Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormal finger morphology |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly type A |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Absent stapes head, Bilateral ... |
OMIM:128980 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Deafness, Progressive, With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
OMIM:601449 |
Progressive Deafness With Stapes Fixation |
|
Stapes ankylosis, Bilateral conductive hearing impairment |
ORPHA:3235 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormality of the stapes, External ear malformation, Conductive hearing impairment, Aplasia/Hypo... |
ORPHA:3232 |
Polydactyly, Postaxial, Type A1 |
|
Syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Tr... |
OMIM:174200 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Triphalangeal Thumb With Polysyndactyly |
|
Finger syndactyly, Preaxial hand polydactyly, Postaxial hand polydactyly, Triphalangeal thumb, Br... |
OMIM:190605 |
Polydactyly, Preaxial Ii |
|
Syndactyly, Duplication of thumb phalanx, Opposable triphalangeal thumb, Preaxial hand polydactyl... |
OMIM:174500 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Broad hallux, Hallux varus |
OMIM:234280 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
OMIM:601127 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... |
OMIM:614429 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Ossicular Malformations, Familial |
|
Congenital conductive hearing impairment, Abnormality of the middle ear ossicles |
OMIM:165680 |
Polydactyly, Postaxial, Type A5 |
|
Syndactyly, Postaxial hand polydactyly, Cutaneous finger syndactyly, Metacarpal synostosis |
OMIM:263450 |
Syndactyly Type 1 |
|
Finger syndactyly, Toe syndactyly, Symphalangism affecting the phalanges of the hand |
ORPHA:93402 |
Otosclerosis 7 |
|
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Atrial Septal Defect 2 |
|
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... |
OMIM:607941 |
Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... |
ORPHA:90646 |
Brachydactyly, Type C |
|
Triangular shaped middle phalanx of the 2nd finger, Hypersegmentation of proximal phalanx of seco... |
OMIM:113100 |
Non-Syndromic Genetic Deafness |
|
Moderate hearing impairment, Low-frequency sensorineural hearing impairment, Conductive hearing i... |
ORPHA:87884 |
Congenital Heart Defects, Multiple Types, 6 |
|
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... |
OMIM:613854 |
Cayler Cardiofacial Syndrome |
|
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect |
OMIM:125520 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis |
OMIM:249670 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Broad toe, Preaxial hand polydactyly, 1-2 toe complete cutaneous syndactyly, Preaxial foot polyda... |
OMIM:186350 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... |
ORPHA:3216 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Cranioacrofacial Syndrome |
|
Ventricular septal defect, Pulmonic stenosis |
OMIM:122850 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... |
OMIM:618780 |
Congenital Primary Aphakia |
|
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... |
ORPHA:83461 |
Pulmonic Stenosis And Deafness |
|
Ventricular hypertrophy, Pulmonic stenosis |
OMIM:178651 |
Congenital Heart Defects, Multiple Types, 5 |
|
Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Ao... |
OMIM:617912 |
Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Retinal arterial macroaneurysms, Pulmonic stenosis |
OMIM:614224 |
Congenital Heart Defects, Multiple Types, 4 |
|
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Hypo... |
OMIM:615779 |
Duane-Radial Ray Syndrome |
|
Abnormal nasopharynx morphology, Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocatio... |
OMIM:607323 |
Ectrodactyly-Polydactyly Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Postaxial hand polydactyly, Symphalangism affecting t... |
ORPHA:1892 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Short fifth metatarsal, 2-3 toe cutaneous... |
OMIM:617642 |
Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, 4-5 finger syndactyly, Short 5th finger |
OMIM:186100 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Supravalvular Aortic Stenosis |
|
Pulmonary artery stenosis, Peripheral arterial stenosis, Pulmonic stenosis, Supravalvular aortic ... |
OMIM:185500 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft... |
ORPHA:952 |
Distal Deletion 13Q |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormality of the hand, Microcephaly, Optic atro... |
ORPHA:1590 |
Verheij Syndrome |
|
Branchial cyst, Vertebral fusion, Ventricular septal defect, Optic nerve hypoplasia, Anteverted n... |
OMIM:615583 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Ventricular septal defect, Cyclopia, Optic nerve hypoplasia, Micrognathia,... |
OMIM:301043 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Missing r... |
ORPHA:3186 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Short thumb, Postaxial hand polydactyly, Short 5th finger, Short 2nd toe |
OMIM:176305 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Conductive hearing impairment, Stapes ankylosis, Congenital stapes ankylosis |
OMIM:184460 |
Symphalangism, Proximal, 1A |
|
Conductive hearing impairment, Stapes ankylosis |
OMIM:185800 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom... |
ORPHA:3427 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the middle ear, Stenosis of the external aud... |
OMIM:108760 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Pelvis-Shoulder Dysplasia |
|
Aplasia/Hypoplasia of the scapulae, Micrognathia, Aplasia/Hypoplasia of the fibula, Prominent pro... |
ORPHA:2839 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Shor... |
ORPHA:233 |
Trisomy 13 |
|
Anophthalmia, Narrow chest, Atrial septal defect, Iris coloboma, Bilateral single transverse palm... |
ORPHA:3378 |
Steinfeld Syndrome |
|
Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Missing ribs,... |
OMIM:184705 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome |
|
Micrognathia, Carious teeth, Supernumerary tooth, Abnormal antihelix morphology, Hypoplasia of th... |
ORPHA:3145 |
Blomstrand Lethal Chondrodysplasia |
|
Micrognathia, Narrow chest, Distal shortening of limbs, Short metacarpal, Rhizomelia, Anteverted ... |
ORPHA:50945 |
Diamond-Blackfan Anemia 16 |
|
Atrial septal defect, Pulmonic stenosis |
OMIM:617408 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Pulmonary valve atres... |
ORPHA:210122 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Mandibular prognathia, Thoracic scoliosis, Bicuspid aortic valve, Micrognathia... |
ORPHA:508498 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Genitopalatocardiac Syndrome |
|
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... |
OMIM:231060 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
1-2 toe syndactyly, Mesoaxial hand polydactyly, 4-5 toe syndactyly, Split hand, Split foot |
OMIM:616890 |
8P23.1 Duplication Syndrome |
|
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis |
ORPHA:251076 |
Congenital Heart Defects, Multiple Types, 9 |
|
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... |
OMIM:620294 |
Fixed Subaortic Stenosis |
|
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... |
ORPHA:3092 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Aqueductal stenosis, Absen... |
