Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Deafness, Conductive Stapedial, With Ear Malformation And Facial Palsy |
|
Conductive hearing impairment, External ear malformation, Abnormality of the stapes |
OMIM:124490 |
Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
Polydactyly, Postaxial, Type A9 |
|
Postaxial hand polydactyly, Postaxial foot polydactyly |
OMIM:618219 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Polydactyly, Postaxial, Type A10 |
|
Postaxial hand polydactyly, Postaxial polydactyly type A, Postaxial foot polydactyly |
OMIM:618498 |
Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
Polydactyly, Preaxial I |
|
Partial duplication of thumb phalanx, Preaxial hand polydactyly, Radial deviation of thumb termin... |
OMIM:174400 |
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities |
|
Abnormality of the malleus, Abnormality of the middle ear ossicles, Abnormal pinna morphology, Co... |
OMIM:128980 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
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 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Deafness-Ear Malformation-Facial Palsy Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, External ear malformation, Hypoplas... |
ORPHA:3232 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Congenital sensorineural hearing impairment, Conductive hearing impairment, Dil... |
OMIM:304400 |
Polydactyly, Preaxial Ii |
|
Preaxial foot polydactyly, Syndactyly, Duplication of thumb phalanx, Postaxial hand polydactyly, ... |
OMIM:174500 |
Fallot Complex With Severe Mental And Growth Retardation |
|
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot |
OMIM:601127 |
Anterior Segment Dysgenesis 8 |
|
Microphakia, Ectopia pupillae, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the iris, Ca... |
OMIM:617319 |
Hallux Varus And Preaxial Polysyndactyly |
|
Broad hallux, Syndactyly, Hallux varus, Preaxial hand polydactyly |
OMIM:234280 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
Deafness, Conductive, With Malformed External Ear |
|
Conductive hearing impairment, Abnormal pinna morphology, Low-set ears, Abnormality of the middle... |
OMIM:221300 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Acrocephalopolysyndactyly Type Iv |
|
Joint contracture of the hand, Hand polydactyly, Syndactyly, Camptodactyly, Ulnar deviation of th... |
OMIM:201020 |
Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Polydactyly, Postaxial, Type A5 |
|
Postaxial hand polydactyly, Cutaneous finger syndactyly, Syndactyly, Metacarpal synostosis |
OMIM:263450 |
Ossicular Malformations, Familial |
|
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment |
OMIM:165680 |
Syndactyly Type 1 |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Toe syndactyly |
ORPHA:93402 |
Otosclerosis 7 |
|
Otosclerosis, Conductive hearing impairment, Progressive hearing impairment, Abnormality of the a... |
OMIM:611572 |
Atrial Septal Defect 2 |
|
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Mitral regurgitation, Ven... |
OMIM:607941 |
Preaxial Hallucal Polydactyly |
|
Preaxial foot polydactyly, Preaxial hand polydactyly |
OMIM:601759 |
Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
Brachydactyly, Type C |
|
Pseudoepiphysis of the 2nd finger, Triangular epiphysis of the middle phalanx of the 2nd finger, ... |
OMIM:113100 |
Deafness-Hypogonadism Syndrome |
|
Conductive hearing impairment, Stapes ankylosis, Abnormality of the middle ear ossicles, Abnormal... |
ORPHA:90646 |
Congenital Heart Defects, Multiple Types, 6 |
|
Double outlet right ventricle, Secundum atrial septal defect, Left ventricular outflow tract obst... |
OMIM:613854 |
Non-Syndromic Genetic Deafness |
|
Postlingual sensorineural hearing impairment, Conductive hearing impairment, High-frequency heari... |
ORPHA:87884 |
Cayler Cardiofacial Syndrome |
|
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot |
OMIM:125520 |
Mesoaxial Hexadactyly And Cardiac Malformation |
|
Pulmonic stenosis, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect |
OMIM:249670 |
Ventricular Septal Defect 1 |
|
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect |
OMIM:614429 |
Conductive Deafness-Malformed External Ear Syndrome |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Abnor... |
ORPHA:3216 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
Cranioacrofacial Syndrome |
|
Pulmonic stenosis, Ventricular septal defect |
OMIM:122850 |
Syndactyly-Polydactyly-Earlobe Syndrome |
|
Bifid distal phalanx of toe, 1-2 toe complete cutaneous syndactyly, Preaxial foot polydactyly, Br... |
OMIM:186350 |
Pulmonic Stenosis And Deafness |
|
Pulmonic stenosis, Ventricular hypertrophy |
OMIM:178651 |
Congenital Heart Defects, Multiple Types, 5 |
|
Double outlet right ventricle, Bicuspid aortic valve, Aortic valve stenosis, Atrial septal defect... |
OMIM:617912 |
Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Microphthalmia,... |
ORPHA:83461 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Ectrodactyly-Polydactyly Syndrome |
|
Ectrodactyly, Camptodactyly of finger, Brachydactyly, Symphalangism affecting the phalanges of th... |
ORPHA:1892 |
Ectrodactyly-Polydactyly |
|
Postaxial hand polydactyly, Split hand, Split foot |
OMIM:225290 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Hypoplasia of the ulna, Ventricular septal defect, Sandal... |
OMIM:607323 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Microphakia, Abnormality of retinal pigmentation, Lens subluxation, Retinal detachment, Cataract |
ORPHA:171844 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Supravalvular Aortic Stenosis |
|
Pulmonic stenosis, Peripheral arterial stenosis, Pulmonary artery stenosis, Supravalvular aortic ... |
OMIM:185500 |
Syndactyly, Type Iii |
|
Syndactyly, Short 5th finger, Absent middle phalanx of 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Congenital Heart Defects, Multiple Types, 4 |
|
Aortic valve stenosis, Hypoplastic left heart, Atrioventricular canal defect, Coarctation of aort... |
OMIM:615779 |
Microspherophakia With Hernia |
|
Microspherophakia, Superior lens subluxation, Retinal detachment |
OMIM:157150 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Microspherophakia, Megalocornea, Iridodonesis, Deep anterior chamber, Ectopia lentis |
OMIM:251750 |
Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Hypodontia, Small hand, Abnormality of the dentition, Overlapping... |
ORPHA:952 |
Congenital Heart Defects, Multiple Types, 7 |
|
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... |
OMIM:618780 |
Distal Monosomy 13Q |
|
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Holoprosencephaly, Abno... |
ORPHA:1590 |
Holoprosencephaly 13, X-Linked |
|
Double outlet right ventricle, Butterfly vertebrae, Alobar holoprosencephaly, Hypoplastic left he... |
OMIM:301043 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Vertebral segmentation defect, Holoprosencephaly, Hypoplasia of the radius, Aplasia of the nose, ... |
ORPHA:3186 |
Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Postaxial hand polydactyly, Brachydactyly, Short thumb, Short 2nd toe |
OMIM:176305 |
Stapes Ankylosis With Broad Thumbs And Toes |
|
Stapes ankylosis, Congenital stapes ankylosis, Conductive hearing impairment |
OMIM:184460 |
Symphalangism, Proximal, 1A |
|
Stapes ankylosis, Conductive hearing impairment |
OMIM:185800 |
Acrofacial Dysostosis 1, Nager Type |
|
Hydrocephalus, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Radioulnar synostosis, Bro... |
OMIM:154400 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Cataract 20, Multiple Types |
|
Membranous cataract, Cataract |
OMIM:116100 |
Steinfeld Syndrome |
|
Abnormal pinna morphology, Holoprosencephaly, Hypoplasia of the radius, Retinal coloboma, Aplasia... |
OMIM:184705 |
Duane Retraction Syndrome |
|
Hypoplasia of the radius, Short neck, Microcornea, Hypoplastic iris stroma, Abnormal pupil morpho... |
ORPHA:233 |
Trisomy 13 |
|
Abnormal antihelix morphology, Abnormal helix morphology, Optic atrophy, Ventricular septal defec... |
ORPHA:3378 |
Atresia Of External Auditory Canal And Conductive Deafness |
|
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... |
OMIM:108760 |
Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
Microspherophakia-Metaphyseal Dysplasia |
|
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma |
OMIM:157151 |
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis |
|
Pulmonic stenosis, Retinal arterial macroaneurysms |
OMIM:614224 |
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome |
|
