ... |
ORPHA:1692 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Long philtrum, Wide nasal bridge, Micrognathia, Gingival overgrowth, Clinodact... |
OMIM:618529 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Retrognathia, Narrow mouth, High palate, Microphthalmia |
ORPHA:2528 |
Pfeiffer Syndrome |
|
Short middle phalanx of toe, Mandibular prognathia, High palate, Finger syndactyly, Humeroradial ... |
OMIM:101600 |
Moebius Syndrome |
|
Short phalanx of finger, Hand clenching, Abnormal nasopharynx morphology, High palate, Aplasia/Hy... |
OMIM:157900 |
Clark-Baraitser Syndrome |
|
High palate, Long philtrum, Wide mouth, Clinodactyly, Short philtrum, Short nose, Thin upper lip ... |
OMIM:617752 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Aganglionic megacolon, Polysyndactyly of hallux, Ventricular septal de... |
OMIM:235750 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Coxa valga, Abnormality of the elbow, High palate, Long philtrum, Micrognathia, Flat acetabular r... |
ORPHA:163649 |
Fetal Trimethadione Syndrome |
|
High palate, Ventricular septal defect, Micrognathia, Atrial septal defect, Short nose, Depressed... |
ORPHA:1913 |
Congenital Tracheal Stenosis |
|
Anomalous origin of left pulmonary artery from ascending aorta, Morphological abnormality of the ... |
ORPHA:141127 |
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Micrognathia, Microdontia, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Atrial se... |
OMIM:619356 |
Short Stature-Wormian Bones-Dextrocardia Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Abnormality of the philtrum, High palate, Wide... |
ORPHA:2863 |
Scimitar Syndrome |
|
Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep... |
ORPHA:185 |
Charge Syndrome |
|
Micrognathia, Secundum atrial septal defect, Dysphagia, Bilateral talipes equinovarus, Cleft pala... |
OMIM:214800 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies |
|
Prominent nose, Small hand, Micrognathia, Clinodactyly of the 5th finger, Long nasal bridge, Over... |
OMIM:617755 |
Acromegaloid Facial Appearance Syndrome |
|
Tapered finger, Short 5th metacarpal, Deep philtrum, Micrognathia, Bulbous nose, Large hands, Thi... |
OMIM:102150 |
Distal Trisomy 18Q |
|
Camptodactyly of finger, High palate, Micrognathia, Abnormality of dental morphology, Clinodactyl... |
ORPHA:1716 |
Infantile Myofibromatosis |
|
Neoplasm of the pancreas, Gingival fibromatosis, Tracheoesophageal fistula, Abnormal intestine mo... |
ORPHA:2591 |
Pierpont Syndrome |
|
Short toe, Widely spaced teeth, Short finger, Everted lower lip vermilion, Thin upper lip vermili... |
ORPHA:487825 |
Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Wide nasal bridge, Micrognathia, Median cleft lip, Depressed nasal tip... |
OMIM:612651 |
Vacterl With Hydrocephalus |
|
Retrognathia, Anophthalmia, Absence of the sacrum, Hypoplasia of the radius, Micrognathia, Esopha... |
ORPHA:3412 |
Chromosome 1P36 Deletion Syndrome, Proximal |
|
Patent ductus arteriosus, Patent foramen ovale, High palate, Ventricular septal defect, Coronary ... |
OMIM:619343 |
Pallister-Hall-Like Syndrome |
|
Short ribs, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial foot polydactyly, Median cle... |
OMIM:241800 |
Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... |
OMIM:311300 |
Seckel Syndrome 2 |
|
Prominent nose, Micrognathia, Microdontia, Clinodactyly of the 5th finger, Microglossia, Micropht... |
OMIM:606744 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Long philtrum, Wide nasal bridge, Micrognathia, Thin upper lip vermilion, Downturned corners of m... |
OMIM:615761 |
Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Underdeveloped nasal alae, Aplasia/Hypoplasia affecting the eye, Wide na... |
ORPHA:1794 |
Sweeney-Cox Syndrome |
|
Asplenia, Wide nasal bridge, Micrognathia, 2-4 finger syndactyly, Bilateral talipes equinovarus, ... |
OMIM:617746 |
Stevenson-Carey Syndrome |
|
Underdeveloped nasal alae, Gastroesophageal reflux, Pierre-Robin sequence, Joint contracture of t... |
OMIM:611961 |
Cofs Syndrome |
|
Camptodactyly of finger, Wide nasal bridge, Abnormal nasal morphology, Micrognathia, Everted lowe... |
ORPHA:1466 |
Microphthalmia With Brain And Digit Anomalies |
|
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... |
ORPHA:139471 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-3 toe cutaneous synda... |
OMIM:300166 |
Periventricular Nodular Heterotopia 7 |
|
1-4 toe syndactyly, 2-3 toe syndactyly, Pierre-Robin sequence, Ventricular septal defect, 4-5 fin... |
OMIM:617201 |
Sandestig-Stefanova Syndrome |
|
