Syndactyly Type 2 |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camptodactyly of finger, Symphalangism affect... |
ORPHA:93403 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia |
OMIM:600776 |
Gombo Syndrome |
|
Radial deviation of finger, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:233270 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Syndactyly, Type Iv |
|
2-3 toe syndactyly, 1-5 finger complete cutaneous syndactyly, Postaxial polydactyly, Polydactyly,... |
OMIM:186200 |
Synpolydactyly 1 |
|
Clinodactyly of the 5th finger, Mesoaxial hand polydactyly, 6 metacarpals, 2nd-5th toe middle pha... |
OMIM:186000 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Congenital Radioulnar Synostosis |
|
Dislocated radial head, Abnormality of the musculature of the upper arm, Talipes equinovarus, Abn... |
ORPHA:3269 |
Meckel Syndrome, Type 8 |
|
Talipes equinovarus, Anophthalmia, Polydactyly, Postaxial hand polydactyly, Microphthalmia, Encep... |
OMIM:613885 |
Oculomaxillofacial Dysostosis |
|
Aplasia/Hypoplasia affecting the eye, Adducted thumb, Camptodactyly of finger, Abnormality of the... |
ORPHA:1794 |
Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
Anophthalmia Plus Syndrome |
|
Spina bifida, Anophthalmia, Facial cleft, Deviation of finger |
ORPHA:1104 |
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Ethmoidal encephalocele, Facial cle... |
OMIM:607597 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
Microphthalmia, Isolated 4 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:613094 |
Frontonasal Dysplasia 3 |
|
Facial cleft, Microphthalmia |
OMIM:613456 |
Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia, Facial cleft |
ORPHA:66625 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Talipes equinovarus, Hand oligodactyly, Camptodactyly of 2nd-5th fingers, Anophtha... |
OMIM:206920 |
Acrofacial Dysostosis, Weyers Type |
|
Clinodactyly of the 5th finger, Small hand, Overlapping fingers, Postaxial hand polydactyly, Faci... |
ORPHA:952 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Upper limb phocomelia, Abnormal hip bone morphology, Syndactyly, Polydactyly, Stillbirth |
ORPHA:294975 |
Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
Polydactyly, Postaxial, Type A1 |
|
Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Triphalangeal thumb, Broad thumb |
OMIM:174200 |
Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Facial cleft |
OMIM:600251 |
Santos Syndrome |
|
Talipes equinovarus, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Brachydactyly, Poly... |
OMIM:613005 |
Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Talipes equinovarus, Microphthalmia |
OMIM:616570 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia |
OMIM:616335 |
Dextrocardia With Unusual Facies And Microphthalmia |
|
Anophthalmia, Microphthalmia |
OMIM:221950 |
Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Facial cleft, Anterior encephalocele, Short femur |
OMIM:601357 |
Adams-Oliver Syndrome 4 |
|
Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Ap... |
OMIM:615297 |
Fibular Hemimelia |
|
Arthralgia of the hip, Abnormality of fibula morphology, Genu valgum, Hip subluxation, Disproport... |
ORPHA:93323 |
Mmep Syndrome |
|
Triphalangeal thumb, Split foot, Microphthalmia |
ORPHA:3434 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia |
OMIM:615771 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Congenital hip dislocation, Anophthalmia, Microphthalmia |
OMIM:164180 |
Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 3-4 finger syndactyly, Dy... |
OMIM:174700 |
Microphthalmia, Isolated, With Coloboma 6 |
|
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia |
OMIM:613703 |
Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, 2-3 toe syndactyly, Short 5th finger, Facial cleft |
OMIM:239800 |
Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615983 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Postaxial polydactyly, Adducted thumb, Overlapping fingers, Brach... |
OMIM:618167 |
Microphthalmia, Isolated 3 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Anencephaly 2 |
|
Anencephaly, Anophthalmia |
OMIM:619452 |
Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
Short Rib-Polydactyly Syndrome |
|
Cone-shaped epiphysis, Micromelia, Facial cleft, Bowing of the long bones, Short long bone, Aceta... |
ORPHA:1505 |
2Q24 Microdeletion Syndrome |
|
Bullet-shaped distal phalanx of the hallux, Camptodactyly of finger, Long fingers, Microphthalmia... |
ORPHA:1617 |
Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Syndactyly, Brachydactyly, Clinodactyly, Microphthalmia |