Abnormal antihelix morphology, Conductive hearing impairment, Supernumerary tooth, Micrognathia, ... |
ORPHA:3145 |
Blomstrand Lethal Chondrodysplasia |
|
Depressed nasal bridge, Platyspondyly, Short nose, Abnormal epiphysis morphology, Cataract, Rhizo... |
ORPHA:50945 |
Diamond-Blackfan Anemia 16 |
|
Pulmonic stenosis, Atrial septal defect |
OMIM:617408 |
Congenital Alveolar Capillary Dysplasia |
|
Pulmonary valve atresia, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Hypo... |
ORPHA:210122 |
Otosclerosis 8 |
|
Otosclerosis, Hearing impairment |
OMIM:612096 |
Otosclerosis 3 |
|
Otosclerosis, Hearing impairment |
OMIM:608244 |
Split-Foot Malformation With Mesoaxial Polydactyly |
|
Mesoaxial hand polydactyly, Split foot, 4-5 toe syndactyly, Split hand, 1-2 toe syndactyly |
OMIM:616890 |
Genitopalatocardiac Syndrome |
|
Double outlet right ventricle, Ventricular septal defect, Right aortic arch, Transposition of the... |
OMIM:231060 |
Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Broad phalanx, Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect... |
ORPHA:508498 |
Fixed Subaortic Stenosis |
|
Angina pectoris, Abnormal cardiac septum morphology, Pulmonary venous hypertension, Atrioventricu... |
ORPHA:3092 |
Pelvis-Shoulder Dysplasia |
|
Hydrocephalus, Abnormal pinna morphology, Microcornea, Absent proximal finger flexion creases, Ta... |
ORPHA:2839 |
Familial Median Cleft Of The Upper And Lower Lips |
|
Cleft upper lip, Diastema, Fusion of gums, Irregular dentition, Abnormality of the maxilla, Media... |
ORPHA:401942 |
8P23.1 Duplication Syndrome |
|
Pulmonic stenosis, Ventricular septal defect, Tetralogy of Fallot |
ORPHA:251076 |
Otosclerosis 1 |
|
Otosclerosis, Conductive hearing impairment |
OMIM:166800 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal speech discrimination, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Absent thumb, Absent middle phalanx of 2nd finger, Proximal placement of hallux, Proximal placeme... |
OMIM:218530 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome |
|
Maxillozygomatic hypoplasia, Low-set, posteriorly rotated ears, Delayed eruption of teeth, Malar ... |
ORPHA:2972 |
Charge Syndrome |
|
Abnormal cardiac septum morphology, Overfolded helix, Depressed nasal bridge, Hemivertebrae, Dela... |
ORPHA:138 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Bartsocas-Papas Syndrome 1 |
|
Corneal ulceration, Ablepharon, Ankyloblepharon, Absent thumb, Short neck, Cicatricial lagophthal... |
OMIM:263650 |
Charge Syndrome |
|
Aplasia of the semicircular canal, Hemivertebrae, Down-sloping shoulders, Hypoplasia of the ulna,... |
OMIM:214800 |
Thrombocytopenia-Absent Radius Syndrome |
|
Absent thumb, Atrioventricular canal defect, Hypoplasia of the radius, Femoral bowing, Hypoplasia... |
OMIM:274000 |
Cofs Syndrome |
|
Sensorineural hearing impairment, Abnormality of retinal pigmentation, Microphthalmia, Cerebral c... |
ORPHA:1466 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Conductive hearing impairment, Aplasia/Hypoplasia of the thumb, Anterior vertebral fusion, Latera... |
OMIM:171480 |
Chime Syndrome |
|
Depressed nasal ridge, Ventricular septal defect, Abnormal epiphysis morphology, Abnormality of t... |
ORPHA:3474 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Abnormality of the vertebral column, Anophthalmia, Neural tube defect, Facial cle... |
OMIM:600776 |
Tricuspid Atresia |
|
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... |
ORPHA:1209 |
Oculoauricular Syndrome |
|
Microphakia, Microphthalmia, Rod-cone dystrophy, Retinal coloboma, Chorioretinal atrophy, Macular... |
OMIM:612109 |
Congenital Heart Defects, Multiple Types, 2 |
|
Bicuspid aortic valve, Aortic valve stenosis, Left ventricular outflow tract obstruction, Myxomat... |
OMIM:614980 |
Pupillary Membrane, Persistence Of |
|
Megalocornea, Developmental cataract, Persistent pupillary membrane |
OMIM:178900 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Coarctation of aorta, P... |
OMIM:618164 |
Oculomaxillofacial Dysostosis |
|
Cleft palate, Adducted thumb, Abnormality of the dentition, Micrognathia, Camptodactyly of finger... |
ORPHA:1794 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Narrow chest, Talipes equinovarus, Craniosynostosis, Short tibia, Micrognath... |
OMIM:251230 |
Deafness, Autosomal Dominant 23 |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:605192 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Pulmonic Stenosis |
|
Pulmonic stenosis |
OMIM:265500 |
Cardiac Valvular Dysplasia 2 |
|
Bicuspid aortic valve, Tricuspid regurgitation, Pulmonic stenosis, Pulmonary insufficiency, Palpi... |
OMIM:620067 |
Right Atrial Isomerism |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... |
OMIM:208530 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Partial Atrioventricular Septal Defect |
|
Angina pectoris, Anomalous pulmonary venous return, Atrial arrhythmia, Heart murmur, Transient is... |
ORPHA:1330 |
Pulmonary Atresia With Ventricular Septal Defect |
|
Ventricular septal defect, Pulmonary artery atresia |
OMIM:178370 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Abnormal cardiac septum morphology, Clinodactyly of the 5th finger, Ocular albinism, Microphthalm... |
ORPHA:1352 |
3Q29 Microduplication Syndrome |
|
Low-set ears, Camptodactyly of toe, Microcephaly, Short neck, Wide nasal bridge, Downslanted palp... |
ORPHA:251038 |
Deafness, Autosomal Recessive 9 |
|
Sensorineural hearing impairment, Absent brainstem auditory responses, Absence of acoustic reflex |
OMIM:601071 |
Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Brachydactyly, Broad palm, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Short foot, Short m... |
OMIM:611263 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Short femur, Holoprosencephaly, Scoliosis, Amelia, Anterior encephalocele, Coloboma, Facial cleft... |
OMIM:601357 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Clinodactyly of the 5th finger, Microphthalmia, Atrial septal defect, Upslanted palpebral fissure... |
OMIM:600123 |
Focal Dermal Hypoplasia |
|
Hydrocephalus, Hiatus hernia, Broad nasal tip, Cleft ala nasi, Congenital hip dislocation, Delaye... |
OMIM:305600 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Tricuspid valve prolapse, Abnormality of the ear, Pectus excavatum, Talipes equinovarus, Inguinal... |
ORPHA:1101 |
Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Deep palmar crease, Facial cleft, Cleft palate |
OMIM:600251 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Narrow chest, Hydrocephalus, Abnormal pinna morphology, Atrial septal defect, Short ribs, Postaxi... |
OMIM:616546 |
Bosma Arhinia Microphthalmia Syndrome |
|
Dental malocclusion, Abnormal pinna morphology, Conductive hearing impairment, Lacrimal duct atre... |
OMIM:603457 |
1Q21.1 Microdeletion Syndrome |
|
Abnormal cardiac septum morphology, Hydrocephalus, Bulbous nose, Cataract, Microphthalmia, Clinod... |
ORPHA:250989 |
Oculoauriculofrontonasal Syndrome |
|
Conductive hearing impairment, Microtia, Micrognathia, Microcephaly, Upper eyelid coloboma, Limba... |
ORPHA:398156 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Megalocornea |
|
Lens subluxation, Mosaic corneal dystrophy, Megalocornea, Retinal detachment, Astigmatism, Iridod... |
OMIM:309300 |
Heterotaxy, Visceral, 12, Autosomal |
|
Single coronary artery origin, Ventricular septal defect, Double outlet right ventricle, Left sup... |
OMIM:619702 |
Cat Eye Syndrome |
|
Tricuspid atresia, Atrial septal defect, Hypoplastic left heart, Stenosis of the external auditor... |
OMIM:115470 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, Narrow mouth, 2-3 toe syndactyly, Cleft palate, Micrognathia, Small thenar emine... |
OMIM:239800 |
Emanuel Syndrome |
|
Hydrocephalus, Congenital hip dislocation, Delayed eruption of teeth, Ventricular septal defect, ... |
ORPHA:96170 |
Anophthalmia Plus Syndrome |
|
Cleft palate, Deviation of finger, Bilateral cleft lip and palate, Facial cleft, Non-midline clef... |
ORPHA:1104 |
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia |
|
Ventricular septal defect, Hypoplastic right heart, Tetralogy of Fallot |
OMIM:601348 |
Neu-Laxova Syndrome 2 |
|
Ablepharon, Depressed nasal ridge, Micrognathia, Microcephaly, Short neck, Scoliosis, Cerebellar ... |
OMIM:616038 |
22Q11.2 Duplication Syndrome |
|
Hypoplastic left heart, Depressed nasal ridge, Micrognathia, Microcephaly, Scoliosis, Tetralogy o... |
ORPHA:1727 |
Nail-Patella Syndrome |
|
Pectus excavatum, Microcornea, Glenoid fossa hypoplasia, Hypoplastic radial head, Biceps aplasia,... |