Retrognathia, Convex nasal ridge, High palate, Wide nasal bridge, Perimembranous ventricular sept... |
OMIM:618804 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... |
OMIM:614779 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Wide nose, Genu valgum, Mandibular prognathia, Coxa vara, Short metacarpal, Rhizomelia, Depressed... |
ORPHA:2831 |
C Syndrome |
|
Wide nasal bridge, Toe syndactyly, Micrognathia, Hip dislocation, Dislocated radial head, Radial ... |
OMIM:211750 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Long philtrum, Microretrognathia, Short nose, Abnormal palate morphology, Postaxial hand polydactyly |
ORPHA:1389 |
Desbuquois Dysplasia 1 |
|
Broad first metatarsal, Advanced ossification of carpal bones, Coxa valga, Proximal fibular overg... |
OMIM:251450 |
Chondrodysplasia, Blomstrand Type |
|
Advanced ossification of carpal bones, Short ribs, Micrognathia, Flared metaphysis, Depressed nas... |
OMIM:215045 |
Carpenter Syndrome 1 |
|
Coxa valga, Toe syndactyly, Micrognathia, Flared iliac wing, Camptodactyly, Metatarsus adductus, ... |
OMIM:201000 |
Holzgreve Syndrome |
|
Hypoplastic left heart, Cleft palate, Cleft upper lip, Hand polydactyly |
OMIM:236110 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Fetal Minoxidil Syndrome |
|
Micrognathia, Depressed nasal bridge, Clinodactyly of the 5th finger, Ventricular septal defect |
ORPHA:1918 |
Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Underdeveloped nasal alae, Aplasia/Hypoplasia of the thumb, Preaxial hand po... |
ORPHA:2378 |
Trisomy 4P |
|
Camptodactyly of finger, Preaxial hand polydactyly, Radial club hand, Abnormal palate morphology,... |
ORPHA:1738 |
Orofaciodigital Syndrome X |
|
Retrognathia, Preaxial hand polydactyly, Coalescence of tarsal bones, Hand oligodactyly, Depresse... |
OMIM:165590 |
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia |
|
Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner... |
ORPHA:94066 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Abnormal oral cavity morphology, Depressed nasal ridge, Short nose, Narrow mouth, Anteverted nares |
ORPHA:1355 |
Acrocephalopolydactyly |
|
Depressed nasal ridge, Short long bone, Hepatosplenomegaly, Short nose, Limb undergrowth, Brachyd... |
ORPHA:221054 |
22Q11.2 Deletion Syndrome |
|
Hypoplasia of the thymus, Truncus arteriosus, Wide nasal bridge, Micrognathia, Retinal arteriolar... |
ORPHA:567 |
Uncombable Hair Syndrome |
|
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology |
ORPHA:1410 |
Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Mic... |
OMIM:258860 |
Combined Oxidative Phosphorylation Deficiency 25 |
|
Vascular dilatation, Long philtrum, Wide nasal bridge, Short nose, Depressed nasal bridge, Anteve... |
OMIM:616430 |
Chronic Granulomatous Disease |
|
Gingivitis, Malabsorption, Liver abscess, Pyloric stenosis, Abnormality of neutrophils, Tracheoes... |
ORPHA:379 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Temtamy Syndrome |
|
Convex nasal ridge, Long philtrum, Micrognathia, Aortic aneurysm, Hip dislocation, Short 2nd toe,... |
OMIM:218340 |
Johnson Neuroectodermal Syndrome |
|
Retrognathia, Patent ductus arteriosus, Choanal stenosis, Ventricular septal defect, Anosmia, Car... |
OMIM:147770 |
8Q24.3 Microdeletion Syndrome |
|
Atrioventricular canal defect, Short 5th finger, Truncus arteriosus, Cleft maxillary alveolar rid... |
ORPHA:508488 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
2-3 toe syndactyly, Tapered finger, Wide nasal bridge, Micrognathia, Dysphagia, Scapular winging,... |
OMIM:617061 |
Hartsfield Syndrome |
|
Non-midline cleft lip, Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Microphthalmia, ... |
ORPHA:2117 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Charge Syndrome |
|
Aortic arch aneurysm, Abnormal cardiac septum morphology, Delayed eruption of teeth, Abnormal sof... |
ORPHA:138 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly, Wide nasal bridge, Toe syndactyly, Preaxial foot po... |
ORPHA:380 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia, Abnormality of the dentition |
OMIM:251700 |
Hypoglossia With Situs Inversus |
|
Asplenia, High palate, Micrognathia, Polysplenia, Hypodontia, Microglossia, Narrow mouth, Situs i... |
OMIM:612776 |
Meckel Syndrome |
|
Pancreatic cysts, Asplenia, Preaxial hand polydactyly, Aplasia/Hypoplasia of the tongue, Anophtha... |
ORPHA:564 |
Carpenter Syndrome |
|
Patent ductus arteriosus, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial f... |
ORPHA:65759 |
Kapur-Toriello Syndrome |
|