OMIM:154400 |
Otosclerosis 1 |
|
Conductive hearing impairment, Otosclerosis |
OMIM:166800 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Treacher Collins Syndrome 3 |
|
Micrognathia, Microtia, Hypoplasia of the zygomatic bone, Conductive hearing impairment, Malar fl... |
OMIM:248390 |
Aortic Valve Disease 2 |
|
Aortic regurgitation, Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarc... |
OMIM:614823 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... |
ORPHA:401942 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Delayed eruption of teeth, Malar flattening, Maxillozygomatic hypoplasia, Low-set, posteriorly ro... |
ORPHA:2972 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Hypoplasia of the maxilla, Micrognathia, Short neck, Ankyloblepharon, ... |
OMIM:263650 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Neural tube defect, Abnormality of the vertebral column, Microphthalm... |
OMIM:600776 |
Chime Syndrome |
|
Depressed nasal ridge, Short palm, Aplastic clavicle, Supernumerary tooth, Aplasia/Hypoplasia of ... |
ORPHA:3474 |
Thrombocytopenia-Absent Radius Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Lateral clavicle hook, Femoral bowing, Abnormal shoul... |
OMIM:274000 |
Microcephaly-Micromelia Syndrome |
|
Micromelia, Craniosynostosis, Missing ribs, Micrognathia, Short tibia, Humeroradial synostosis, A... |
OMIM:251230 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Elbow dislocation, Absent radius,... |
OMIM:171480 |
Oculoauricular Syndrome |
|
Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c... |
OMIM:612109 |
Charge Syndrome |
|
Anophthalmia, Aqueductal stenosis, Abnormal tibia morphology, Hemivertebrae, Eyelid coloboma, Hyp... |
ORPHA:138 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Cofs Syndrome |
|
Abnormality of retinal pigmentation, Death in infancy, Cataract, Cerebral calcification, Camptoda... |
ORPHA:1466 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior... |
OMIM:601357 |
Tricuspid Atresia |
|
Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s... |
ORPHA:1209 |
Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Decreased response to growth hormone stimulation t... |
OMIM:214800 |
Split-Foot Malformation-Mesoaxial Polydactyly Syndrome |
|
Aplasia/Hypoplasia of the phalanges of the 3rd toe, Mesoaxial foot polydactyly, 1-2 toe syndactyl... |
ORPHA:488232 |
Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Deafness, Autosomal Dominant 23 |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:605192 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Congenital Heart Defects, Multiple Types, 2 |
|
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... |
OMIM:614980 |
Cataract 50 With Or Without Glaucoma |
|
Retinal detachment, Cataract, Persistent pupillary membrane |
OMIM:620253 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Aminopterin/Methotrexate Embryofetopathy |
|
Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Micromelia, Micrognathia, Holoprosencepha... |
ORPHA:1908 |
3Q29 Microduplication Syndrome |
|
Cataract, Ventricular septal defect, Toe syndactyly, Sclerocornea, Sandal gap, Short neck, Microc... |
ORPHA:251038 |
Cardiac Valvular Dysplasia 2 |
|
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... |
OMIM:620067 |
Right Atrial Isomerism |
|
Right atrial isomerism, Inguinal hernia, Ventricular septal defect, Dextrocardia, Aortopulmonary ... |
OMIM:208530 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Optic pit, Chorioretinal coloboma, Microphthalmia, Microcoria, Iris coloboma |
OMIM:616428 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Pulmonary artery atresia, Ventricular septal defect |
OMIM:178370 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Hearing abn... |
ORPHA:1352 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Partial Atrioventricular Septal Defect |
|
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... |
ORPHA:1330 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Depressed nasal bridge, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:2835 |
1Q21.1 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Agenesis of corpus callosum, Iris coloboma, Broad hallux phalanx,... |
ORPHA:250989 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Wide nose, Hypoplasia of the zygomatic bone, Anteverted nares |
ORPHA:3074 |
Emanuel Syndrome |
|
Congenital hip dislocation, Micrognathia, Atrial septal defect, Dandy-Walker malformation, Patent... |
OMIM:609029 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Micrognathia, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxate... |
OMIM:311895 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Short metacarpal, Rhizomelia, Postaxial hand polydactyly, Broad palm, Short foot, Mesomelia, Brac... |
OMIM:611263 |
22Q11.2 Duplication Syndrome |
|
Epicanthus, Wide nose, Ventricular septal defect, Hearing impairment, Micrognathia, Microcephaly,... |
ORPHA:1727 |
Neu-Laxova Syndrome 1 |
|
Micromelia, Micrognathia, Short neck, Calcaneovalgus deformity, Depressed nasal ridge, Neonatal d... |
OMIM:256520 |
Stankiewicz-Isidor Syndrome |
|
Sacral dimple, Ventricular septal defect, Micrognathia, Absent thumb, Short thumb, Patent ductus ... |
OMIM:617516 |
Cat Eye Syndrome |
|
Epicanthus, Ventricular septal defect, Micrognathia, Absent radius, Patent ductus arteriosus, Mic... |
OMIM:115470 |
Bosma Arhinia Microphthalmia Syndrome |
|
Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Cataract, Absent tragus, ... |
OMIM:603457 |
Focal Dermal Hypoplasia |
|
Linear hyperpigmentation, Anophthalmia, Congenital hip dislocation, Cleft ala nasi, Osteopathia s... |
OMIM:305600 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Micrognathia, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar emine... |
OMIM:239800 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Finger syndactyly, Cataract, Toe syndactyly, Rocker bottom foot, Spina bifida, Microg... |
OMIM:616038 |
Trisomy 18 |
|
Microcornea, Pointed helix, Holoprosencephaly, Atrial septal defect, Iris coloboma, Bilateral sin... |
ORPHA:3380 |
Megalocornea |
|
Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris... |
OMIM:309300 |
Emanuel Syndrome |
|
Congenital hip dislocation, Hooded eyelid, Micrognathia, Atrial septal defect, Agenesis of corpus... |
ORPHA:96170 |
Oculoauriculofrontonasal Syndrome |
|
Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Micrognathia, Microceph... |
ORPHA:398156 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Mandibular prognathia, Inguinal hernia, Anophthalmia, Abnormal size of the palpebral fissures, Co... |
ORPHA:1101 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft lip and palate, ... |
ORPHA:1104 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Depressed nasal bridge, Sparse eyebrow,... |
OMIM:167730 |
Nail-Patella Syndrome |
|
Back pain, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Hypoplasia... |
OMIM:161200 |
Holoprosencephaly |
|
Anophthalmia, Short neck, Synophrys, Panhypopituitarism, Depressed nasal ridge, Abnormal form of ... |
ORPHA:2162 |
Heterotaxy, Visceral, 12, Autosomal |
|
Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent... |
OMIM:619702 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Stillbirth, Polydactyly, Abnormal hip bone morph... |
ORPHA:294975 |
Thrombocytopenia-Absent Radius Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Tibial torsion, Micrognathia, Absent radius... |