OMIM:161200 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Corneal opacity, Microcornea, Peters anomaly, Cataract, Microphthalmia, Poste... |
OMIM:610256 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Sparse eyebrow, Depressed nasal bridge, Cupped ear, Absent lacrim... |
OMIM:167730 |
Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Easily subluxated first metacarpo... |
OMIM:311895 |
Thrombocytopenia-Absent Radius Syndrome |
|
Aplasia/Hypoplasia of the ulna, Sensorineural hearing impairment, Clinodactyly of the 5th finger,... |
ORPHA:3320 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Cleft palate, Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Still... |
ORPHA:294975 |
Neu-Laxova Syndrome 1 |
|
Ablepharon, Short neck, Micromelia, Small placenta, Ventricular septal defect, Cataract, Micropht... |
OMIM:256520 |
Holoprosencephaly |
|
Abnormal antihelix morphology, Hydrocephalus, Depressed nasal ridge, Depressed nasal tip, Short n... |
ORPHA:2162 |
Acrofacial Dysostosis, Cincinnati Type |
|
Flared lower limb metaphysis, Ablepharon, Microtia, Retrognathia, Micrognathia, Femoral bowing, A... |
OMIM:616462 |
Aminopterin/Methotrexate Embryofetopathy |
|
Hydrocephalus, Anencephaly, Aplasia/Hypoplasia of the cerebellum, Micromelia, Ventricular septal ... |
ORPHA:1908 |
Congenital Rubella Syndrome |
|
Sensorineural hearing impairment, Corneal opacity, Abnormality of retinal pigmentation, Atrial se... |
ORPHA:290 |
Jacobsen Syndrome |
|
Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Short neck, Microcornea, Optic atrophy, ... |
OMIM:147791 |
Otosclerosis 4 |
|
Otosclerosis, Mixed hearing impairment |
OMIM:611571 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3 |
|
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... |
OMIM:618845 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Brachyturricephaly, Ethmoidal encep... |
OMIM:607597 |
Acrofacial Dysostosis, Catania Type |
|
Tooth agenesis, Microretrognathia, Clinodactyly of the 5th finger, Finger syndactyly, Small hand,... |
ORPHA:1786 |
Heterotaxy, Visceral, 6, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... |
OMIM:614779 |
Conotruncal Heart Malformations |
|
Double outlet right ventricle, Coarctation of aorta, Complete atrioventricular canal defect, Tran... |
OMIM:217095 |
Spondylo-Ocular Syndrome |
|
Abnormal antihelix morphology, Abnormal eyebrow morphology, Abnormal intervertebral disk morpholo... |
ORPHA:85194 |
Holt-Oram Syndrome |
|
Pectus excavatum, Absent thumb, Hypoplasia of the radius, Finger clinodactyly, Hypoplasia of the ... |
OMIM:142900 |
Criss-Cross Heart |
|
Mitral stenosis, Abnormal mitral valve morphology, Pulmonic stenosis, Tricuspid stenosis, Ventric... |
ORPHA:1461 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Vertebral segmentation defect, Micrognathia, Macrotia, Anophthalmia, Microphthalmia, Supernumerar... |
OMIM:221950 |
Autosomal Dominant Keratitis |
|
Keratitis, Hypoplastic iris stroma, Corneal neovascularization, Opacification of the corneal stro... |
ORPHA:2334 |
Fraser Syndrome 1 |
|
Hydrocephalus, Abnormal pinna morphology, Depressed nasal bridge, Cleft ala nasi, Abnormality of ... |
OMIM:219000 |
Coats Disease |
|
Abnormal retinal vascular morphology, Abnormal anterior chamber morphology, Abnormal macular morp... |
ORPHA:190 |
Trisomy 18 |
|
Anencephaly, Microcornea, Abnormality of the upper limb, Ventricular septal defect, Short nose, C... |
ORPHA:3380 |
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins |
|
Atrioventricular canal defect, Ventricular septal defect, Omphalocele, Pulmonary valve atresia, P... |
OMIM:265380 |
Nephronophthisis 16 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Patent ductus arteriosus, Hyper... |
OMIM:615382 |
Emanuel Syndrome |
|
Congenital hip dislocation, Hypoplasia of the corpus callosum, Ventricular septal defect, Abnorma... |
OMIM:609029 |
Aniridia 2 |
|
Lens subluxation, Optic atrophy, Iris coloboma, Cataract, Aniridia |
OMIM:617141 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Retinal detachment, Microcornea, Cortical pulverulent cataract, Iris coloboma,... |
OMIM:610202 |
Familial Osteodysplasia, Anderson Type |
|
Bulbous nose, Depressed nasal ridge, Long nose, Carious teeth, Mandibular prognathia, Elbow dislo... |
ORPHA:2769 |
Ritscher-Schinzel Syndrome 1 |
|
Double outlet right ventricle, Hydrocephalus, Atrial septal defect, Decreased response to growth ... |
OMIM:220210 |
Frontonasal Dysplasia 1 |
|
Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Cataract, Microphthalmia, T... |
OMIM:136760 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Iris coloboma, Microphthalmia, Microcoria, Chorioretinal coloboma |
OMIM:616428 |
Fanconi Anemia, Complementation Group B |
|
Hydrocephalus, Absent thumb, Overfolded helix, Hypergonadotropic hypogonadism, Short neck, Coarct... |
OMIM:300514 |
Multiple Synostoses Syndrome |
|
Conductive hearing impairment |
ORPHA:3237 |
Craniotelencephalic Dysplasia |
|
Hydrocephalus, Microcephaly, Arrhinencephaly, Low-set, posteriorly rotated ears, Cerebellar hypop... |
ORPHA:1528 |
Heterotaxy, Visceral, 8, Autosomal |
|
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... |
OMIM:617205 |
Chronic Atrial And Intestinal Dysrhythmia |
|
Bicuspid aortic valve, Pulmonic stenosis, Mitral regurgitation, Sick sinus syndrome, Atrial flutt... |
OMIM:616201 |
22Q11.2 Deletion Syndrome |
|
Tricuspid atresia, Hydrocephalus, Bulbous nose, Overfolded helix, Short neck, Carious teeth, Opti... |
ORPHA:567 |
Heart And Brain Malformation Syndrome |
|
Wide anterior fontanel, Cerebral atrophy, Dandy-Walker malformation, Attached earlobe, Hand clenc... |
OMIM:616920 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Radial bowing, Lunate-triquetral fusion, Absent fifth metatarsal, ... |
OMIM:176240 |
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly |
|
Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, 2-3 toe syndactyly, Talipes equi... |
OMIM:236500 |
Yunis-Varon Syndrome |
|
Absent thumb, Sparse eyebrow, Cutaneous syndactyly, Congenital hip dislocation, Down-sloping shou... |
OMIM:216340 |
Florid Cemento-Osseous Dysplasia |
|
Dental malocclusion, Abnormal number of teeth, Mandibular osteomyelitis, Abnormal cementum morpho... |
ORPHA:83451 |
Microphthalmia With Limb Anomalies |
|
Hydrocephalus, Depressed nasal bridge, True anophthalmia, Abnormality of the upper limb, Optic at... |
ORPHA:1106 |
Frontofacionasal Dysplasia |
|
Depressed nasal ridge, Depressed nasal bridge, Microcornea, Hypoplasia of the corpus callosum, Sh... |
ORPHA:1791 |
Ectopia Lentis Et Pupillae |
|
Retinal detachment, Cataract, Ectopia lentis, Persistent pupillary membrane |
OMIM:225200 |
Postaxial Tetramelic Oligodactyly |
|
Abnormal metacarpal morphology, Abnormality of finger, Oligodactyly, Ectrodactyly |
ORPHA:2730 |
Microgastria-Limb Reduction Defect Syndrome |
|
Hiatus hernia, Abnormality of the humerus, Microphthalmia, Elbow dislocation, Abnormality of fing... |
ORPHA:2538 |
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy |
|
Pulmonic stenosis, Ventricular septal defect, Atrial septal defect |
OMIM:614262 |
Kniest Dysplasia |
|
Flexion contracture of finger, Depressed nasal bridge, Short neck, Platyspondyly, Cataract, Dumbb... |
ORPHA:485 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Conductive hearing impairment, Pulsatile tinnitus, Cranial nerve compression, Hypertensive retino... |
ORPHA:29072 |
Walker-Warburg Syndrome |
|
Hydrocephalus, Microcornea, Retinal dystrophy, Polymicrogyria, Optic atrophy, Cataract, Microphth... |
ORPHA:899 |
Proboscis Lateralis |
|
Abnormal morphology of bony orbit of skull, Abnormal location of the eyebrow, Microcornea, Optic ... |
ORPHA:141099 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Elbow ankylosis, Symphalangism affecting the phalanges of the hand, Hypogonadism, ... |
ORPHA:2658 |
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions |
|
Pulmonic stenosis, Abnormal heart valve morphology |
OMIM:126190 |
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome |
|
Short distal phalanx of finger, Micrognathia, Microcephaly, Short neck, Bilateral single transver... |
ORPHA:2516 |
Cleidocranial Dysplasia 1 |
|
Cone-shaped epiphyses of the phalanges of the hand, Depressed nasal bridge, Absent frontal sinuse... |
OMIM:119600 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Pulmonic stenosis, Atrial septal defect, Coarctation of aorta |
OMIM:614300 |
Cousin Syndrome |
|
Hydrocephalus, Microtia, first degree, Microcornea, Rhizomelia, Microphthalmia, Absent proximal f... |