Camptodactyly of finger, Patent ductus arteriosus, Cleft upper lip, Ventricular septal defect, Jo... |
OMIM:244300 |
16P12.1P12.3 Triplication Syndrome |
|
Retrognathia, 2-3 toe syndactyly, Short 5th finger, Tapered finger, Hallux valgus, High, narrow p... |
ORPHA:485405 |
8P23.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, Atrioventricular canal defect, Abnormal aortic morphology, Tapered fing... |
ORPHA:251071 |
Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Gastroesophageal reflux, Ventricular septal defect, Wide... |
OMIM:616920 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
|
11 pairs of ribs, Short toe, Short 5th metacarpal, High palate, Pierre-Robin sequence, Long philt... |
OMIM:617877 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Perlman Syndrome |
|
Retrognathia, Wide nasal bridge, Micrognathia, Broad alveolar ridges, Abnormal upper lip morpholo... |
ORPHA:2849 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Ventricular hypertrophy, Long philtrum, Atrial septal defect, Short nose, Sandal gap, Tetralogy o... |
OMIM:300887 |
Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Micrognathia, Short femur, Radial deviation of finger, Postaxial hand polydactyly... |
OMIM:277170 |
Ciliary Dyskinesia, Primary, 37 |
|
Bronchiectasis, Chronic rhinitis, Situs inversus totalis, Dextrocardia, Right aortic arch |
OMIM:617577 |
Potocki-Shaffer Syndrome |
|
Underdeveloped nasal alae, Wide nasal bridge, 2-5 finger cutaneous syndactyly, Short philtrum, Sh... |
OMIM:601224 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Patent ductus arteriosus, Asplenia, Double outlet right ventricle, High palate, Unbalanced atriov... |
OMIM:619657 |
Right Atrial Isomerism |
|
Right atrial isomerism, Asplenia, Abdominal situs ambiguus, Ventricular septal defect, Common atr... |
OMIM:208530 |
Bardet-Biedl Syndrome 19 |
|
Patent ductus arteriosus, Ventricular septal defect, Hyposmia, Atrial septal defect, Hepatic stea... |
OMIM:615996 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Wide nose, Widely spaced teeth, Micrognathia, Microdontia, Camptodactyly, Down-sloping shoulders,... |
OMIM:619694 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Abnormality of t... |
OMIM:169400 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Micrognathia, Postaxial foot polydactyly, Postaxial hand polydactyly, ... |
OMIM:614120 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Patent foramen ovale, Mandibular prognathia, High palate, Ventricular septal defect, Wide mouth, ... |
ORPHA:369891 |
Chung-Jansen Syndrome |
|
High palate, Tapered finger, Long philtrum, Hip dysplasia, Micrognathia, Clinodactyly of the 5th ... |
OMIM:617991 |
Otopalatodigital Syndrome Type 1 |
|
Hypoplastic frontal sinuses, Wide nasal bridge, Abnormality of the tarsal bones, Synostosis of ca... |
ORPHA:90650 |
Feingold Syndrome |
|
Patent ductus arteriosus, Hallux valgus, Esophageal atresia, Toe syndactyly, Micrognathia, Annula... |
ORPHA:1305 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Aortic root aneurysm, Narrow maxilla, High palate, Ventricular septal defect, Clinodactyly of the... |
OMIM:617602 |
3C Syndrome |
|
Atrioventricular canal defect, Ectopic anus, Wide nasal bridge, Micrognathia, Cleft palate, Orofa... |
ORPHA:7 |
Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Abnormal cardiac septum morphology, Wide nasal bridg... |
OMIM:200990 |
Oculoauriculovertebral Spectrum With Radial Defects |
|
Triphalangeal thumb, Non-midline cleft lip, Aplasia/Hypoplasia of the thumb, Preaxial hand polyda... |
ORPHA:2549 |
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome |
|
Patent ductus arteriosus, Abnormal aortic morphology, Bifid tongue, Micrognathia, Clinodactyly of... |
ORPHA:2001 |
Rhiny |
|
Thin vermilion border, Anteverted nares, Short nose |
OMIM:180360 |
Congenital Rubella Syndrome |
|
Patent ductus arteriosus, Anemia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Jaun... |
ORPHA:290 |
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome |
|
Camptodactyly of finger, Gastroesophageal reflux, Micrognathia, Short nose, Abnormal palate morph... |
ORPHA:1495 |
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1 |
|
Short toe, Abnormally large globe, Mandibular prognathia, Tapered finger, Cleft upper lip, Wide n... |
OMIM:239300 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Aplasia/Hypoplasia involving the nose, High palate, Tooth agenesis, Microphthalmia, Cleft palate,... |
ORPHA:1135 |
Whistling Face Syndrome, Recessive Form |
|
Underdeveloped nasal alae, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, U... |
