Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

transcription factor AP-2, alpha
Tcfap2a,  Ap2tf,  AP2alpha,  Ap-2 (a),  Ap2,  AP-2 alpha

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Not Significant
Not tested


The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tfap2a mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Tfap2a by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Tfap2a by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
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
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
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
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
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
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
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
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
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
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
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Mandibular prognathia, Inguinal hernia, Sandal gap, Micrognathia, Cupped ear, Lens coloboma, 2-3 ... OMIM:618914
Whim Syndrome 2
Tetralogy of Fallot OMIM:619407
Aarskog-Scott Syndrome
Delayed eruption of teeth, Finger syndactyly, Single transverse palmar crease, Camptodactyly of f... ORPHA:915
Encephalocraniocutaneous Lipomatosis
Craniofacial hyperostosis, Cerebral calcification, Abnormal nasolacrimal system morphology, Corne... ORPHA:2396
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Dolichocephaly, Coxa valga, Enlargement of the costochondr... OMIM:609052
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Aplasia/Hypoplasia of t... ORPHA:990
Chromosome 6Pter-P24 Deletion Syndrome
Short neck, Clinodactyly of the 5th finger, Atrial septal defect, Ocular anterior segment dysgene... OMIM:612582
Van Maldergem Syndrome 2
Short fourth metatarsal, Micrognathia, Hypoplasia of the maxilla, Cutaneous syndactyly of toes, C... OMIM:615546
Jackson-Weiss Syndrome
Mandibular prognathia, Broad hallux phalanx, Toe syndactyly, Hypoplasia of the maxilla, Short met... ORPHA:1540
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Frontal bossing, Camptodactyly of finger, Tapered finger, Abnormal thorax morphology, Brachycepha... ORPHA:1236
Short Syndrome
Delayed eruption of teeth, Enlarged epiphyses, Telecanthus, Inguinal hernia, Prominent superficia... OMIM:269880
Acrocardiofacial Syndrome
Hallux valgus, Finger syndactyly, Death in infancy, Toe syndactyly, Mitral stenosis, Ventricular ... ORPHA:2008
Recon Progeroid Syndrome
Prominence of the premaxilla, Arachnodactyly, Dental crowding, Proximal placement of thumb, Thin ... OMIM:620370
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Short nose, Anteverted nares ORPHA:2015
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Aniridia And Absent Patella
Aniridia, Cataract, Aplasia/Hypoplasia of the patella OMIM:106220
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Inguinal hernia, Pulmonic stenosis, Facial telangiectasia OMIM:620141
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormal dental enamel morphology, Micrognathia, Carious teeth, Wide nasal bridge, Protruding ear... ORPHA:3253
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Absent eyebrow, Abnormal clavicle morphology, Abnormal dental enamel morphology, Aplastic clavicl... ORPHA:85199
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Hydrocephalus, Wide nasal bridge, Protruding ear OMIM:618302
Oculoectodermal Syndrome
Giant cell granuloma of mandible, Atrial septal defect, Epicanthus, Transient ischemic attack, De... OMIM:600268
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Absent thumb, Absent radius, Short thumb, Patent ductus arteriosu... OMIM:227646
Prolidase Deficiency
Depressed nasal bridge, Micrognathia, Carious teeth, Depressed nasal ridge, Hypoplasia of the zyg... ORPHA:742
Tibial Hemimelia
Hemivertebrae, Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syn... ORPHA:93322
Meckel Syndrome, Type 11
Polydactyly OMIM:615397
Fryns Syndrome
Low-set, posteriorly rotated ears, Omphalocele, Corneal opacity, Aganglionic megacolon, Anteverte... ORPHA:2059
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao... ORPHA:3400
Supernumerary Nostril
Abnormality of ethmoid sinus, Facial cleft ORPHA:141096
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly OMIM:213010
Multiple Synostoses Syndrome 3
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... OMIM:612961
Laurin-Sandrow Syndrome
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... ORPHA:2378
Fanconi Anemia, Complementation Group L
Hypoplastic sacrum, Micrognathia, Absent thumb, Absent radius, Short neck, Hydrocephalus, Wide na... OMIM:614083
Hypoplastic Left Heart Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Coarctation of aorta OMIM:241550
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Tetralogy Of Fallot
Tetralogy of Fallot OMIM:187500
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the zygomatic bone, Wide nasal bridge ORPHA:710
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Encephalocraniocutaneous Lipomatosis
Atrial septal defect, Linear hyperpigmentation, Ventricular septal defect, Sclerocornea, Cortical... OMIM:613001
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Anencephaly, Aplasia/Hypoplasia of the radius, Hypoplast... ORPHA:2476
Burn-Mckeown Syndrome
Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia ORPHA:1200
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Acrofrontofacionasal Dysostosis
Brachydactyly, Camptodactyly of finger, Micromelia, Broad nasal tip, Brushfield spots, Hypopigmen... ORPHA:1784
Oculopharyngodistal Myopathy 3
Tremor, Conductive hearing impairment, Sensorineural hearing impairment OMIM:619473
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778