OMIM:610023 |
Jawad Syndrome |
|
Postaxial polydactyly, Single interphalangeal crease of fifth finger, Absent fourth finger distal... |
OMIM:251255 |
Frontofacionasal Dysplasia |
|
Encephalocele, Facial cleft, Microphthalmia |
ORPHA:1791 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Acrofacial Dysostosis, Catania Type |
|
Clinodactyly of the 5th finger, Small hand, Brachydactyly, Bilateral single transverse palmar cre... |
ORPHA:1786 |
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
Syndactyly Type 4 |
|
Short tibia, Camptodactyly of finger, 6 metacarpals, Triphalangeal thumb, Hand polydactyly, Foot ... |
ORPHA:93405 |
Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Congenital hip dislocation, Facial cleft, Hand polydactyly, Finge... |
ORPHA:1647 |
Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Bilateral single transverse palmar creases, Tapered finger, Broad thumb,... |
ORPHA:1236 |
Microphthalmia With Brain And Digit Anomalies |
|
Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proximal placement of thumb, Finger syn... |
ORPHA:139471 |
Mosaic Trisomy 9 |
|
Microphthalmia, Talipes equinovarus, Deep palmar crease, Camptodactyly of finger, Finger clinodac... |
ORPHA:99776 |
Microphthalmia, Isolated 8 |
|
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia |
OMIM:615113 |
Congenital Varicella Syndrome |
|
Micromelia, Microphthalmia |
ORPHA:291 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, 2-3 toe syndactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
Hydrolethalus |
|
Anencephaly, Anophthalmia, Micromelia, Arrhinencephaly, Postaxial hand polydactyly, Microphthalmia |
ORPHA:2189 |
Acropectoral Syndrome |
|
Preaxial polydactyly, Partial duplication of thumb phalanx, Triphalangeal thumb |
OMIM:605967 |
Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
Mycophenolate Mofetil Embryopathy |
|
Short palm, Foot polydactyly, Facial cleft, Microphthalmia |
ORPHA:268249 |
Trisomy 13 |
|
Ectrodactyly, Anophthalmia, Bilateral single transverse palmar creases, Postaxial hand polydactyl... |
ORPHA:3378 |
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Synpolydactyly 2 |
|
Carpal synostosis, Polydactyly, Metatarsal synostosis, Tarsal synostosis, Metacarpal synostosis, ... |
OMIM:608180 |
Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia |
OMIM:614082 |
Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Brachydactyly, Singl... |
OMIM:617927 |
Joubert Syndrome 22 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial foot polydactyly, Microphthalmia |
OMIM:615665 |
Carpenter Syndrome |
|
Talipes equinovarus, Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Genu val... |
ORPHA:65759 |
Bartsocas-Papas Syndrome 1 |
|
Talipes equinovarus, Absent thumb, Syndactyly, Short phalanx of finger, Short thumb, Limb undergr... |
OMIM:263650 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
Foveal Hypoplasia 2 |
|
Hypoplasia of the fovea, Microphthalmia |
OMIM:609218 |
Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Brachydactyly, Camptodactyly, Postaxial hand polydactyly, Pectoral... |
OMIM:136760 |
3Mc Syndrome 3 |
|
Preaxial polydactyly, Clinodactyly, Facial cleft, Radioulnar synostosis |
OMIM:248340 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Finger clinodactyly, Brachydactyly, Pectoral muscle hypoplasia/aplasia, ... |
ORPHA:306542 |
Meckel Syndrome, Type 5 |
|
Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the long bones, Mi... |
OMIM:611561 |
Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Bilateral microphthalmos |
OMIM:608763 |
Microphthalmia With Limb Anomalies |
|
True anophthalmia, Abnormality of the upper limb, Sandal gap, Bowing of the long bones, Microphth... |
ORPHA:1106 |
Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:248450 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Constricting Bands, Congenital |
|
Talipes equinovarus, Syndactyly, Facial cleft, Hand polydactyly, Encephalocele |
OMIM:217100 |
Temtamy Syndrome |
|
Short toe, Clinodactyly of the 5th finger, Brachydactyly, Genu varum, Microphthalmia |
ORPHA:1777 |
Curry-Jones Syndrome |
|
Abnormality of thumb phalanx, Preaxial hand polydactyly, Broad thumb, Microphthalmia, Foot polyda... |
ORPHA:1553 |
Isolated Arrhinia |
|
Facial cleft, Microphthalmia |
ORPHA:1134 |
Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
Xk Aprosencephaly Syndrome |
|
Abnormal morphology of the radius, Microphthalmia |
ORPHA:3469 |
Meckel Syndrome, Type 2 |
|
Anencephaly, Polydactyly, Postaxial hand polydactyly, Meningocele, Bowing of the long bones, Micr... |