OMIM:277720 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Wide nasal bridge, Smooth philtrum, Cleft palate, Short nose, Gastroesophagea... |
OMIM:614701 |
Pseudotrisomy 13 Syndrome |
|
11 pairs of ribs, 2-3 toe syndactyly, Cleft upper lip, Ventricular septal defect, Anal atresia, M... |
OMIM:264480 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Patent ductus arteriosus, Short long bone, Short ribs, Coarse metaphyseal trabecularization, Shor... |
OMIM:618961 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Preaxial hand polydactyly, Ventricular septal defect, Deep philtrum, Esophageal atresia, Microgna... |
OMIM:610536 |
Ring Chromosome 10 Syndrome |
|
Tapered finger, Long philtrum, Wide nasal bridge, Micrognathia, Aganglionic megacolon, Microphtha... |
ORPHA:1438 |
17P13.3 Microduplication Syndrome |
|
Wide nose, High palate, Clinodactyly of the 5th finger, Short nose, Congenital hip dislocation, N... |
ORPHA:217385 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Hypoplastic iliac wing, 11 pairs of ribs, Metaphyseal cupping, Rhizomelia, Depressed nasal ridge,... |
OMIM:300863 |
Woolly Hair |
|
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... |
ORPHA:170 |
Holoprosencephaly |
|
Median cleft lip, Tooth agenesis, Depressed nasal tip, Intestinal atresia, Choanal atresia, Aplas... |
ORPHA:2162 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Irregular dentition, Tapered finger, Wide nasal bridge, Delayed eruption of teeth, Micrognathia, ... |
OMIM:619148 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... |
OMIM:193510 |
Craniosynostosis, Herrmann-Opitz Type |
|
Convex nasal ridge, Finger syndactyly, Micrognathia, Brachydactyly, Short nose, Split hand, Micro... |
ORPHA:2145 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Waardenburg Syndrome, Type 4B |
|
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... |
OMIM:613265 |
Rubinstein-Taybi Syndrome 2 |
|
Short 5th toe, Talon cusp, Dental malocclusion, Retrognathia, Narrow palate, Short first metatars... |
OMIM:613684 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Patent ductus arteriosus, Tapered finger, Ventricular septal defect, Interphalangeal thumb joint ... |
OMIM:613870 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Patent ductus arteriosus, Ventricular septal defect, Hand polydactyly, Atrial septal defect, Ever... |
OMIM:249670 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Patent ductus arteriosus, Pierre-Robin sequence, Abnormal cardiac septum morphology, Micrognathia... |
OMIM:217980 |
Hereditary Mucoepithelial Dysplasia |
|
Tracheoesophageal fistula, Anorectal anomaly, Gingival overgrowth, Furrowed tongue |
ORPHA:1839 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Delayed eruption of teeth, Micrognathia, Abnormal dental enamel morphology, Abnormality of dental... |
OMIM:257850 |
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation |
|
Right aortic arch with mirror image branching |
OMIM:107500 |
Meckel Syndrome, Type 5 |
|
Cleft upper lip, Postaxial foot polydactyly, Bile duct proliferation, Microphthalmia, Postaxial h... |
OMIM:611561 |
Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Long philtrum, Hip dysplasia, Preaxial foot polydacty... |
ORPHA:1988 |
Baraitser-Winter Syndrome 1 |
|
Retrognathia, Patent ductus arteriosus, Cleft upper lip, Long philtrum, Wide mouth, Wide nasal br... |
OMIM:243310 |
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome |
|
Patent ductus arteriosus, Long philtrum, Toe syndactyly, Micrognathia, Radioulnar synostosis, Sho... |
ORPHA:171839 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Camptodactyly of finger, Short toe, Dental malocclusion, Mandibular prognathia, High palate, Hall... |
ORPHA:1327 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Patent ductus arteriosus, Levotransposition of the great arteries, Ventricular septal defect, Abn... |
ORPHA:860 |
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Camptodactyly of finger, Retrognathia, Abnormal metacarpal morphology, Elbow dislocation, Thin ve... |
ORPHA:2631 |
Pentasomy X |
|
Camptodactyly of finger, Patent ductus arteriosus, Small hand, Abnormal cardiac septum morphology... |
ORPHA:11 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Vitamin K Antagonist Embryofetopathy |
|
Aplasia/Hypoplasia affecting the eye, Epiphyseal stippling, Macroglossia, Short nose, Depressed n... |
ORPHA:1914 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Septo-optic dysplasia, Optic nerve hypoplasia, Tracheoesophageal fistula, Ano... |
ORPHA:3157 |
Chromosome 6Q11-Q14 Deletion Syndrome |
|