ORPHA:3320 |
Acrofacial Dysostosis, Catania Type |
|
Microretrognathia, Finger syndactyly, Brachydactyly, Abnormality of the dentition, Carious teeth,... |
ORPHA:1786 |
Acrofacial Dysostosis, Cincinnati Type |
|
Ablepharon, Aplastic zygomatic arch, Choanal atresia, Micrognathia, Hypoplasia of the maxilla, Mi... |
OMIM:616462 |
Treacher Collins Syndrome 2 |
|
Microretrognathia, Preauricular pit, Choanal atresia, Micrognathia, Fusion of middle ear ossicles... |
OMIM:613717 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... |
OMIM:618845 |
Conotruncal Heart Malformations |
|
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... |
OMIM:217095 |
Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Ventricular septal defect, Corneal opacity, Microc... |
ORPHA:290 |
Cousin Syndrome |
|
Micrognathia, Short neck, Prominent protruding coccyx, Microcornea, Hypoplastic iliac wing, Clino... |
OMIM:260660 |
Multifocal Atrial Tachycardia |
|
Atrial flutter, Tachycardia, Ventricular septal defect, Atrial fibrillation, Paroxysmal atrial ta... |
ORPHA:3282 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Hypoplasia of the fovea, Iris cyst, Optic atrophy |
OMIM:620086 |
Spondylo-Ocular Syndrome |
|
Abnormal eyebrow morphology, Retinal detachment, Aplasia/Hypoplasia of the lens, Ventricular sept... |
ORPHA:85194 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Frontal bossing, Posteriorly rotated ears, Optic nerve hypoplasia, Broad proximal phalanges of th... |
OMIM:607597 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cerebellar vermis hypoplasia, Depressed nasal bridge, Micromelia, Aplastic clavicle, Postaxial po... |
OMIM:616546 |
Heterotaxy, Visceral, 6, Autosomal |
|
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... |
OMIM:614779 |
Jacobsen Syndrome |
|
Micrognathia, Short neck, Microcornea, Eyelid coloboma, Holoprosencephaly, Chorioretinal coloboma... |
OMIM:147791 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip |
OMIM:600251 |
Coats Disease |
|
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... |
ORPHA:190 |
Holt-Oram Syndrome |
|
Thoracic scoliosis, Aplasia of the pectoralis major muscle, Abnormal carpal morphology, Finger cl... |
OMIM:142900 |
Autosomal Dominant Keratitis |
|
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... |
ORPHA:2334 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Bicuspid aortic valve, Left atria... |
OMIM:616201 |
Criss-Cross Heart |
|
Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten... |
ORPHA:1461 |
Heterotaxy, Visceral, 8, Autosomal |
|
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... |
OMIM:617205 |
Aniridia 2 |
|
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma |
OMIM:617141 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Single transverse palmar crease, Micrognathia, Narrow chest, Advanced eruption of teeth, Distally... |
OMIM:619148 |
Nephronophthisis 16 |
|
Situs inversus totalis, Patent ductus arteriosus, Aortic valve stenosis, Pulmonic stenosis, Hyper... |
OMIM:615382 |
Familial Osteodysplasia, Anderson Type |
|
Mandibular prognathia, Prominent nose, Long nose, Depressed nasal ridge, Abnormal form of the ver... |
ORPHA:2769 |
Aortic Valve Disease 1 |
|
Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou... |
OMIM:109730 |
Frontonasal Dysplasia 1 |
|
Hypoplasia of the maxilla, Coloboma, Pectoral muscle hypoplasia/aplasia, Conductive hearing impai... |
OMIM:136760 |
Fanconi Anemia, Complementation Group B |
|
Death in infancy, Ventricular septal defect, Optic disc hypoplasia, Hypergonadotropic hypogonadis... |
OMIM:300514 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Bicuspid aortic valve, Parachute mitral valve, Atrial septal defect, Atrioventricular canal defec... |
OMIM:265380 |
Fraser Syndrome 1 |
|
Aplasia/Hypoplasia of the thumb, Anophthalmia, Cleft ala nasi, Malformed lacrimal duct, Cutaneous... |
OMIM:219000 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Heart And Brain Malformation Syndrome |
|
Attached earlobe, Cerebellar vermis hypoplasia, Ventricular septal defect, Posteriorly rotated ea... |
OMIM:616920 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypertensive retinopathy, Pulsatil... |
ORPHA:29072 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Microcornea, Limbal dermoid, Iris coloboma, Encephalocele, Depressed nasal... |
ORPHA:1791 |
Postaxial Oligodactyly, Tetramelic |
|
Radial bowing, Aplasia of the 5th metacarpal, Single transverse palmar crease, Absent fifth metat... |
OMIM:176240 |
22Q11.2 Deletion Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Short neck, Abnormal aortic arch morphology, Hypoplasia... |
ORPHA:567 |
Malan Syndrome |
|
Mandibular prognathia, Hyperplasia of the premaxilla, Coxa valga, Long fingers, Gingival overgrow... |
OMIM:614753 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Abnormality of the temporomandibular joint, Single transverse palmar crease, Micrognathia, Metaph... |
ORPHA:536471 |
Ritscher-Schinzel Syndrome 1 |
|
Syndactyly, Ventricular septal defect, Decreased response to growth hormone stimulation test, Adr... |
OMIM:220210 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Microretrognathia, Hydranencephaly, Anteverted nares, Single transverse palmar crease, Narrow nas... |
OMIM:236500 |
Kniest Dysplasia |
|
Enlarged epiphyses, Rhegmatogenous retinal detachment, Abnormality of the epiphysis of the femora... |
ORPHA:485 |
Cleidocranial Dysplasia 1 |
|
Micrognathia, Absent frontal sinuses, Short middle phalanx of the 2nd finger, Coxa vara, Narrow c... |
OMIM:119600 |
Florid Cemento-Osseous Dysplasia |
|
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... |
ORPHA:83451 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal finger morphology, Ectrodactyly, Oligodactyly, Abnormal metacarpal morphology |
ORPHA:2730 |
Velocardiofacial Syndrome |
|
Retinal vascular tortuosity, Hypoparathyroidism, Inguinal hernia, Posterior embryotoxon, Ventricu... |
OMIM:192430 |
Baller-Gerold Syndrome |
|
Limited elbow movement, Micrognathia, Patellar hypoplasia, Choanal stenosis, Conductive hearing i... |
OMIM:218600 |
Cardiac Valvular Dysplasia 1 |
|
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... |
OMIM:212093 |
8Q24.3 Microdeletion Syndrome |
|
Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Ectopic posterior pituitary, Sing... |
ORPHA:508488 |
Walker-Warburg Syndrome |
|
Anophthalmia, Chorioretinal dysplasia, Protruding ear, Microcornea, Abnormal optic nerve morpholo... |
ORPHA:899 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Ventricular septal defect, Micrognathia, Short neck, Microcephaly, Underdeveloped nasal alae, Abn... |
ORPHA:2516 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Mandibular prognathia, Abnormal finger morphology, Symphalangism affecting the phalanges of the h... |
ORPHA:2658 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Mandibular prognathia, Wide nasal bridge, Protruding ear, Hypoplasia of the zygomatic bone, Low-s... |
ORPHA:1778 |
Proboscis Lateralis |
|
Anophthalmia, Abnormal morphology of bony orbit of skull, Single naris, Abnormality of the maxill... |
ORPHA:141099 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Hypoplasia of the iris, Agenesis of corpus callosum, Iri... |
OMIM:222448 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
X-Linked Mandibulofacial Dysostosis |
|
Low-set, posteriorly rotated ears, Prominent nasal bridge, Micrognathia, Sensorineural hearing im... |