OMIM:260660 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Hydrocephalus, Opacification of the corneal stroma, Anencephaly, Cortical dysplasia, Optic nerve ... |
OMIM:615287 |
Malan Syndrome |
|
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... |
OMIM:614753 |
Triphalangeal Thumbs With Brachyectrodactyly |
|
Short 2nd finger, Split foot, Brachydactyly, Triphalangeal thumb, Short 3rd toe, Split hand |
OMIM:190680 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Slender long bones with narrow diaphyses, Depressed nasal bridge, Megalocornea, Platyspondyly, Ab... |
ORPHA:536471 |
Acrocapitofemoral Dysplasia |
|
Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C... |
OMIM:607778 |
Cardiomyopathy, Familial Restrictive, 6 |
|
Pulmonic stenosis, Pulmonary insufficiency, Restrictive cardiomyopathy, Tricuspid regurgitation |
OMIM:619433 |
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Corneal opacity, Micrognathia, Depressed nasal bridge, Communicating hydrocephalus, Telecanthus, ... |
ORPHA:1064 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Cataract, Aplasia/Hypoplasia of the lens |
ORPHA:1381 |
Autosomal Dominant Coarctation Of Aorta |
|
Hypoplastic left heart, Ventricular septal defect, Aortic arch aneurysm, Abnormal aortic arch mor... |
ORPHA:1455 |
Retinitis Pigmentosa 84 |
|
Macular coloboma, Cataract, Rod-cone dystrophy, Macular atrophy |
OMIM:618220 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Conductive hearing impairment |
ORPHA:2669 |
Aniridia 1 |
|
Ptosis, Corneal neovascularization, Optic nerve hypoplasia, Ectopia pupillae, Opacification of th... |
OMIM:106210 |
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Triphalangeal thumb, Preaxial foot polydactyly |
ORPHA:2091 |
Donnai-Barrow Syndrome |
|
Short sternum, Broad nasal tip, Depressed nasal bridge, Retinal dystrophy, Downslanted palpebral ... |
OMIM:222448 |
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome |
|
Malar flattening, Hypoplasia of the zygomatic bone |
ORPHA:2835 |
Gillespie Syndrome |
|
Cerebellar hypoplasia, Hypoplasia of the iris, Thin corpus callosum, Aniridia, Truncus arteriosus |
OMIM:206700 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Distally placed thumb, Cutaneous syndactyly, Anencephaly, Delayed eruption of teeth, Advanced eru... |
OMIM:619148 |
Velocardiofacial Syndrome |
|
Hypoparathyroidism, Abnormality of the ear, Bulbous nose, Inguinal hernia, Retrognathia, Abnormal... |
OMIM:192430 |
Microphthalmia, Syndromic 2 |
|
Contracture of the proximal interphalangeal joint of the 3rd toe, Broad nasal tip, Delayed erupti... |
OMIM:300166 |
Focal Dermal Hypoplasia |
|
Abnormal cardiac septum morphology, Ventricular septal defect, Hypoplastic pelvis, Abnormal epiph... |
ORPHA:2092 |
Aniridia-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Cataract, Ectopia lentis, Aniridia |
ORPHA:1068 |
Megabladder, Congenital |
|
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Atrial septal defect, Ventr... |
OMIM:618719 |
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, Bilateral triphalangeal thumbs |
OMIM:138790 |
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma |
|
Retinal coloboma, Coarctation of aorta, Macular coloboma, Facial palsy, Interrupted aortic arch |
OMIM:107550 |
Isobutyryl-Coa Dehydrogenase Deficiency |
|
Pulmonic stenosis, Dilated cardiomyopathy |
ORPHA:79159 |
Multiple Synostoses Syndrome 1 |
|
Pectus excavatum, Short sternum, Hypoplastic nasal septum, Clinodactyly of the 4th toe, Bilateral... |
OMIM:186500 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Pulmonic stenosis, Mitral valve prolapse, Abnormal heart valve morphology |
ORPHA:2868 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia, Retinal detachment, Retinal dystrophy, Iris coloboma, Cataract, Macular atrophy, ... |
OMIM:212550 |
Teeth, Noneruption Of, With Maxillary Hypoplasia And Genu Valgum |
|
Eruption failure, Maxillozygomatic hypoplasia, Delayed eruption of primary teeth, Multiple non-er... |
OMIM:273050 |
Treacher Collins Syndrome 3 |
|
Conductive hearing impairment, Malar flattening, Microtia, Micrognathia, Coloboma, Downslanted pa... |
OMIM:248390 |
Cortical Blindness, Retardation, And Postaxial Polydactyly |
|
Short nose |
OMIM:218010 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Atresia of the external auditory canal, Conductive hearing impairment, Chronic otitis media |
OMIM:221320 |
Intellectual Disability-Short Stature-Hypertelorism Syndrome |
|
Hypoplasia of the zygomatic bone |
ORPHA:3074 |
Triopia |
|
Abnormal pupil morphology, Dolichocephaly, Microcornea, Midline facial cleft, Frontal bossing, Ir... |
ORPHA:3374 |
Kahrizi Syndrome |
|
Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge |
OMIM:612713 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, Mental Retardation, And Obesity Syndrome |
|
Corneal opacity, Malar flattening, Micrognathia, Downslanted palpebral fissures, Cataract, Mandib... |
OMIM:612469 |
Pierre Robin Syndrome And Oligodactyly |
|
Hand oligodactyly, Pierre-Robin sequence, Micrognathia, Cleft palate |
OMIM:172880 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Hydrocephalus, Corneal opacity, Calvarial skull defect, Congenita... |
ORPHA:1647 |
Baller-Gerold Syndrome |
|
Hydrocephalus, Hypoplasia of the radius, Polymicrogyria, Optic atrophy, Hypoplasia of the ulna, D... |
OMIM:218600 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Protruding ear, Hypoplasia of the zygomatic bone, Umbilical hernia, Mandibular prognathia, Low-se... |
ORPHA:1778 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Abnormal mitral valve morphology, Anomalous pulmonary venous return, Abnormal coronary artery mor... |
ORPHA:860 |
Chromosome Xq21 Deletion Syndrome |
|
Conductive hearing impairment, Incomplete partition of the cochlea, Hearing impairment, Progressi... |
OMIM:303110 |
Aortic Valve Disease 1 |
|
Double outlet right ventricle, Mitral stenosis, Bicuspid aortic valve, Aortic valve stenosis, Mit... |
OMIM:109730 |
Auriculocondylar Syndrome 3 |
|
Stenosis of the external auditory canal, Bilateral conductive hearing impairment, Question mark ear |
OMIM:615706 |
X-Linked Mandibulofacial Dysostosis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Protruding ear, Micrognathia, Lo... |
ORPHA:1131 |
Jacobsen Syndrome |
|
Short neck, Microcornea, Downslanted palpebral fissures, Ventricular septal defect, Short nose, C... |
ORPHA:2308 |
Wagner Vitreoretinopathy |
|
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... |
OMIM:143200 |
Mycophenolate Mofetil Embryopathy |
|
Hydrocephalus, Microtia, Micrognathia, Anotia, Bifid nose, Coarctation of aorta, Agenesis of corp... |
ORPHA:268249 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Lumbar hyperlordosis, Back pain, Hypoplastic ili... |
OMIM:169550 |
Dislocation Of The Hip-Dysmorphism Syndrome |
|
Narrow mouth, Malar flattening, Prominence of the premaxilla, Congenital hip dislocation, Deviati... |
ORPHA:2412 |
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
ORPHA:228190 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Sparse eyebrow, Finger clinodactyly, Cranium bifidum occultum, Hypoplasia of the maxilla, Catarac... |
ORPHA:306542 |
Ciliary Dyskinesia, Primary, 39 |
|
Double outlet right ventricle, Dextrocardia |
OMIM:618254 |
Iris Pigment Layer, Cleavage Of |
|
Peripheral retinal detachment, Cataract |
OMIM:147610 |
Truncus Arteriosus |
|
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, Ca... |
ORPHA:3384 |
Phaver Syndrome |
|
Overfolded helix, Depressed nasal bridge, Radioulnar synostosis, Ulnar deviation of finger, Downs... |
ORPHA:2876 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Abnormal pinna morphology, Micrognathia, Syndactyly, Neonatal death, Hypoplasia of the ulna, Vent... |
OMIM:228940 |
Rhiny |
|
Anteverted nares, Short nose |
OMIM:180360 |
Distal Monosomy 19P13.3 |
|
Tricuspid valve prolapse, Ventricular septal defect, Pulmonary valve atresia, Umbilical hernia |
ORPHA:96129 |
Deafness, Congenital Heart Defects, And Posterior Embryotoxon |
|
Ventricular septal defect, Peripheral pulmonary artery stenosis, Tetralogy of Fallot |
OMIM:617992 |
Split-Hand/Foot Malformation 4 |
|
Ectrodactyly, Aplasia/Hypoplasia of the phalanges of the toes, Split foot, Syndactyly, Triphalang... |
OMIM:605289 |
Cerebrooculonasal Syndrome |
|
High palate, U-Shaped upper lip vermilion, Long philtrum, Microdontia, Postaxial hand polydactyly... |
ORPHA:66625 |
Craniodiaphyseal Dysplasia |
|
Stenosis of the external auditory canal, Conductive hearing impairment |