High palate, Long philtrum, Micrognathia, Short nose, Thin upper lip vermilion, Single transverse... |
OMIM:613544 |
Joubert Syndrome 18 |
|
Retrognathia, Lobulated tongue, Intrahepatic biliary atresia, Ventricular septal defect, Talipes ... |
OMIM:614815 |
Neurooculocardiogenitourinary Syndrome |
|
Patent ductus arteriosus, Patent foramen ovale, Ventricular septal defect, Atrial septal defect, ... |
OMIM:618652 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia of the 1st metacarpal, Aplasia/Hypoplasia of the thumb, Abnormal cardiac septum morpholog... |
ORPHA:1352 |
Oculocutaneous Albinism, Type Viii |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect |
OMIM:619165 |
Acitretin/Etretinate Embryopathy |
|
Atrioventricular canal defect, High palate, Hypoplasia of the thymus, Abnormality of the calcaneu... |
ORPHA:40366 |
Lethal Faciocardiomelic Dysplasia |
|
Short tibia, Patent ductus arteriosus, Radial club hand, Short 5th finger, Hypoplasia of the radi... |
ORPHA:1972 |
Fetal Alcohol Syndrome |
|
Non-midline cleft lip, Micrognathia, Microdontia, Atrial septal defect, Short nose, Thin upper li... |
ORPHA:1915 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Stippling of the epiphyses of the distal phalanges of the hand, Vertebral hypoplasia, Epiphyseal ... |
ORPHA:79345 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Patent ductus arteriosus, 2-3 toe syndactyly, Double outlet right ventricle, High palate, Wide na... |
ORPHA:3304 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Gingival overgrowth, Calvarial oste... |
OMIM:616331 |
Suleiman-El-Hattab Syndrome |
|
Polydactyly, Patent foramen ovale, High palate, Long philtrum, Wide mouth, Ventricular septal def... |
OMIM:618950 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair |
|
Abnormality of the elbow, Deep philtrum, Thick lower lip vermilion, Short nose, Hypertrophic card... |
ORPHA:2701 |
Martinez-Frias Syndrome |
|
Pancreatic hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Extrahepatic biliary duct ... |
OMIM:601346 |
Microcephaly-Capillary Malformation Syndrome |
|
Wide nose, Patent foramen ovale, Ventricular septal defect, Clinodactyly, Atrial septal defect, S... |
OMIM:614261 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Wide nasal ... |
OMIM:617102 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Long philtrum, Deep philtrum, Wide nasal bridge, Microretrognathia, Short nose, Overlapping toe, ... |
OMIM:618571 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Anemia, High palate, Long philtrum, Micrognathia, Short nose |
ORPHA:2598 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Cleft mandible, Prominence of the zygomatic bone, Everted lower lip vermilion, Cleft palate, Apla... |
ORPHA:364577 |
Phaver Syndrome |
|
Camptodactyly of finger, Triphalangeal thumb, Ventricular septal defect, Radioulnar synostosis, U... |
ORPHA:2876 |
Retinitis Pigmentosa 89 |
|
Hepatic fibrosis, Bicuspid aortic valve, Intrahepatic bile duct dilatation, Hepatosplenomegaly, M... |
OMIM:618955 |
Stickler Syndrome Type 1 |
|
Long philtrum, Mitral valve prolapse, Short nose, Hypoplasia of the maxilla, Cleft palate, Abnorm... |
ORPHA:90653 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
Acrodysostosis |
|
Wide nasal bridge, Delayed eruption of teeth, Epiphyseal stippling, Short toe, Abnormal morpholog... |
ORPHA:950 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Atrioventricular canal defect, Bifid tongue, Wide nasal brid... |
ORPHA:2751 |
Stickler Syndrome, Type Ii |
|
Pierre-Robin sequence, Micrognathia, Bifid uvula, Depressed nasal bridge, Anteverted nares, Arach... |
OMIM:604841 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular septal defect, Micrognathi... |
ORPHA:1166 |
Otodental Syndrome |
|
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Pul... |
ORPHA:2791 |
Tracheoesophageal Fistula With Or Without Esophageal Atresia |
|
Tracheoesophageal fistula, Esophageal atresia |
OMIM:189960 |
Greig Cephalopolysyndactyly Syndrome |
|
Preaxial hand polydactyly, Joint contracture of the hand, Wide nasal bridge, Preaxial foot polyda... |
OMIM:175700 |
Fanconi Anemia, Complementation Group S |
|
Thick upper lip vermilion, Dental malocclusion, Anemia, Underdeveloped nasal alae, Narrow palate,... |
OMIM:617883 |
Cleft Palate, Isolated |
|
Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion |
OMIM:119540 |
Vater/Vacterl Association |
|
Triphalangeal thumb, Patent ductus arteriosus, Abnormal nasopharynx morphology, Ventricular septa... |
OMIM:192350 |
Bartsocas-Papas Syndrome 2 |
|
Small hand, 2-5 finger cutaneous syndactyly, Micrognathia, Microphthalmia, Absent distal phalange... |