OMIM:603194 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Brachydactyly, Polydactyly |
OMIM:615982 |
Seckel Syndrome 2 |
|
Heart murmur, Clinodactyly of the 5th finger, Microphthalmia |
OMIM:606744 |
Trisomy 1Q |
|
Arachnodactyly, Camptodactyly of finger, Anophthalmia, Preaxial hand polydactyly, Toe syndactyly |
ORPHA:261344 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Microphthalmia |
OMIM:602501 |
Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
Orofaciodigital Syndrome Vi |
|
Mesoaxial hand polydactyly, Postaxial polydactyly, Brachydactyly, Central Y-shaped metacarpal, Cl... |
OMIM:277170 |
Septooptic Dysplasia |
|
Optic nerve hypoplasia, Polydactyly, Optic disc hypoplasia, Short finger |
OMIM:182230 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Deep palmar crease, Broad palm, Short foot, Microphthalmia, ... |
OMIM:602342 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Distal shortening of limbs, Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Metap... |
OMIM:300863 |
Pierpont Syndrome |
|
Short toe, Prominent fingertip pads, Deep palmar crease, Excessive wrinkling of palmar skin, Micr... |
ORPHA:487825 |
Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia |
ORPHA:2528 |
Moebius Syndrome |
|
Talipes equinovarus, Brachydactyly, Short phalanx of finger, Syndactyly, Camptodactyly, Radial de... |
OMIM:157900 |
Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Rhizomelia, Abnormal epiphysis morphology, Bowing of the long bones, Microphthalmia, Proximal pla... |
ORPHA:93267 |
Cousin Syndrome |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Microphthalmia, 2-3 ... |
OMIM:260660 |
Hartsfield Syndrome |
|
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Microphthalmia |
ORPHA:2117 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Microphthalmia |
OMIM:616171 |
Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia |
OMIM:278780 |
Curry-Jones Syndrome |
|
Syndactyly, Duplication of thumb phalanx, Cutaneous syndactyly of toes, Broad thumb, Microphthalm... |
OMIM:601707 |
Cofs Syndrome |
|
Camptodactyly of finger, Microphthalmia |
ORPHA:1466 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Microphthalmia |
OMIM:120433 |
Craniotelencephalic Dysplasia |
|
Optic nerve hypoplasia, Frontal encephalocele, Arrhinencephaly, Microphthalmia |
OMIM:218670 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Microgastria-Limb Reduction Defect Syndrome |
|
Absent hand, Ectrodactyly, Abnormality of finger, Abnormality of the humerus, Anophthalmia, Abnor... |
ORPHA:2538 |
Pelvis-Shoulder Dysplasia |
|
Short clavicles, Clinodactyly of the 5th finger, Hypoplastic ilia, Congenital hip dislocation, Sp... |
OMIM:169550 |
Microphthalmia, Syndromic 8 |
|
Split foot, Microphthalmia |
OMIM:601349 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short distal phalanx of finger, Cone-shaped epiphyses of the phalanges of the hand, Postaxial pol... |
OMIM:617102 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:274270 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Talipes equinovarus, Tricuspid regurgitation, Mitral regurgitation, Camptodactyly of finger, Anop... |
ORPHA:1101 |
Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Joint contracture of the 4th finger, Pulmonic stenosis, Small thenar eminence... |
OMIM:618914 |
Bardet-Biedl Syndrome 9 |
|
Postaxial polydactyly, Syndactyly, Brachydactyly, Polydactyly, Postaxial hand polydactyly, Postax... |
OMIM:615986 |
Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Microphthalmia |
ORPHA:2547 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia |
OMIM:614830 |
Mend Syndrome |
|
Overlapping toe, 2-3 toe syndactyly, Aortic valve stenosis, Overlapping fingers, Polydactyly, Lon... |
OMIM:300960 |
17Q12 Microduplication Syndrome |
|
Toe syndactyly, Finger syndactyly, Microphthalmia |
ORPHA:261272 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizomelia, Hypoplastic iliac w... |
ORPHA:163966 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Anophthalmia, 3-4 finger syndactyly, Rhizomelia, Microphthalmia |
OMIM:615877 |
Laurin-Sandrow Syndrome |
|
Preaxial foot polydactyly, Absent tibia, Absent radius, Preaxial hand polydactyly, Limb duplicati... |
ORPHA:2378 |
Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
Developmental Delay With Variable Neurologic And Brain Abnormalities |
|
Down-sloping shoulders, Cubitus valgus, Camptodactyly, Microphthalmia |
OMIM:619694 |
Orofaciodigital Syndrome Type 10 |
|
Mesomelic leg shortening, Short toe, Hypoplasia of proximal radius, Preaxial polydactyly, Short t... |
ORPHA:2756 |
Braddock-Carey Syndrome 2 |
|
Clinodactyly, Microphthalmia |