ORPHA:1513 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Corneal opacity, Optic nerve hypoplasia, Peripheral vitreous opacities, Pseudopapilledema, Unilat... |
ORPHA:137902 |
Corneal Dystrophy, Groenouw Type I |
|
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy |
OMIM:121900 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb |
|
Bulbous nose, Bicuspid aortic valve, Microcephaly, Coarctation of aorta, Broad hallux, Broad thum... |
OMIM:612474 |
Aorta Coarctation |
|
Bicuspid aortic valve, Stroke, Hypoplastic left heart, Aortic valve atresia, Coarctation of the d... |
ORPHA:1457 |
Recombinant Chromosome 8 Syndrome |
|
Double outlet right ventricle, Clinodactyly of the 5th finger, Atrial septal defect, Cerebral atr... |
OMIM:179613 |
Noonan Syndrome 9 |
|
Pulmonic stenosis, Ventricular septal defect, Coarctation of aorta |
OMIM:616559 |
Fanconi Anemia |
|
Abnormality of femur morphology, Hydrocephalus, Arteriovenous malformation, Abnormal cardiac sept... |
ORPHA:84 |
Double Outlet Right Ventricle |
|
Double outlet right ventricle, Hypoplastic left heart, Pulmonic stenosis, Tachycardia, Coarctatio... |
ORPHA:3426 |
Congenital Gerbode Defect |
|
Bacterial endocarditis, Elevated right atrial pressure, Right atrial enlargement, Tricuspid regur... |
ORPHA:99095 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Pectus excavatum, Malar flattening, Palmoplantar cutis laxa, Microcephaly, Spina bifida occulta, ... |
OMIM:268850 |
14Q24.1Q24.3 Microdeletion Syndrome |
|
Dislocated radial head, Atrial septal defect, Brachydactyly, Wide nasal bridge, Pulmonary artery ... |
ORPHA:401935 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Hypoplasia of the corpus callosum, Downslanted palpebral fissures, Ventricular septal defect, Roc... |
OMIM:301056 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Clinodactyly of the 5th finger, Scoliosis, Pectus carinatum, Radioulnar synostosis, Abnormal rib ... |
ORPHA:3268 |
Mohr Syndrome |
|
High palate, Hydrocephalus, Cleft palate, Lobulated tongue, Tongue nodules, Hypoplasia of the max... |
OMIM:252100 |
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities |
|
Pulmonic stenosis, Abnormal EKG, Secundum atrial septal defect |
OMIM:178650 |
Nager Syndrome |
|
Microtia, Micrognathia, Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Atre... |
ORPHA:245 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Encephalocele, Short neck, Anophthalmia, Polydactyly, Postaxial hand polydac... |
OMIM:613885 |
Atrioventricular Septal Defect, Susceptibility To, 2 |
|
Dextrocardia, Atrioventricular canal defect, Right aortic arch with mirror image branching, Pulmo... |
OMIM:606217 |
Weill-Marchesani Syndrome |
|
Pulmonic stenosis, Mitral regurgitation, Ventricular septal defect, Aortic valve stenosis |
ORPHA:3449 |
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome |
|
Enlarged thorax, Cerebral cortical atrophy, Adducted thumb, Holoprosencephaly, Micrognathia, Camp... |
ORPHA:2570 |
Marfanoid Habitus With Situs Inversus |
|
Pulmonic stenosis, Situs inversus totalis, Mitral valve prolapse, Aortic regurgitation, Aortic ro... |
OMIM:609008 |
Congenitally Corrected Transposition Of The Great Arteries |
|
Mobitz I atrioventricular block, Heart murmur, Ventricular septal defect, Sick sinus syndrome, Ab... |
ORPHA:216694 |
Exudative Vitreoretinopathy 6 |
|
Exudative vitreoretinopathy, Posterior vitreous detachment, Chorioretinal atrophy, Retinal detach... |
OMIM:616468 |
Intellectual Disability-Cataracts-Kyphosis Syndrome |
|
Iris coloboma, Bulbous nose, Cataract, Wide nasal bridge |
ORPHA:171860 |
Birdshot Chorioretinopathy |
|
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... |
ORPHA:179 |
Burn-Mckeown Syndrome |
|
Conductive hearing impairment, Protruding ear, 2-3 toe syndactyly, Atrial septal defect, Short pa... |
OMIM:608572 |
Short-Rib Thoracic Dysplasia 12 |
|
Abnormal pinna morphology, Hydrocephalus, Short neck, Anencephaly, Ventricular septal defect, Omp... |
OMIM:269860 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Hydrocephalus, Absent extraocular muscles, Malar flattening, Ab... |
OMIM:109120 |
Carpenter Syndrome 1 |
|
Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, Depressed nasa... |
OMIM:201000 |
Ventricular Septal Defect 3 |
|
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal defect |
OMIM:614432 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Abnormal calcium-phosphate regulating hormone level, Bulbous nose, Abnormally ossified vertebrae,... |
ORPHA:2636 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Hemivertebrae, Pectus carinatum, Radioulnar synostosis, Single transverse palmar crease, Short no... |
OMIM:614701 |
Ablepharon Macrostomia Syndrome |
|
Corneal opacity, Ablepharon, Cryptophthalmos, Absent eyebrow, Microtia, Depressed nasal bridge, C... |
ORPHA:920 |
Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Double outlet right ventricle, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallot, Pate... |
ORPHA:3304 |
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy |
|
Double outlet right ventricle, Anomalous pulmonary venous return, Atrial septal defect, Thoracic ... |
OMIM:619657 |
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness |
|
Pulmonic stenosis |
OMIM:264140 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Premature thelarche, Abnormal hand morphology, Ventricular septal defect, Type I diabetes mellitu... |
ORPHA:371428 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Hypoplastic left heart, Mitral regurgitation, Sudd... |
OMIM:604169 |
Brachydactyly-Syndactyly Syndrome |
|
Short digit, Brachydactyly, Syndactyly, Short phalanx of finger, Camptodactyly, Oligodactyly, Fin... |
OMIM:610713 |
Wagr Syndrome |
|
Micrognathia, Microcephaly, Scoliosis, Hearing abnormality, Cataract, Aplasia/Hypoplasia of the i... |
ORPHA:893 |
Liberfarb Syndrome |
|
Sensorineural hearing impairment, Delayed epiphyseal ossification, Retinal degeneration, Retinal ... |
OMIM:618889 |
Aniridia-Absent Patella Syndrome |
|
Inguinal hernia, Aplasia/Hypoplasia of the patella, Cataract, Aniridia, Ptosis |
ORPHA:1069 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Precocious puberty, Cryptophthalmos, Ectopia pupillae, Anophthalmia, Microcor... |
OMIM:615877 |
3P25.3 Microdeletion Syndrome |
|
Depressed nasal bridge, 2-3 finger syndactyly, Tapered finger, Broad hallux, Downslanted palpebra... |
ORPHA:435638 |
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Low-set, posteriorly rotated ears, Hypoplasia of the zygomatic bone, Carious teeth, Macrotia, Man... |
ORPHA:1110 |
Distal 17P13.1 Microdeletion Syndrome |
|
Retrognathia, Protruding ear, Hypoplasia of the zygomatic bone |
ORPHA:319171 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Pectus excavatum, Slanting of the palpebral fissure, Tapered finger, Short nose, Primary microcep... |
ORPHA:476126 |
Sifrim-Hitz-Weiss Syndrome |
|
Short clavicles, Atrial septal defect, Short palpebral fissure, Upslanted palpebral fissure, Hypo... |
OMIM:617159 |
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs |
|
Short distal phalanx of finger, Microcephaly, Ventricular septal defect, Hydranencephaly, Underde... |
OMIM:601355 |
Flat Face-Microstomia-Ear Anomaly Syndrome |
|
Abnormal antihelix morphology, Malar flattening, Micrognathia, Low-set, posteriorly rotated ears,... |
ORPHA:1968 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Orbital cyst, Cleft ala nasi, Congenital hip di... |
OMIM:164180 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Pectus excavatum, Overfolded helix, Hypoplasia of the radius, Short neck, Hypoplasia of the ulna,... |
OMIM:609945 |
49,Xxxxy Syndrome |
|
Depressed nasal ridge, Depressed nasal bridge, Down-sloping shoulders, Short neck, Delayed erupti... |
ORPHA:96264 |
Aural Atresia, Congenital |
|
Atresia of the external auditory canal, Conductive hearing impairment |
OMIM:607842 |
Heart Defects-Limb Shortening Syndrome |
|
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormality of... |
ORPHA:1354 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of retinal pigmentation, Abnormal retinal vascular mo... |
ORPHA:1390 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Iris coloboma, Bilateral microphthalmos, Microphthalmia, Chorior... |
OMIM:611638 |
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion |
|
Bicuspid aortic valve, Pulmonic stenosis, Coarctation of aorta, Ventricular septal defect, Patent... |
ORPHA:284169 |
Stankiewicz-Isidor Syndrome |
|
2-3 toe syndactyly, Absent thumb, Retrognathia, Micrognathia, Truncus arteriosus, Hearing impairm... |
OMIM:617516 |
Crane-Heise Syndrome |
|