OMIM:619339 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... |
OMIM:203200 |
Autosomal Dominant Omodysplasia |
|
Rhizomelia, Short 1st metacarpal, Long philtrum, Micrognathia, Elbow dislocation, Short nose, Dep... |
ORPHA:93328 |
Stormorken Syndrome |
|
Asplenia, Anemia, Howell-Jolly bodies, Prominent nose, Short philtrum, Epistaxis, Stroke-like epi... |
OMIM:185070 |
Char Syndrome |
|
Patent ductus arteriosus, Mesoaxial foot polydactyly, Ventricular septal defect, Short middle pha... |
ORPHA:46627 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short phalanx of finger, Bifid tongue, Wide nasal bridge, Micrognathia, Camptodactyly, Cleft pala... |
OMIM:616894 |
Peho-Like Syndrome |
|
Retrognathia, Open mouth, Tapered finger, Short nose |
OMIM:617507 |
Tarp Syndrome |
|
Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Micrognathia,... |
OMIM:311900 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Triphalangeal thumb, Patent ductus arteriosus, Atrioventricular canal defect, Preaxial hand polyd... |
ORPHA:1120 |
Anaplastic Thyroid Carcinoma |
|
Tracheoesophageal fistula, Lymphadenopathy, Laryngotracheal stenosis, Dysphagia |
ORPHA:142 |
Townes-Brocks Syndrome 1 |
|
2-3 toe syndactyly, 2-4 finger syndactyly, Clinodactyly of the 5th toe, Metatarsal synostosis, Ch... |
OMIM:107480 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Abnormal thumb morphology, Microphthalmia, Thrombocytopenia, Neutropenia, Leukemia |
OMIM:614082 |
Nance-Horan Syndrome |
|
Mandibular prognathia, Prominent nose, Short metacarpal, Supernumerary tooth, Microphthalmia, Pro... |
ORPHA:627 |
Adenylosuccinate Lyase Deficiency |
|
Long philtrum, Short nose, Thin upper lip vermilion, Anteverted nares, Smooth philtrum |
ORPHA:46 |
Burn-Mckeown Syndrome |
|
Underdeveloped nasal alae, 2-3 toe syndactyly, Cleft upper lip, Mandibular prognathia, Ventricula... |
OMIM:608572 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft mandible, Exaggerated median tongue furrow, Micrognathia, Submucous cleft soft palate, Ever... |
OMIM:608670 |
Monosomy 18Q |
|
Tapered finger, Secundum atrial septal defect, Left aortic arch with right descending aorta and r... |
ORPHA:1600 |
Warburg Micro Syndrome 1 |
|
Wide nasal bridge, Micrognathia, Overlapping toe, Narrow mouth, Microphthalmia, Anteverted nares,... |
OMIM:600118 |
Waardenburg Syndrome, Type 2B |
|
White forelock, Heterochromia iridis, Premature graying of hair |
OMIM:600193 |
Codas Syndrome |
|
Ventricular septal defect, Short metacarpal, Delayed eruption of teeth, Extrahepatic biliary duct... |
ORPHA:1458 |
Subaortic Stenosis-Short Stature Syndrome |
|
Subvalvular aortic stenosis, Micrognathia, Synostosis of carpal bones, Microdontia, Biliary tract... |
ORPHA:3191 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Ventricular septal defec... |
OMIM:617205 |
Pfeiffer Syndrome Type 2 |
|
High palate, Finger syndactyly, Small hand, Toe syndactyly, Tracheomalacia, Anal atresia, Short n... |
ORPHA:93259 |
Lowry-Maclean Syndrome |
|
Retrognathia, Talon cusp, Midgut malrotation, Atrioventricular canal defect, Convex nasal ridge, ... |
ORPHA:2409 |
Cornelia De Lange Syndrome 2 |
|
Gastroesophageal reflux, High palate, Limited elbow movement, Small hand, Micrognathia, Clinodact... |
OMIM:300590 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Micrognathia, Prominent nose, Microphthalmia, Talipes equinovarus |
OMIM:616171 |
Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Single naris, Anophthalmia, Hypoplasia... |
OMIM:610829 |
Mirage Syndrome |
|
Patent ductus arteriosus, Gastroesophageal reflux, Leukopenia, Radial club hand, Achalasia, Esoph... |
OMIM:617053 |
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Underdeveloped nasal alae, High palate, Wide nasal bridge, Micrognathia, Clinodactyly of the 5th ... |
OMIM:248910 |
Hamamy Syndrome |
|
Tapered finger, Wide nasal bridge, Micrognathia, Everted lower lip vermilion, Smooth philtrum, Hy... |
OMIM:611174 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Convex nasal ridge, Micrognathia, Broad hallux, Abnormal subclavian artery morpholog... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Convex nasal ridge, Micrognathia, Broad hallux, Abnormal subclavian artery morpholog... |
ORPHA:353277 |
Dyskeratosis Congenita |
|
Neoplasm of the pancreas, Taurodontia, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopeni... |
ORPHA:1775 |
Elejalde Neuroectodermal Melanolysosomal Syndrome |
|
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... |