ORPHA:1131 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Long nose, Underdeveloped nasal alae, Aplasia/Hy... |
ORPHA:1968 |
Mullegama-Klein-Martinez Syndrome |
|
Depressed nasal bridge, Facial palsy, Curly eyelashes, Micrognathia, Microcephaly, Prominent nose... |
OMIM:301022 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 3rd toe, Split hand, Split foot, Triphalangeal thumb, Short 2nd finger, Brachydactyly |
OMIM:190680 |
Gillespie Syndrome |
|
Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Truncus arteriosus, Thin corpus callosum |
OMIM:206700 |
Autosomal Dominant Coarctation Of Aorta |
|
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... |
ORPHA:1455 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Anteverted ears, 2-3 toe cutaneous syndactyly, Microcornea, Laterally curved eyebro... |
OMIM:300166 |
Aniridia 1 |
|
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... |
OMIM:106210 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Communicating hydrocephalus, Telecanthus, Corneal opacity, Anteverted nares, Depressed nasal brid... |
ORPHA:1064 |
Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio... |
ORPHA:2092 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete partition... |
OMIM:303110 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, Triphalangeal thumb |
ORPHA:2091 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Facial palsy, Macular coloboma, Coarctation of aorta, Retinal coloboma, Interrupted aortic arch |
OMIM:107550 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis |
ORPHA:1068 |
Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt... |
OMIM:206920 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Conductive hearing impairment, Chronic otitis media, Atresia of the external auditory canal |
OMIM:221320 |
Roberts-Sc Phocomelia Syndrome |
|
Micrognathia, Short neck, Tetraphocomelia, Coloboma, Eyelid coloboma, Shallow orbits, Phocomelia,... |
OMIM:268300 |
Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia |
OMIM:172880 |
Cataract 21, Multiple Types |
|
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... |
OMIM:610202 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Mandibular prognathia, Low-set, posteriorly rotated ears, Prominent nasal bridge, Carious teeth, ... |
ORPHA:1110 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Thoracic dysplasia, Narrow chest, Holoprosencephaly, Short palm, ... |
OMIM:269860 |
Megabladder, Congenital |
|
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... |
OMIM:618719 |
Yunis-Varon Syndrome |
|
Congenital hip dislocation, Cerebellar vermis hypoplasia, Single transverse palmar crease, Sclero... |
OMIM:216340 |
Pelvis-Shoulder Dysplasia |
|
Back pain, Hypoplastic scapulae, Congenital hip dislocation, Lumbar hyperlordosis, Hypoplastic il... |
OMIM:169550 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan... |
OMIM:186500 |
Aorta Coarctation |
|
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... |
ORPHA:1457 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Abnormal heart valve morphology, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:2868 |
Phaver Syndrome |
|
Abnormal form of the vertebral bodies, Triphalangeal thumb, Conductive hearing impairment, Pulmon... |
ORPHA:2876 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Dilated cardiomyopathy, Pulmonic stenosis |
ORPHA:79159 |
Unilateral Ocular Duplication |
|
Encephalocele, Frontal bossing, Abnormal pupil morphology, Midline facial cleft, Microcornea, Dol... |
ORPHA:3374 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Abnormal aortic arch morphology... |
ORPHA:860 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Wagro Syndrome |
|
Mandibular prognathia, Cataract, Corneal opacity, Micrognathia, Low-set ears, Aniridia, Malar fla... |
OMIM:612469 |
Nager Syndrome |
|
Low-set, posteriorly rotated ears, Micrognathia, Hypoplasia of the maxilla, Abnormal nasal morpho... |
ORPHA:245 |
Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Micrognathia, Hydrocephalus, Coarctation of aorta, Bifid thoracic vert... |
ORPHA:268249 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:614262 |
Jacobsen Syndrome |
|
Short neck, Abnormal form of the vertebral bodies, Microcornea, Eyelid coloboma, Pachygyria, Agen... |
ORPHA:2308 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Corneal opacity, Missing ribs, External ear malfor... |
ORPHA:1647 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Restrictive cardiomyopathy, Tricuspid regurgitation, Pulmonary insufficiency, Pulmonic stenosis |
OMIM:619433 |
Wagner Vitreoretinopathy |
|
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... |
OMIM:143200 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
ORPHA:228190 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Hypoplasia of the maxilla, Finger clinodactyly, Pectoral muscle hypoplasia/aplasia, Eyelid colobo... |
ORPHA:306542 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Secundum atrial septal defect, Abnormal EKG, Pulmonic stenosis |
OMIM:178650 |
Weill-Marchesani Syndrome |
|
Aortic valve stenosis, Ventricular septal defect, Mitral regurgitation, Pulmonic stenosis |
ORPHA:3449 |
Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... |
ORPHA:199306 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Prominence of the premaxilla, Congenital hip dislocation, Deviation of finger, Narrow mouth, Mala... |
ORPHA:2412 |
Iris Pigment Layer, Cleavage Of |
|
Cataract, Peripheral retinal detachment |
OMIM:147610 |
Rhiny |
|
Short nose, Anteverted nares |
OMIM:180360 |
Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Hypoplasia of the zygomatic bone, Prominent nasal bridge, Protruding ear |
ORPHA:319171 |
Craniodiaphyseal Dysplasia |
|
Conductive hearing impairment, Stenosis of the external auditory canal |
ORPHA:1513 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitary median maxil... |
ORPHA:66625 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis |
OMIM:617992 |
Congenital Gerbode Defect |
|
Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right... |
ORPHA:99095 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Pulmonary artery atresia, Agenesis of corpus callosum, Postaxial foot polydactyly, Deep palmar cr... |
OMIM:301056 |
Recombinant Chromosome 8 Syndrome |
|
Posteriorly rotated ears, Ventricular septal defect, Anteverted nares, Micrognathia, Pectus excav... |
OMIM:179613 |
Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal morphology of the radius, Anophthalmia, Absent septum pellucidum, Aplastic clavicle, Hia... |
ORPHA:2538 |
Truncus Arteriosus |
|
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... |
ORPHA:3384 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Anteverted nares, Depressed nasal bridge, Choanal atresia, Preauricular skin furrow, Hearing abno... |
ORPHA:1555 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Fanconi Anemia |
|
Abnormal eyelid morphology, Micrognathia, Abnormal femur morphology, Abnormality of skin pigmenta... |
ORPHA:84 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Delayed eruption of primary teeth, Hypoplasia of the m... |
OMIM:620099 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Meckel Syndrome |
|
Anophthalmia, Sclerocornea, Micrognathia, Depressed nasal ridge, Microcornea, Dandy-Walker malfor... |
ORPHA:564 |
Marfanoid Habitus With Situs Inversus |
|