Short distal phalanx of finger, Talipes equinovarus, Abnormally ossified vertebrae, Micrognathia,... |
ORPHA:1512 |
Occipital Horn Syndrome |
|
Pectus excavatum, Hiatus hernia, Cerebral calcification, Abnormality of the pubic bone, Humerus v... |
ORPHA:198 |
Treacher-Collins Syndrome |
|
High palate, Wide mouth, Cleft palate, Tracheoesophageal fistula, Abnormality of the dentition, B... |
ORPHA:861 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Narrow chest, Abnormal clavicle morphology, Microphthalmia, Micrognathia, Short neck, Platyspondy... |
ORPHA:93267 |
Mosaic Trisomy 9 |
|
Hemivertebrae, Short neck, Finger clinodactyly, Micromelia, Facial cleft, Microphthalmia, Rocker ... |
ORPHA:99776 |
Meckel Syndrome |
|
Hydrocephalus, Depressed nasal ridge, Anencephaly, Microcornea, Optic atrophy, Cataract, Bowing o... |
ORPHA:564 |
Ulnar Hemimelia |
|
Aplasia/Hypoplasia of the ulna, Upper limb phocomelia, Radial club hand, Glenoid fossa hypoplasia... |
ORPHA:93320 |
Melanocytic Nevus Syndrome, Congenital |
|
Prominence of the premaxilla, Everted lower lip vermilion, Long philtrum, Deep philtrum, Open mouth |
OMIM:137550 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Proximal symphalangism of hands, Proximal radio-ulnar synostosis, Abnormality of the dentition, A... |
ORPHA:363417 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Cerebellar hypoplasia, Agenesis o... |
OMIM:218670 |
Toluene Embryopathy |
|
Micrognathia, Low-set ears, Protruding ear, Hypoplasia of the zygomatic bone |
ORPHA:1920 |
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies |
|
Double outlet right ventricle, Overlapping toe, Atrial septal defect, Depressed nasal bridge, Cut... |
OMIM:618316 |
Retinitis Pigmentosa 40 |
|
Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blood vessels, Rod-cone... |
OMIM:613801 |
Microphthalmia, Syndromic 3 |
|
Hemivertebrae, Hypoplasia of the corpus callosum, Ventricular septal defect, Cataract, Microphtha... |
OMIM:206900 |
Scimitar Syndrome |
|
Tricuspid atresia, Anomalous pulmonary venous return, Ventricular septal defect, Descending aorta... |
ORPHA:185 |
Microtia With Meatal Atresia And Conductive Deafness |
|
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Microtia |
OMIM:251800 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Abnormal pinna morphology, Slender long bones with narrow diaphyses, Absent thumb,... |
ORPHA:3472 |
Chondrodysplasia Punctata 1, X-Linked Recessive |
|
Depressed nasal bridge, Short nose, Cataract, Short nasal septum, Anosmia |
OMIM:302950 |
Polyvalvular Heart Disease Syndrome |
|
Aortic valve stenosis, Tricuspid regurgitation, Pulmonic stenosis, Arrhythmia, Mitral valve prola... |
ORPHA:228410 |
Diprosopus |
|
Abnormal cardiac septum morphology, Abnormality of retinal pigmentation, External ear malformatio... |
ORPHA:1681 |
Noonan Syndrome 11 |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy, Atrial septal defect |
OMIM:618499 |
Isolated Aniridia |
|
Peters anomaly, Cataract, Aplasia/Hypoplasia of the macula, Aniridia |
ORPHA:250923 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Iris coloboma, Cataract, Microphthalmia |
OMIM:610092 |
Mesomelic Limb Shortening And Bowing |
|
Bowing of the legs, Mesomelic leg shortening, Cleft palate, Retrognathia, Micrognathia, Camptodac... |
OMIM:249710 |
Pycnodysostosis |
|
Persistence of primary teeth, Spondylolisthesis, Spondylolysis, Micrognathia, Narrow iliac wing, ... |
OMIM:265800 |
Momo Syndrome |
|
Dental malocclusion, Taurodontia, Short sternum, Femoral bowing, Short neck, Delayed eruption of ... |
ORPHA:2563 |
Coffin-Lowry Syndrome |
|
Abnormal mitral valve morphology, Pectus excavatum, Depressed nasal bridge, Broad finger, Delayed... |
ORPHA:192 |
Cataract-Microcornea Syndrome |
|
Corneal opacity, Microcornea, Iris coloboma, Cataract, Corneal dystrophy |
ORPHA:1377 |
Rhizomelic Syndrome |
|
Pulmonic stenosis |
OMIM:268250 |
Sarcosinemia |
|
Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:3129 |
Van Den Ende-Gupta Syndrome |
|
Pectus excavatum, Overfolded helix, Femoral bowing, Depressed nasal bridge, Tapered finger, Gleno... |
OMIM:600920 |
Cleidocranial Dysplasia |
|
Sinusitis, Supernumerary tooth, Micrognathia, Delayed eruption of teeth, Spina bifida occulta, Ca... |
ORPHA:1452 |
Split-Hand/Foot Malformation 6 |
|
Hand oligodactyly, Split foot, Split hand, Foot oligodactyly, Finger syndactyly, Toe syndactyly |
OMIM:225300 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Thickened helices, Hydrocephalus, Malar flattening, Hypoplasia of the zygomatic bone, Hearing abn... |
ORPHA:1555 |
Anterior Segment Dysgenesis 3 |
|
Hypoplastic iris stroma, Abnormal iris vasculature, Ectopia pupillae, Axenfeld anomaly, Posterior... |
OMIM:601631 |
Weill-Marchesani Syndrome 3 |
|
Microspherophakia, Shallow anterior chamber, Ectopia lentis |
OMIM:614819 |
Exfoliation Syndrome |
|
Lens subluxation, Anisocoria, Mydriasis, Pseudoexfoliation, Cataract, Phakodonesis, Pigment depos... |
OMIM:177650 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Depressed nasal bridge, Short nose, Juvenile cataract |
ORPHA:438178 |
Hydrolethalus |
|
Hydrocephalus, Retrognathia, Micrognathia, Abnormality of the sense of smell, Anencephaly, Arrhin... |
ORPHA:2189 |
Split-Hand/Foot Malformation 3 |
|
High palate, Narrow mouth, Microretrognathia, Cleft palate, Camptodactyly, Hypoplasia of the maxi... |
OMIM:246560 |
Lessel-Kreienkamp Syndrome |
|
Bicuspid aortic valve, Atrial septal defect, Pulmonic stenosis, Patent ductus arteriosus, Patent ... |
OMIM:619149 |
Cohen Syndrome |
|
Pectus excavatum, Tapered finger, Narrow palm, Optic atrophy, Downslanted palpebral fissures, Gen... |
ORPHA:193 |
Developmental And Epileptic Encephalopathy 73 |
|
Short nose, Cataract, Narrow nasal bridge |
OMIM:618379 |
Frank-Ter Haar Syndrome |
|
Pectus excavatum, Broad nasal tip, Depressed nasal bridge, Megalocornea, Hypoplasia of the corpus... |
OMIM:249420 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Abnormality of retinal pigmentation, Microphthalmia, Cerebral atrophy, Microcephaly, Retinal deta... |
OMIM:251270 |
Distal Monosomy 6P |
|
Depressed nasal bridge, Downslanted palpebral fissures, Abnormal epiphysis morphology, Vertebral ... |
ORPHA:96125 |
Noonan Syndrome 8 |
|
Atrial septal defect, Pulmonic stenosis, Mitral regurgitation, Left ventricular hypertrophy, Vent... |
OMIM:615355 |
Van Esch-O'Driscoll Syndrome |
|
Pulmonary valve atresia, Atrial septal defect, Spina bifida occulta, Ventricular septal defect, P... |
OMIM:301030 |
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies |
|
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta |
OMIM:604381 |
Otosclerosis 10 |
|
Otosclerosis |
OMIM:615589 |
Isolated Arrhinia |
|
Microtia, Aplasia of the nose, Hypoplasia of the nasal bone, Aplasia/Hypoplasia of the nasal sept... |
ORPHA:1134 |
Hurler Syndrome |
|
Hydrocephalus, Retinal degeneration, Broad nasal tip, Depressed nasal bridge, Short neck, Hypopla... |
OMIM:607014 |
Trisomy 1Q |
|
Hydrocephalus, Microretrognathia, Arachnodactyly, Depressed nasal bridge, Camptodactyly of finger... |
ORPHA:261344 |
Fibular Hemimelia |
|
Craniosynostosis, Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip sublu... |
ORPHA:93323 |
Gorlin-Chaudhry-Moss Syndrome |
|
Short distal phalanx of finger, Conductive hearing impairment, Upper eyelid coloboma, Aplasia/Hyp... |
ORPHA:2095 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Large earlobe, Malar prominence, Hypoplasia of the zygomatic bone, Macrotia, Mandibular prognathia |
ORPHA:2715 |
Alg3-Cdg |
|
Abnormal pinna morphology, Abnormality of the endocrine system, Dandy-Walker malformation, Hypopi... |
ORPHA:79321 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment |
ORPHA:85179 |
Alagille Syndrome 2 |
|
Peripheral pulmonary artery stenosis, Atrial septal defect, Pulmonic stenosis, Tetralogy of Fallo... |
OMIM:610205 |
Trisomy 12P |
|
Abnormal antihelix morphology, Aplasia/Hypoplasia affecting the eye, Clinodactyly of the 5th fing... |
ORPHA:1699 |
Aortic Arch Interruption |
|
Blood pressure substantially higher in arms than legs, Systolic heart murmur, Heart murmur, Ventr... |
ORPHA:2299 |
Microphthalmia With Limb Anomalies |
|
Depressed nasal bridge, Downslanted palpebral fissures, Single transverse palmar crease, Short no... |
OMIM:206920 |
Craniofacioskeletal Syndrome |
|
Barrel-shaped chest, Downslanted palpebral fissures, Ventricular septal defect, Clinodactyly of t... |
OMIM:300712 |
Robin Sequence-Oligodactyly Syndrome |
|
Clinodactyly of the 5th finger, Abnormal morphology of ulna, Cleft palate, Hand oligodactyly, Glo... |