OMIM:256710 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Truncus arteriosus, Aniridia |
OMIM:206700 |
Acrorenal Syndrome |
|
Micrognathia, Abnormal morphology of ulna, Abnormality of tibia morphology, Aplasia/Hypoplasia of... |
ORPHA:971 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Short ribs, Atrial septal defect, Depressed nasal bridge, Preaxial polydactyly... |
OMIM:616546 |
Oculocutaneous Albinism Type 3 |
|
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... |
ORPHA:79433 |
Arthrogryposis, Distal, Type 2B1 |
|
Camptodactyly of finger, Absent phalangeal crease, Mandibular prognathia, High palate, Ulnar devi... |
OMIM:601680 |
22Q11.2 Duplication Syndrome |
|
Wide nose, Ventricular septal defect, Depressed nasal ridge, Aplasia/Hypoplasia of the thymus, Mi... |
ORPHA:1727 |
Carpenter Syndrome 2 |
|
Wide nasal bridge, Camptodactyly, Talipes equinovarus, Narrow palate, Atrial septal defect, Dextr... |
OMIM:614976 |
Ehlers-Danlos Syndrome, Musculocontractural Type, 2 |
|
Patent foramen ovale, High palate, Long philtrum, Mitral valve prolapse, Camptodactyly, Dental cr... |
OMIM:615539 |
Oculodentodigital Dysplasia |
|
Selective tooth agenesis, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Broad alveolar... |
OMIM:164200 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
|
2-3 toe syndactyly, Gastroesophageal reflux, Cleft upper lip, Short 5th finger, Achalasia, Ventri... |
OMIM:600987 |
Cardiofacioneurodevelopmental Syndrome |
|
Asplenia, Atrioventricular canal defect, Ventricular septal defect, Micrognathia, Camptodactyly, ... |
OMIM:619123 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Clinodactyly, Microphthalmia, Brachydactyly |
OMIM:610023 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cleft palate, Cleft upper lip, Microphthalmia |
OMIM:120433 |
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language |
|
2-3 toe syndactyly, Lobulated tongue, Clinodactyly of the 5th finger, Short philtrum, Short nose,... |
OMIM:613443 |
Meckel Syndrome, Type 2 |
|
Polydactyly, Intestinal malrotation, Bile duct proliferation, Microphthalmia, Postaxial hand poly... |
OMIM:603194 |
Heterotaxy, Visceral, 1, X-Linked |
|
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Hepatomegaly, Abdominal sit... |
OMIM:306955 |
Primary Ciliary Dyskinesia |
|
Asplenia, Double outlet right ventricle, Nasal congestion, Bronchiectasis, Polysplenia, Chronic s... |
ORPHA:244 |
Manitoba Oculotrichoanal Syndrome |
|
Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis |
OMIM:248450 |
Pde4D Haploinsufficiency Syndrome |
|
Short phalanx of finger, Micrognathia, Prominent nasal tip, Broad hallux, Abnormal dental enamel ... |
ORPHA:439822 |
1Q21.1 Microdeletion Syndrome |
|
Patent ductus arteriosus, High palate, Long philtrum, Abnormal cardiac septum morphology, Wide na... |
ORPHA:250989 |
Autosomal Recessive Omodysplasia |
|
Rhizomelia, Long philtrum, Micrognathia, Abnormal morphology of the radius, Elbow dislocation, Sh... |
ORPHA:93329 |
Even-Plus Syndrome |
|
Patent foramen ovale, High palate, Depressed nasal ridge, Hypodontia, Anal atresia, Atrial septal... |
OMIM:616854 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Wrist flexion contracture, Flexion contracture of toe, Slender long bone... |
OMIM:610758 |
Tetraploidy |
|
Aplasia/Hypoplasia affecting the eye, Radial club hand, Convex nasal ridge, Aplasia/Hypoplasia of... |
ORPHA:3305 |
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant |
|
Pierre-Robin sequence, Enlarged epiphyses, Epiphyseal dysplasia, Depressed nasal bridge, Antevert... |
OMIM:184840 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Long philtrum, Wide nasal bridge, Ulnar deviation of the wrist, Micrognathia, Clinodactyly, Short... |
OMIM:618577 |
Fibrochondrogenesis 2 |
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Metaphyseal cupping, Hypoplastic pubic bone, Hypoplastic ilia, Short long bone, Short ribs, Micro... |
OMIM:614524 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Absent nares, Single naris, Anophthalmia, Hyposmia, Bifid uvula, Submucous cleft hard palate, Fai... |
ORPHA:2250 |
Nevus Comedonicus Syndrome |
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Toe syndactyly, Preaxial polydactyly, Finger syndactyly |
ORPHA:64754 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Convex nasal ridge, Broad hallux, Talon cusp, Narrow palate, Avascular necrosis of the capital fe... |
ORPHA:353281 |
Zechi-Ceide Syndrome |
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Wide nose, Mandibular prognathia, Wide nasal bridge, Oligodontia, Short philtrum, Atrial septal d... |
ORPHA:217017 |