Aortic regurgitation, Situs inversus totalis, Mitral valve prolapse, Aortic root aneurysm, Pulmon... |
OMIM:609008 |
Split-Hand/Foot Malformation 4 |
|
Syndactyly, Aplasia/Hypoplasia of the phalanges of the hand, Split hand, Aplasia/Hypoplasia of th... |
OMIM:605289 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... |
ORPHA:216694 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Limited elbow extension and supination, Brachydactyly, Ventricular septal defect, Prominent nasal... |
ORPHA:401935 |
Noonan Syndrome 9 |
|
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta |
OMIM:616559 |
Toluene Embryopathy |
|
Micrognathia, Protruding ear, Hypoplasia of the zygomatic bone, Low-set ears, Short nose |
ORPHA:1920 |
Distal Deletion 19P |
|
Umbilical hernia, Pulmonary valve atresia, Ventricular septal defect, Tricuspid valve prolapse |
ORPHA:96129 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the elbow, Abnormal rib morphology, Pectus carinatum, Radioulna... |
ORPHA:3268 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Double Outlet Right Ventricle |
|
Tachycardia, Ventricular septal defect, Double outlet right ventricle, Heart murmur, Coarctation ... |
ORPHA:3426 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Mandibular prognathia, Hearing impairment, Microcephaly, Pectus excavatum, Abnormal digit morphol... |
OMIM:268850 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Birdshot Chorioretinopathy |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... |
ORPHA:179 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Hydranencephaly, Camptodactyly of finger, Aplasia/Hypoplasia of the cerebellum, Micrognathia, Sho... |
ORPHA:2570 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... |
OMIM:606217 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Micrognathia, Hypoplasia of the maxilla, Short... |
OMIM:201000 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Bicuspid aortic valve, Premature thelarche, Abnormal hand morphology, Osteolysis involving bones ... |
ORPHA:371428 |
Burn-Mckeown Syndrome |
|
Mandibular prognathia, Atrial septal defect, Inguinal hernia, Ventricular septal defect, Choanal ... |
OMIM:608572 |
Scimitar Syndrome |
|
Heart block, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle, Patent ductus a... |
ORPHA:185 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Parachute mitral valve, Prominent nose, Synophrys, Atrial septal defect, Pulmonary artery atresia... |
OMIM:618316 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Short neck, Polydactyly, Talipes equinovaru... |
OMIM:613885 |
Oculocerebrocutaneous Syndrome |
|
Congenital hip dislocation, Anophthalmia, Cleft ala nasi, Abnormal thorax morphology, Orbital enc... |
OMIM:164180 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... |
ORPHA:284169 |
Ablepharon Macrostomia Syndrome |
|
Omphalocele, Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger... |
ORPHA:920 |
Mohr Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Lobulated tongue, High palate, Short palm, Clinodactyly ... |
OMIM:252100 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... |
OMIM:225200 |
Aural Atresia, Congenital |
|
Conductive hearing impairment, Atresia of the external auditory canal |
OMIM:607842 |
Sweeney-Cox Syndrome |
|
Uplifted earlobe, Micrognathia, Narrow chest, 2-5 toe syndactyly, Patent foramen ovale, 2-4 finge... |
OMIM:617746 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short neck, Short metatarsal,... |
OMIM:609945 |
3P25.3 Microdeletion Syndrome |
|
Mandibular prognathia, Cerebral white matter atrophy, Proximal placement of thumb, Micrognathia, ... |
ORPHA:435638 |
Wagr Syndrome |
|
Cataract, Micrognathia, Microcephaly, Hearing abnormality, Aplasia/Hypoplasia of the iris, Scolio... |
ORPHA:893 |
Ventricular Septal Defect 3 |
|
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect |
OMIM:614432 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal intervertebral disk morphology, Micromelia, Micrognathia, Short neck, Prominent nose, Lo... |
ORPHA:2636 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma |
OMIM:614497 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Parie... |
OMIM:603671 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Telecanthus, Rieger anomaly, Abnormal auditory evoked potentials, Coxa valga, Hypoplasia of the m... |
OMIM:109120 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Short neck, Epicanthus inversus, Agene... |
OMIM:249000 |
Microphthalmia With Limb Anomalies |
|
Micrognathia, Hypoplasia of the maxilla, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot ol... |
ORPHA:1106 |
Brachydactyly-Syndactyly Syndrome |
|
Syndactyly, Finger syndactyly, Camptodactyly, Short phalanx of finger, Short digit, Oligodactyly,... |
OMIM:610713 |
Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Ventricular septal defect, Hypogonadotropic hypogonadism, Hearing impairment, Tapered... |
OMIM:617159 |
Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Cataract, Aplasia/Hypoplasia of the patella, Aniridia, Ptosis |
ORPHA:1069 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Micrognathia, Unilateral radial aplasia, Synophrys, Aplasia of the 1st metacarpal, Eruption failu... |
ORPHA:476126 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Anophthalmia, Cataract, Rhizomelia, Sclerocornea, Precocious puberty, 2-3 toe syndact... |
OMIM:615877 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Ventricular septal defect, Microcephaly, Underdeveloped nasal alae, Hydranencephaly, Truncus arte... |
OMIM:601355 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Single transverse palmar crease, Synophrys, Hemivertebrae, Coxa vara, Pectus carinatum, Clinodact... |
OMIM:614701 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment |
OMIM:251800 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Overriding aorta, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Double outle... |
ORPHA:3304 |
Treacher-Collins Syndrome |
|
Micrognathia, Hypoplasia of the maxilla, Glossoptosis, High palate, Encephalocele, Branchial fist... |
ORPHA:861 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Retinitis Pigmentosa 40 |
|
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... |
OMIM:613801 |
Ulnar Hemimelia |
|
Glenoid fossa hypoplasia, Limited elbow movement, Abnormal calcification of the carpal bones, Lim... |
ORPHA:93320 |
Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Micrognathia, Mesomelic arm shortening, Cleft palate... |
OMIM:249710 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Omphalocele, Frontal bossing, Bowing of the long bones, Cloverleaf skull, Rhizomelia, Abnormal cl... |
ORPHA:93267 |
Occipital Horn Syndrome |
|
Cerebral calcification, Venous insufficiency, Coxa vara, Humerus varus, Pectus carinatum, Narrow ... |
ORPHA:198 |
Left Ventricular Noncompaction 1 |
|
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... |
OMIM:604169 |
Cleidocranial Dysplasia |
|
Mandibular prognathia, Delayed eruption of teeth, Sinusitis, Depressed nasal bridge, Abnormal den... |
ORPHA:1452 |
Crane-Heise Syndrome |
|
Low-set, posteriorly rotated ears, Finger syndactyly, Abnormally ossified vertebrae, Toe syndacty... |
ORPHA:1512 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Dextrocardia, Proximal placement of thumb, Absent radius, Hydroceph... |
OMIM:314390 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Epicanthus, Brachydactyly... |