ORPHA:3104 |
Neutropenia, Severe Congenital, 3, Autosomal Recessive |
|
Sensorineural hearing impairment, Conductive hearing impairment |
OMIM:610738 |
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly |
|
Premature loss of teeth, Metaphyseal dysplasia, Thin vermilion border, Short philtrum, Flared met... |
OMIM:156510 |
Adams-Oliver Syndrome 4 |
|
Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Atrial septal defect |
OMIM:615297 |
Meckel Syndrome, Type 1 |
|
Abnormal cardiac septum morphology, Hydrocephalus, Short neck, Anencephaly, Bowing of the long bo... |
OMIM:249000 |
Heterotaxy, Visceral, 1, X-Linked |
|
Hydrocephalus, Atrioventricular canal defect, Ventricular septal defect, Omphalocele, Cardiomegal... |
OMIM:306955 |
Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Aortic valve stenosis, Pulmonic stenosis, Situs inversus totalis, Hypertrophic cardiomyopathy, Tr... |
OMIM:615415 |
Cerebrooculonasal Syndrome |
|
Hydrocephalus, Sparse eyebrow, Hypoplasia of the corpus callosum, Short nose, Encephalocele, Prob... |
OMIM:605627 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Holoprosencephaly, Hemivertebrae, 11 pairs of ribs, Anophthalmia, Ventricular sept... |
ORPHA:77298 |
16P13.11 Microduplication Syndrome |
|
Atrial septal defect, Coarctation of aorta, Tetralogy of Fallot, Ventricular septal defect, Trans... |
ORPHA:261243 |
Microphthalmia, Syndromic 9 |
|
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Micrognathia, Single ventricle, Anophth... |
OMIM:601186 |
Vacterl With Hydrocephalus |
|
Hydrocephalus, Microphthalmia, Aqueductal stenosis, Inguinal hernia, Retrognathia, Micrognathia, ... |
ORPHA:3412 |
Meckel Syndrome, Type 10 |
|
Abnormal pinna morphology, Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Cereb... |
OMIM:614175 |
Metatropic Dysplasia |
|
Narrow chest, Kyphosis, Hydrocephalus, Halberd-shaped pelvis, Clinodactyly of the 5th finger, Cam... |
ORPHA:2635 |
Isolated Split Hand-Split Foot Malformation |
|
Sensorineural hearing impairment, Absent hand, Oligodactyly, Split hand, Aniridia, Finger syndactyly |
ORPHA:2440 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Large earlobe, Prominent ear helix, Bulbous nose, Thick eyebrow, Broad nasal tip, Anophthalmia, H... |
ORPHA:411986 |
Cataract 9, Multiple Types |
|
Progressive cataract, Microcornea, Iris coloboma, Cataract, Developmental cataract, Microphthalmia |
OMIM:604219 |
Megalocornea-Intellectual Disability Syndrome |
|
Sensorineural hearing impairment, Kyphosis, Protruding ear, Abnormal anterior chamber morphology,... |
ORPHA:2479 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Abnormal heart morphology, Corneal opacity, Hypopigmentation of hair, Cataract, Aplasia/Hypoplasi... |
ORPHA:1067 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Sensorineural hearing impairment, Conductive hearing impairment, Abnormal pinna morphology, Micro... |
OMIM:618500 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Hydrocephalus, Short humerus, Abnormality of the vertebral column, Abnormal vertebral morphology,... |
OMIM:314390 |
Weill-Marchesani Syndrome 4 |
|
Phakodonesis, Iridodonesis, Ectopia lentis |
OMIM:613195 |
Sponastrime Dysplasia |
|
Depressed nasal bridge, Platyspondyly, Biconcave vertebral bodies, Hypoplasia of the nasal bone, ... |
ORPHA:93357 |
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome |
|
Hearing abnormality, Aniridia, Abnormality of the pulmonary artery |
ORPHA:1065 |
Tetraamelia-Multiple Malformations Syndrome |
|
Hydrocephalus, Aplasia/Hypoplasia involving the nose, Microtia, Abnormally ossified vertebrae, Mi... |
ORPHA:3301 |
Jackson-Weiss Syndrome |
|
2-3 toe syndactyly, Short metatarsal, Split foot, Broad hallux phalanx, Symphalangism affecting t... |
ORPHA:1540 |
Phace Syndrome |
|
Abnormal cardiac septum morphology, Abnormal carotid artery morphology, Cataract, Aortic root ane... |
ORPHA:42775 |
Micro Syndrome |
|
Microcornea, Optic atrophy, Short nose, Cataract, Microphthalmia, Pachygyria, Micrognathia, Scoli... |
ORPHA:2510 |
Deafness And Myopia |
|
Conductive hearing impairment, Profound hearing impairment |
OMIM:221200 |
Neonatal Adrenoleukodystrophy |
|
Sensorineural hearing impairment, Wide anterior fontanel, Abnormality of retinal pigmentation, Bi... |
ORPHA:44 |
Microphthalmia With Brain And Digit Anomalies |
|
Sensorineural hearing impairment, Abnormality of the hypothalamus-pituitary axis, Microcephaly, S... |
ORPHA:139471 |
Cleft Velum |
|
Conductive hearing impairment, Recurrent otitis media |
ORPHA:99772 |
Non-Syndromic Bilambdoid And Sagittal Craniosynostosis |
|
Hydrocephalus, Clinodactyly of the 5th finger, Stenosis of the external auditory canal, Micrognat... |
ORPHA:1516 |
Split-Hand/Foot Malformation 2 |
|
Split foot, Short phalanx of finger, Split hand, Short metacarpal, Finger syndactyly |
OMIM:313350 |
Distal 22Q11.2 Microdeletion Syndrome |
|
Branchial fistula, Ulnar deviation of finger, Ventricular septal defect, Sandal gap, Bowing of th... |
ORPHA:261330 |
Short Rib-Polydactyly Syndrome |
|
Cleft palate, Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Short lo... |
ORPHA:1505 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Hypoplastic left heart, Anencephaly, Ventricular septal defect, Spina bifida, Gastroschisis |
ORPHA:2476 |
8Q24.3 Microdeletion Syndrome |
|
Exocrine pancreatic insufficiency, Pectus excavatum, Atrioventricular canal defect, Broad nasal t... |
ORPHA:508488 |
Bartsocas-Papas Syndrome |
|
Corneal opacity, Aplasia/Hypoplasia of the distal phalanges of the toes, Ankyloblepharon, Absent ... |
ORPHA:1234 |
Heterotaxy, Visceral, 4, Autosomal |
|
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... |
OMIM:613751 |
Heart-Hand Syndrome Type 2 |
|
Abnormal clavicle morphology, Abnormal morphology of ulna, Asymmetry of the thorax, Abnormality o... |
ORPHA:1350 |
Gracile Bone Dysplasia |
|
Hydrocephalus, Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Microphthalmia, An... |
OMIM:602361 |
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects |
|
Secundum atrial septal defect, Left ventricular hypertrophy, Tetralogy of Fallot, Pulmonary arter... |
OMIM:108900 |
Acro-Renal-Ocular Syndrome |
|
Radial club hand, Microcornea, Optic disc coloboma, Hypoplasia of the ulna, Sandal gap, Cataract,... |
ORPHA:959 |
Branchial Arch Syndrome, X-Linked |
|
Pulmonic stenosis |
OMIM:301950 |
Cardiac Diverticulum |
|
Angina pectoris, Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, U... |
ORPHA:1686 |
3C Syndrome |
|
Abnormal mitral valve morphology, Hydrocephalus, Atrioventricular canal defect, Depressed nasal b... |
ORPHA:7 |
Ear-Patella-Short Stature Syndrome |
|
Clinodactyly of the 5th finger, Retrognathia, Micrognathia, Camptodactyly of finger, Anotia, Micr... |
ORPHA:2554 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Depressed nasal ridge, Broad nasal tip, C1-C2 subluxation, Ventricular septal defect, Short nose,... |
ORPHA:79345 |
Otodental Syndrome |
|
Taurodontia, Microphthalmia, Otitis media with effusion, Retinal coloboma, Abnormal molar morphol... |
ORPHA:2791 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Aplasia/Hypoplasia of the eyebrow, Low-... |
ORPHA:990 |
Encephalocraniocutaneous Lipomatosis |
|
Hydrocephalus, Peripheral pulmonary artery stenosis, Atrial septal defect, Dandy-Walker malformat... |
OMIM:613001 |
Robinow Syndrome |
|
Tricuspid atresia, Pulmonary valve atresia, Atrial septal defect, Persistence of primary teeth, P... |
ORPHA:97360 |
Encephalocraniocutaneous Lipomatosis |
|
Tricuspid valve prolapse, Corneal opacity, Cerebral cortical atrophy, Aortic valve stenosis, Cere... |
ORPHA:2396 |
Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Short finger, Syndactyly, Split foot |
OMIM:314360 |
Doors Syndrome |
|
Bulbous nose, Macrodontia of permanent maxillary central incisor, Broad nasal tip, Cutaneous synd... |
ORPHA:79500 |
Weill-Marchesani Syndrome 2 |
|
Depressed nasal bridge, Shallow orbits, Ventricular septal defect, Iridodonesis, Broad ribs, Hypo... |
OMIM:608328 |
Momo Syndrome |
|
Dental malocclusion, Taurodontia, Short sternum, Retinal coloboma, Short neck, Delayed eruption o... |
OMIM:157980 |
Middle Ear Neuroendocrine Tumor |
|
Sensorineural hearing impairment, Abnormality of the auditory canal, Unilateral conductive hearin... |
ORPHA:100084 |
Norrie Disease |
|
Abnormal helix morphology, Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Cataract, Microph... |
ORPHA:649 |
Nivelon-Nivelon-Mabille Syndrome |
|
Narrow chest, Distal clavicular thinning, Upslanted palpebral fissure, Microcephaly, Brachydactyl... |