3Q29 Microduplication Syndrome |
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High palate, Ventricular septal defect, Ectopic anus, Deep philtrum, Toe syndactyly, Wide nasal b... |
ORPHA:251038 |
Cat Eye Syndrome |
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Patent ductus arteriosus, Biliary atresia, Rectal atresia, Ventricular septal defect, Volvulus, M... |
OMIM:115470 |
Teebi Hypertelorism Syndrome 1 |
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Aortic root aneurysm, Small hand, Natal tooth, Long philtrum, Ventricular septal defect, Microgna... |
OMIM:145420 |
Autosomal Recessive Robinow Syndrome |
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Camptodactyly of finger, Bifid tongue, Ectopic anus, Wide nasal bridge, Toe syndactyly, Micrognat... |
ORPHA:1507 |
Cohen Syndrome |
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Tapered finger, Micrognathia, Tooth agenesis, Gingival overgrowth, Genu valgum, Ventricular septa... |
ORPHA:193 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
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Wide nose, Iliac crest serration, Metaphyseal cupping, Vascular dilatation, Deep philtrum, Short ... |
OMIM:613320 |
Piebald Trait-Neurologic Defects Syndrome |
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Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... |
ORPHA:2885 |
Sirenomelia |
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Tracheoesophageal fistula, Aplasia/Hypoplasia of the radius, Anal atresia, Absence of the sacrum |
ORPHA:3169 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Absent gallbladder, Pancreatic hypoplasia, Biliary atresia, Patent ductus arteriosus, Patent fora... |
OMIM:600001 |
Adams-Oliver Syndrome |
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Leukopenia, Abnormality of the upper limb, Cirrhosis, Finger syndactyly, Pulmonary artery atresia... |
ORPHA:974 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
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Short phalanx of finger, Wide nasal bridge, Aplasia/hypoplasia of the femur, Toe syndactyly, Flar... |
OMIM:609945 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity |
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Radioulnar dislocation, High palate, Hypoplastic ilia, Abnormality of the elbow, Hip dysplasia, E... |
ORPHA:93359 |
Oculocerebral Syndrome With Hypopigmentation |
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Silver-gray hair, Hypopigmentation of the skin |
OMIM:257800 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
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Conical tooth, Dental malocclusion, Enamel hypoplasia, Wide nasal bridge, Microdontia, Oligodonti... |
OMIM:618727 |
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features |
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Retrognathia, Short nose, Broad nasal tip, Malar flattening, Open mouth |
OMIM:613670 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Retrognathia, 2-3 toe syndactyly, Patent foramen ovale, Mandibular prognathia, Micrognathia, Lens... |
OMIM:618914 |
Joubert Syndrome 10 |
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Deep philtrum, Wide nasal bridge, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
Waardenburg Syndrome Type 2 |
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Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... |
ORPHA:895 |
Al-Gazali-Bakalinova Syndrome |
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Polydactyly, Genu valgum, Tapered finger, Wide nasal bridge, Clinodactyly, Epiphyseal dysplasia, ... |
OMIM:607131 |
Mandibulofacial Dysostosis-Microcephaly Syndrome |
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Preaxial hand polydactyly, Micrognathia, Atrial septal defect, Short nose, Hypoplasia of the maxi... |
ORPHA:79113 |
Skeletal Dysplasia And Progressive Central Nervous System Degeneration, Lethal |
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Ventricular hypertrophy, Patent foramen ovale, Ulnar deviation of the hand or of fingers of the h... |
OMIM:602613 |
Pallister-Hall Syndrome |
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Short 4th metacarpal, Toe syndactyly, Hip dislocation, Distal shortening of limbs, Postaxial hand... |
OMIM:146510 |
Facial Paresis, Hereditary Congenital, 3 |
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High palate, Micrognathia, Short philtrum, Short nose, Downturned corners of mouth, Depressed nas... |
OMIM:614744 |
Marshall Syndrome |
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