ORPHA:1390 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Short neck, Abnormality of the thyroid ... |
ORPHA:2563 |
Mosaic Trisomy 9 |
|
Micromelia, Micrognathia, Short neck, Hemivertebrae, Finger clinodactyly, Biparietal narrowing, S... |
ORPHA:99776 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Widely-spaced maxillary centra... |
ORPHA:363417 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Patent ductus arteriosus, Part... |
OMIM:619657 |
Hydrolethalus |
|
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micromelia, Micrognath... |
ORPHA:2189 |
Liberfarb Syndrome |
|
Optic disc pallor, Bone spicule pigmentation of the retina, Microcephaly, Retinal pigment epithel... |
OMIM:618889 |
Heart Defects-Limb Shortening Syndrome |
|
Atrial septal defect, Ventricular septal defect, Abnormal tricuspid valve morphology, Abnormal mi... |
ORPHA:1354 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth |
OMIM:137550 |
Microphthalmia, Syndromic 3 |
|
Anophthalmia, Anterior pituitary hypoplasia, Sclerocornea, Hemivertebrae, Coloboma, Agenesis of c... |
OMIM:206900 |
Limb Body Wall Complex |
|
Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Atrial septal defect,... |
ORPHA:2369 |
Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia, Cataract, Iris coloboma |
OMIM:610092 |
Sarcosinemia |
|
Hypertrophic cardiomyopathy, Pulmonic stenosis |
ORPHA:3129 |
Polyvalvular Heart Disease Syndrome |
|
Tricuspid regurgitation, Abnormal heart valve morphology, Mitral valve prolapse, Pulmonic stenosi... |
ORPHA:228410 |
Distal Deletion 6P |
|
Micrognathia, Hypoplasia of the iris, Vertebral segmentation defect, Short palm, Clinodactyly of ... |
ORPHA:96125 |
Diprosopus |
|
Abnormality of retinal pigmentation, Abnormality of the nose, External ear malformation, Anenceph... |
ORPHA:1681 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Isolated Aniridia |
|
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly |
ORPHA:250923 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia... |
OMIM:611638 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Noonan Syndrome 11 |
|
Atrial septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis |
OMIM:618499 |
Split-Hand/Foot Malformation 6 |
|
Finger syndactyly, Toe syndactyly, Split hand, Hand oligodactyly, Split foot, Foot oligodactyly |
OMIM:225300 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Mandibular prognathia, Bicuspid aortic valve, Single transverse palmar crease, Micrognathia, Shor... |
OMIM:612474 |
Gracile Bone Dysplasia |
|
Death in infancy, Hydrocephalus, Flared metaphysis, Thin ribs, Slender long bone, Aniridia, Micro... |
OMIM:602361 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Micrognathia, Secundum atrial septal defect, Abnormally... |
OMIM:249420 |
Pycnodysostosis |
|
Delayed eruption of primary teeth, Persistence of primary teeth, Absent frontal sinuses, Carious ... |
OMIM:265800 |
Van Esch-O'Driscoll Syndrome |
|
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... |
OMIM:301030 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Hypoplasia of the maxilla, Lateral clavicle... |
OMIM:600920 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Aqueductal stenosis, Dextrotransposition of the great arteries, Atrial septal defec... |
OMIM:306955 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Patent ... |
OMIM:619149 |
Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Anophthalmia, Ventricular septal defect, Micrognathia, Pat... |
OMIM:601186 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Micrognathia, Broad nasal tip, Hypoplastic left atrium, ... |
OMIM:615524 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Cataract, Depressed nasal bridge, Anosmia, Short nose, Short nasal septum |
OMIM:302950 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Short nose, Juvenile cataract, Depressed nasal bridge |
ORPHA:438178 |
Cohen Syndrome |
|
Abnormal eyelid morphology, Micrognathia, Hypoplasia of the maxilla, Abnormality of skin pigmenta... |
ORPHA:193 |
Coffin-Lowry Syndrome |
|
Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Protruding ear, Pectus carinatu... |
ORPHA:192 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Abnormal anterio... |
ORPHA:93323 |
Dysostosis, Stanescu Type |
|
Narrow nasal bridge, Abnormal dental enamel morphology, Hypoplasia of the maxilla, Carious teeth,... |
ORPHA:1798 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta |
OMIM:604381 |
Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Hypoplasia of the maxilla, Patent ductus arteriosus, Up... |
ORPHA:2095 |
Split-Hand/Foot Malformation 3 |
|
Microretrognathia, Hypoplasia of the maxilla, Split hand, Cleft palate, High palate, Narrow mouth... |
OMIM:246560 |
Noonan Syndrome 8 |
|
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... |
OMIM:615355 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment |
ORPHA:85179 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Mandibular prognathia, Malar prominence, Large earlobe, Hypoplasia of the zygomatic bone, Macrotia |
ORPHA:2715 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:610738 |
Trisomy 12P |
|
Epicanthus, Micrognathia, Short neck, Wide nasal bridge, Aplasia/Hypoplasia of the iris, Abnormal... |
ORPHA:1699 |
Kahrizi Syndrome |
|
Bulbous nose, Cataract, Iris coloboma, Wide nasal bridge |
OMIM:612713 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Hurler Syndrome |
|
Short neck, Metaphyseal widening, Endocardial fibroelastosis, Retinal degeneration, Hypoplasia of... |
OMIM:607014 |
Cerebrooculonasal Syndrome |
|
Anophthalmia, Cerebellar vermis hypoplasia, Conductive hearing impairment, Iris coloboma, Dandy-W... |
OMIM:605627 |
Marshall Syndrome |
|
Anteverted nares, Depressed nasal bridge, Micrognathia, Hypoplasia of the maxilla, Sensorineural ... |
ORPHA:560 |
Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Micrognathia, Hand oligodactyly, Cleft... |
ORPHA:3104 |
Trisomy 1Q |
|
Omphalocele, Microretrognathia, Wide nose, Anophthalmia, Ventricular septal defect, Arachnodactyl... |
ORPHA:261344 |
Developmental And Epileptic Encephalopathy 73 |
|
Narrow nasal bridge, Short nose, Cataract |
OMIM:618379 |
16P13.11 Microduplication Syndrome |
|
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... |
ORPHA:261243 |
Alg3-Cdg |
|
Cerebral white matter atrophy, Cataract, Abnormal pinna morphology, Microcephaly, Abnormality of ... |
ORPHA:79321 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Anophthalmia, Anteverted nares, Prominent nasal bridge, Broad nasal tip, Hypoplasia ... |
ORPHA:411986 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Retinal detachment, Optic disc pallor, Cataract, Abnormality of retinal pigmentation, Chorioretin... |
OMIM:251270 |
Brachytelephalangy-Dysmorphism-Kallmann Syndrome |
|
Abnormal nostril morphology, Anosmia, Hypoplasia of the zygomatic bone, Short nose |
ORPHA:1295 |
Aortic Arch Interruption |
|
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... |
ORPHA:2299 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma |
OMIM:604219 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Abnormal hand morphology, Premature grayin... |
OMIM:300845 |
Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Epicanthus, Ulnar deviation of the hand, Abnormal pinna morphology, Sacr... |
OMIM:614175 |
Craniofacioskeletal Syndrome |
|
Micrognathia, Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Barrel-shaped che... |