OMIM:600092 |
Multiple Synostoses Syndrome 4 |
|
Otosclerosis |
OMIM:617898 |
Symbrachydactyly Of Hands And Feet |
|
Vertebral segmentation defect, Abnormality of the humeroulnar joint, Abnormal morphology of ulna,... |
ORPHA:1570 |
Limb Body Wall Complex |
|
Hydrocephalus, Lens subluxation, Depressed nasal bridge, Aplasia of the proximal phalanges of the... |
ORPHA:2369 |
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome |
|
Absent foveal reflex, Peripheral retinal atrophy, Microcornea, Retinal dystrophy, Iris coloboma |
OMIM:615147 |
Aarskog-Scott Syndrome |
|
Cleft upper lip, Clinodactyly of the 5th finger, Cleft palate, Everted lower lip vermilion, Small... |
ORPHA:915 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Sclerotic humeral metaphysis, Metaphyseal irregularity, Costochondral joint sclerosis, Broad isch... |
OMIM:609052 |
Fryns Syndrome |
|
Abnormal helix morphology, Prominent fingertip pads, Hypoplasia of the optic tract, Short neck, V... |
OMIM:229850 |
Insulin-Like Growth Factor I, Resistance To |
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Pectus excavatum, Hypoplasia of the corpus callosum, Ventricular septal defect, Sandal gap, Abnor... |
OMIM:270450 |
Chromosome 22Q11.2 Deletion Syndrome, Distal |
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Truncus arteriosus, Highly arched eyebrow, Underdeveloped nasal alae, Malar flattening |
OMIM:611867 |
Supernumerary Nostril |
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Abnormality of ethmoid sinus, Facial cleft |
ORPHA:141096 |
Microtia, Hearing Impairment, And Cleft Palate |
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Microtia, Overfolded helix, Stenosis of the external auditory canal, Mixed hearing impairment, In... |
OMIM:612290 |
Treacher Collins Syndrome 4 |
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Conductive hearing impairment, Malar flattening, Micrognathia, Microcephaly, Downslanted palpebra... |
OMIM:618939 |
D-Lactic Aciduria With Gout |
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Downslanted palpebral fissures, Microcephaly, Aniridia, Inguinal hernia |
OMIM:245450 |
Whim Syndrome 2 |
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Tetralogy of Fallot |
OMIM:619407 |
Acheiropody |
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Aplasia of the ulna, Absent hand, Short tibia, Lower limb peromelia, Carpal bone aplasia, Short h... |
OMIM:200500 |
Cone-Rod Dystrophy 16 |
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Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... |
OMIM:614500 |
Chromosome 6Pter-P24 Deletion Syndrome |
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Hydrocephalus, Pectus excavatum, Depressed nasal bridge, Short neck, Downslanted palpebral fissur... |
OMIM:612582 |
Retinitis Pigmentosa 9 |
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Rod-cone dystrophy, Macular edema, Cataract, Macular atrophy, Bone spicule pigmentation of the re... |
OMIM:180104 |
Grange Syndrome |
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Ventricular septal defect, Aortic regurgitation, Arterial stenosis, Patent ductus arteriosus, Hyp... |
ORPHA:79094 |
Acrocardiofacial Syndrome |
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Mitral stenosis, Cerebral cortical atrophy, Atrial septal defect, Hyperthyroidism, Split foot, Ca... |
ORPHA:2008 |
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome |
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Anteverted nares, Short nose |
ORPHA:2015 |
Vitreoretinal Degeneration, Snowflake Type |
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Retinal detachment, Optically empty vitreous, Cataract, Snowflake vitreoretinal degeneration, Cor... |
OMIM:193230 |
Treacher Collins Syndrome 2 |
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Conductive hearing impairment, Microtia |
OMIM:613717 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
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Anteverted nares, Short nose, Depressed nasal ridge |
ORPHA:1355 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
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Retinal detachment, Lens subluxation, Cataract, Peripheral vitreoretinal degeneration |
OMIM:614292 |
Microphthalmia, Syndromic 12 |
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Retrognathia, Micrognathia, Broad nasal tip, Anophthalmia, Hypoplastic left atrium, Ventricular s... |
OMIM:615524 |
Stickler Syndrome Type 2 |
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Corneal opacity, Retinopathy, Retinal detachment, Cataract, Abnormal vitreous humor morphology |
ORPHA:90654 |
Aniridia And Absent Patella |
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Aplasia/Hypoplasia of the patella, Cataract, Aniridia |
OMIM:106220 |
Hypoplastic Left Heart Syndrome 1 |
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Aortic valve stenosis, Coarctation of aorta, Hypoplastic left heart |
OMIM:241550 |
Fanconi Anemia, Complementation Group D2 |
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Hydrocephalus, Microphthalmia, Absent thumb, Hypergonadotropic hypogonadism, Partial duplication ... |
OMIM:227646 |
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1 |
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Pulmonic stenosis, Spina bifida occulta, Transposition of the great arteries, Paroxysmal supraven... |
OMIM:617877 |
Laurin-Sandrow Syndrome |
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Preaxial foot polydactyly, Hydrocephalus, Absent tibia, Absent radius, Preaxial hand polydactyly,... |
ORPHA:2378 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
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Kyphosis, Wide anterior fontanel, Abnormal clavicle morphology, Absent eyebrow, Malar flattening,... |
ORPHA:85199 |
Johnson Neuroectodermal Syndrome |
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Conductive hearing impairment, Protruding ear, Multiple cafe-au-lait spots, Absent eyebrow, Micro... |
OMIM:147770 |
Tetralogy Of Fallot |
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Tetralogy of Fallot |
OMIM:187500 |
Fryns Syndrome |
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Short distal phalanx of finger, Abnormal cardiac septum morphology, Corneal opacity, Clinodactyly... |
ORPHA:2059 |
Cardiofaciocutaneous Syndrome 3 |
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Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertrophic cardiomyopathy |
OMIM:615279 |
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction |
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Ventricular septal defect, Left superior vena cava draining directly to the left atrium, Pulmonar... |
OMIM:613759 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Large earlobe, Hypoplasia of the ear cartilage, Camptodactyly of finger, Scoliosis, Bilateral sin... |
ORPHA:1236 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
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2-3 toe syndactyly, Joint contracture of the 4th finger, Inguinal hernia, Retrognathia, Micrognat... |
OMIM:618914 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
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Postaxial polydactyly |
OMIM:213010 |
Osteolysis Syndrome, Recessive |
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Osteolytic defects of the proximal phalanges of the hand, Osteolytic defects of the middle phalan... |
OMIM:259610 |
Orofaciodigital Syndrome Vi |
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High palate, Cleft upper lip, Accessory oral frenulum, Mesoaxial hand polydactyly, Cleft palate, ... |
OMIM:277170 |
Galloway-Mowat Syndrome 1 |
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Hiatus hernia, Slender finger, Hypoplasia of the corpus callosum, Optic atrophy, Cataract, Microp... |
OMIM:251300 |
Craniofacial-Deafness-Hand Syndrome |
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Sensorineural hearing impairment, Hypoplasia of the maxilla, Malar flattening |
OMIM:122880 |
Aorto-Ventricular Tunnel |
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Abnormal coronary artery morphology, Heart murmur, Aorto-ventricular tunnel, Aortic root aneurysm... |
ORPHA:3400 |
Meckel Syndrome, Type 11 |
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Polydactyly |
OMIM:615397 |
Neurofibromatosis-Noonan Syndrome |
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Pulmonic stenosis, Hypertrophic cardiomyopathy |
ORPHA:638 |
Burn-Mckeown Syndrome |
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