OMIM:300712 |
Weill-Marchesani Syndrome 3 |
|
Shallow anterior chamber, Microspherophakia, Ectopia lentis |
OMIM:614819 |
Alagille Syndrome 2 |
|
Hypertension, Pulmonic stenosis, Atrial septal defect, Tetralogy of Fallot, Peripheral pulmonary ... |
OMIM:610205 |
Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Micrognathia, Aplasia/Hypoplasia of the dista... |
ORPHA:1234 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Cataract, Abnormally ossified vertebrae, Aplasia/Hypoplasia involving the ... |
ORPHA:3301 |
Phace Syndrome |
|
Cerebral arteriovenous malformation, Sclerocornea, Lens coloboma, Abnormal sternum morphology, Hy... |
ORPHA:42775 |
Isolated Arrhinia |
|
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... |
ORPHA:1134 |
Norrie Disease |
|
Sclerocornea, Venous insufficiency, Abnormal pupil morphology, Protruding ear, Hypoplasia of the ... |
ORPHA:649 |
Isolated Split Hand-Split Foot Malformation |
|
Finger syndactyly, Sensorineural hearing impairment, Split hand, Absent hand, Aniridia, Oligodactyly |
ORPHA:2440 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
11 pairs of ribs, Anophthalmia, Ventricular septal defect, Sclerocornea, Patent ductus arteriosus... |
ORPHA:77298 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Cataract, Retinal dystrophy, Sclerocornea, Proximal placement of... |
ORPHA:139471 |
Adams-Oliver Syndrome 4 |
|
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect |
OMIM:615297 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Short palm, Atrial septal defect, Clinodactyly of the 5th finger, Branchial fistula, Arachnodacty... |
ORPHA:261330 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Abnormal heart morphology, Aplasia/Hypoplasi... |
ORPHA:1067 |
Megalocornea-Intellectual Disability Syndrome |
|
Iridodonesis, Epicanthus, Micrognathia, Tapered finger, Kyphosis, Sensorineural hearing impairmen... |
ORPHA:2479 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Aniridia, Hearing abnormality, Abnormality of the pulmonary artery |
ORPHA:1065 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... |
OMIM:614292 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Depressed nasal bridge, Abnormal dental enamel morphology, Hydrocephalus, Hypoplasia of the zygom... |
ORPHA:1812 |
Insulin-Like Growth Factor I, Resistance To |
|
Micrognathia, Synophrys, Atrial septal defect, Patent foramen ovale, Highly arched eyebrow, Wide ... |
OMIM:270450 |
Retinitis Pigmentosa 84 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... |
OMIM:618220 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Mandibular prognathia, Microretrognathia, Hydrocephalus, Wide nasal bridge, Short columella, Hypo... |
OMIM:613603 |
Retinitis Pigmentosa 9 |
|
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... |
OMIM:180104 |
Weill-Marchesani Syndrome 2 |
|
Hypoplasia of the maxilla, Short metatarsal, Shallow orbits, Thickened helices, Broad ribs, Broad... |
OMIM:608328 |
Otodental Syndrome |
|
High-frequency sensorineural hearing impairment, Delayed eruption of teeth, Cataract, Anteverted ... |
ORPHA:2791 |
Middle Ear Neuroendocrine Tumor |
|
Abnormality of the tympanic membrane, Abnormality of the auditory canal, Sensorineural hearing im... |
ORPHA:100084 |
Sponastrime Dysplasia |
|
Mandibular prognathia, Obtuse angle of mandible, Aplasia of the nasal bone, Delayed epiphyseal os... |
ORPHA:93357 |
Neonatal Adrenoleukodystrophy |
|
Low-set, posteriorly rotated ears, Abnormality of retinal pigmentation, Cataract, Bilateral singl... |
ORPHA:44 |
Cardiac Diverticulum |
|
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... |
ORPHA:1686 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Metaphyseal dysplasia, Short middle phalanx of the 2nd finger, Hypoplasia of the maxilla, Flared ... |
OMIM:156510 |
Acro-Renal-Ocular Syndrome |
|
Optic disc hypoplasia, Microcornea, Coloboma, Vertebral segmentation defect, Chorioretinal colobo... |
ORPHA:959 |
Heart-Hand Syndrome Type 2 |
|
Aplasia/Hypoplasia of the thumb, Abnormal clavicle morphology, Abnormal morphology of ulna, Micro... |
ORPHA:1350 |
Momo Syndrome |
|
Delayed eruption of teeth, Epicanthus, Underfolded helix, Short neck, Dental malocclusion, Wide n... |
OMIM:157980 |
Ear-Patella-Short Stature Syndrome |
|
Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Aplastic clavicle, Mic... |
ORPHA:2554 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Micrognathia, Microcornea, Pachygyria, Low-set, posteriorly rotated... |
ORPHA:2510 |
Nivelon-Nivelon-Mabille Syndrome |
|
Short metacarpal, Cerebellar vermis hypoplasia, Distal clavicular thinning, Micromelia, Microceph... |
OMIM:600092 |
Robinow Syndrome |
|
Ventricular septal defect, Persistence of primary teeth, Marked delay in eruption of permanent te... |
ORPHA:97360 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Optic disc hypoplasia, Cervical kyphosis, Hypoplasia of the maxilla, Depressed nasal ridge, Atria... |
ORPHA:79345 |
Heterotaxy, Visceral, 4, Autosomal |
|
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... |
OMIM:613751 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Retinal telangiectasia, Hypoplasi... |
OMIM:620157 |
Cone-Rod Dystrophy 16 |
|
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... |
OMIM:614500 |
Metatropic Dysplasia |
|
Low-set, posteriorly rotated ears, Abnormal intervertebral disk morphology, Cataract, Camptodacty... |
ORPHA:2635 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Choreoathetosis, Conductive hearing impairment, Dystonia |
OMIM:618497 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Toriello-Carey Syndrome |
|
Micrognathia, Short neck, Partial agenesis of the corpus callosum, Anotia, Narrow chest, Thickene... |
ORPHA:3338 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Epicanthus, Sacral dimple, Micrognathia, Short neck, Underdeveloped nasal alae, Patent ductus art... |
ORPHA:1516 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... |
OMIM:108900 |
Symbrachydactyly Of Hands And Feet |
|
Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia... |
ORPHA:1570 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Depressed nasal ridge, Short nose, Anteverted nares |
ORPHA:1355 |
Split-Hand/Foot Malformation 2 |
|
Finger syndactyly, Short metacarpal, Split hand, Split foot, Short phalanx of finger |
OMIM:313350 |
Microtia, Hearing Impairment, And Cleft Palate |
|
Increased incisura length, Mixed hearing impairment, Overfolded helix, Microtia, Stenosis of the ... |
OMIM:612290 |
3C Syndrome |
|
Adrenal hypoplasia, Micrognathia, Short neck, Hemivertebrae, Abnormal tricuspid valve morphology,... |
ORPHA:7 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Diamond-Blackfan Anemia 11 |
|
Hypoplasia of the ulna, Absent thumb, Unilateral radial aplasia, Hypoplasia of the radius, Hand o... |
OMIM:614900 |
Galloway-Mowat Syndrome 1 |
|
Micrognathia, Prominent nose, Hypoplasia of the iris, Hypoplasia of the brainstem, Pachygyria, Hy... |
OMIM:251300 |
Vitreoretinal Degeneration, Snowflake Type |
|
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... |
OMIM:193230 |
Treacher Collins Syndrome 4 |
|
Micrognathia, Microcephaly, Lower eyelid coloboma, Choanal stenosis, Conductive hearing impairmen... |
OMIM:618939 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
|
Malar flattening, Truncus arteriosus, Highly arched eyebrow, Underdeveloped nasal alae |
OMIM:611867 |
D-Lactic Aciduria With Gout |
|
Aniridia, Inguinal hernia, Downslanted palpebral fissures, Microcephaly |
OMIM:245450 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... |
OMIM:200500 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ... |
OMIM:618914 |
Whim Syndrome 2 |
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Tetralogy of Fallot |
OMIM:619407 |
Aarskog-Scott Syndrome |
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Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... |
ORPHA:915 |
Encephalocraniocutaneous Lipomatosis |
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Craniofacial hyperostosis, Cerebral calcification, Abnormal nasolacrimal system morphology, Corne... |
ORPHA:2396 |
Spondylometaphyseal Dysplasia, Type A4 |
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Brachydactyly, Ovoid vertebral bodies, Dolichocephaly, Coxa valga, Enlargement of the costochondr... |
OMIM:609052 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
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Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of t... |
ORPHA:990 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Ocular anterior segment dysgene... |
OMIM:612582 |
Van Maldergem Syndrome 2 |
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Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C... |
OMIM:615546 |
Jackson-Weiss Syndrome |
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Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... |
ORPHA:1540 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Frontal bossing, Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Brachycepha... |
ORPHA:1236 |
Short Syndrome |
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Delayed eruption of teeth, Enlarged epiphyses, Telecanthus, Inguinal hernia, Prominent superficia... |
OMIM:269880 |
Acrocardiofacial Syndrome |
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Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ... |
ORPHA:2008 |
Recon Progeroid Syndrome |
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Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement of thumb, Thin ... |
OMIM:620370 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Short nose, Anteverted nares |
ORPHA:2015 |
Grange Syndrome |
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Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... |
ORPHA:79094 |
Aniridia And Absent Patella |
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Aniridia, Cataract, Aplasia/Hypoplasia of the patella |
OMIM:106220 |
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome |
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Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... |
OMIM:616108 |
Stickler Syndrome Type 2 |
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Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy |
ORPHA:90654 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
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Myelomeningocele, Inguinal hernia, Pulmonic stenosis, Facial telangiectasia |
OMIM:620141 |
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
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Abnormal dental enamel morphology, Micrognathia, Carious teeth, Wide nasal bridge, Protruding ear... |
ORPHA:3253 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Absent eyebrow, Abnormal clavicle morphology, Abnormal dental enamel morphology, Aplastic clavicl... |
ORPHA:85199 |
Intellectual Developmental Disorder, Autosomal Recessive 68 |
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Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear |
OMIM:618302 |
Oculoectodermal Syndrome |
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Giant cell granuloma of mandible, Atrial septal defect, Epicanthus, Transient ischemic attack, De... |
OMIM:600268 |
Fanconi Anemia, Complementation Group D2 |
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Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Patent ductus arteriosu... |
OMIM:227646 |
Prolidase Deficiency |
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Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg... |
ORPHA:742 |
Tibial Hemimelia |
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Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... |
ORPHA:93322 |
Meckel Syndrome, Type 11 |
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Polydactyly |
OMIM:615397 |
Fryns Syndrome |
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Low-set, posteriorly rotated ears, Omphalocele, Corneal opacity, Aganglionic megacolon, Anteverte... |
ORPHA:2059 |
Aorto-Ventricular Tunnel |
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Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... |
ORPHA:3400 |
Supernumerary Nostril |
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Abnormality of ethmoid sinus, Facial cleft |
ORPHA:141096 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
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Postaxial polydactyly |
OMIM:213010 |
Multiple Synostoses Syndrome 3 |
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Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
Laurin-Sandrow Syndrome |
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Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Fanconi Anemia, Complementation Group L |
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Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Short neck, Hydrocephalus, Wide na... |
OMIM:614083 |
Hypoplastic Left Heart Syndrome 1 |
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Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta |
OMIM:241550 |
Cardiofaciocutaneous Syndrome 3 |
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Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis |
OMIM:615279 |
Tetralogy Of Fallot |
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Tetralogy of Fallot |
OMIM:187500 |
Pfeiffer Syndrome |
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Mandibular prognathia, Hypoplasia of the zygomatic bone, Wide nasal bridge |
ORPHA:710 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... |
OMIM:613759 |
Encephalocraniocutaneous Lipomatosis |
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Atrial septal defect, Linear hyperpigmentation, Ventricular septal defect, Sclerocornea, Cortical... |
OMIM:613001 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
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Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... |
ORPHA:2476 |
Burn-Mckeown Syndrome |
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Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia |
ORPHA:1200 |
X-Linked Corneal Dermoid |
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Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Acrofrontofacionasal Dysostosis |
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Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hypopigmen... |
ORPHA:1784 |
Oculopharyngodistal Myopathy 3 |
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Tremor, Conductive hearing impairment, Sensorineural hearing impairment |
OMIM:619473 |
Acrocapitofemoral Dysplasia |
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Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
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