OMIM:619981 |
Orofaciodigital Syndrome Xvii |
|
Partial duplication of thumb phalanx, Short middle phalanx of the 2nd finger, Polydactyly, Centra... |
OMIM:617926 |
Craniotelencephalic Dysplasia |
|
Frontal encephalocele, Septo-optic dysplasia, Arrhinencephaly, Microphthalmia |
ORPHA:1528 |
Congenital Primary Aphakia |
|
Congenital aphakia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye |
ORPHA:83461 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Fraser Syndrome 1 |
|
Myelomeningocele, Anophthalmia, Wide pubic symphysis, Facial cleft, Bilateral microphthalmos, Cut... |
OMIM:219000 |
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Occipital encephalocele, Microphthalmia |
ORPHA:324416 |
14Q22Q23 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Anophthalmia, Bilateral single transverse palm... |
ORPHA:264200 |
Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Microphthalmia |
OMIM:147250 |
Cat-Eye Syndrome |
|
Hip dysplasia, Microphthalmia |
ORPHA:195 |
Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly |
OMIM:615397 |
Bartsocas-Papas Syndrome 2 |
|
Small hand, Absent distal phalanges, 2-5 finger cutaneous syndactyly, Microphthalmia |
OMIM:619339 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal irregularity, Coxa vara, Bowing of the legs, Metaphyseal spurs, Short metacarpal, Nar... |
ORPHA:85167 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Microphthalmia |
ORPHA:899 |
Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Facial cleft, Microphthalmia |
ORPHA:861 |
Warburg Micro Syndrome 1 |
|
Overlapping toe, Microphthalmia |
OMIM:600118 |
Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Microphthalmia |
OMIM:613451 |
Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Microphthalmia, Metaphyseal widening, Abnormal lower limb ... |
ORPHA:2788 |
3P25.3 Microdeletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Pulmonic stenosis, 2-3 finger syndactyly, Tapered finger,... |
ORPHA:435638 |
Lissencephaly 8 |
|
Occipital encephalocele, Talipes equinovarus, Microphthalmia |
OMIM:617255 |
Joubert Syndrome 14 |
|
Hypertension, Encephalocele, Postaxial polydactyly, Microphthalmia |
OMIM:614424 |
Orofaciodigital Syndrome Viii |
|
Short tibia, Syndactyly, Polydactyly |
OMIM:300484 |
Oculotrichoanal Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2717 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:77298 |
Microphthalmia, Syndromic 13 |
|
Microphthalmia |
OMIM:300915 |
Triopia |
|
Encephalocele, Midline facial cleft |
ORPHA:3374 |
Microphthalmia, Syndromic 5 |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610125 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Dislocated radial head, Adducted thumb, Flared metaphysis, Camptodactyly of finger, Steep acetabu... |
OMIM:610758 |
Adams-Oliver Syndrome |
|
Short distal phalanx of finger, Absent hand, Absent toe, Brachydactyly, Abnormality of the upper ... |
ORPHA:974 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
Tibial Hemimelia |
|
Radial club hand, Aplasia of the 2nd metacarpal, Talipes equinovarus, Absent hallux, Polydactyly,... |
ORPHA:93322 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication, Absent tibia |
OMIM:188740 |
Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida occulta, Spina bifida, Finger syndactyly, Toe syndactyly |
ORPHA:64754 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Camptodactyly of finger, Microphthalmia |
ORPHA:48431 |
Bresek Syndrome |
|
Postaxial hand polydactyly, Optic nerve hypoplasia, Neonatal death, Microphthalmia |
ORPHA:85284 |
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome |
|
Abnormal femoral neck/head morphology, Slender finger, Wide proximal femoral metaphysis, Flattene... |
ORPHA:163649 |
Microgastria-Limb Reduction Defects Association |
|
Hand oligodactyly, Absent thumb, Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Hypopla... |
OMIM:156810 |
Martsolf Syndrome 1 |
|
Short toe, Talipes equinovarus, Short metacarpal, Slender ulna, Finger joint hypermobility, Avasc... |
OMIM:212720 |
Joubert Syndrome 18 |
|
Polydactyly, Camptodactyly |
OMIM:614815 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial hand polydactyly, Short fourth metatarsal, Brachydactyly, Polydactyly, Postaxial hand p... |
OMIM:615994 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Microphthalmia, Talipes equinovarus, Aplasia/Hy... |
OMIM:609945 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Reduced systolic function, Dilated cardiomyopathy, Microphthalmia |
OMIM:618805 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Umbilical hernia, Microphthalmia, Anophthalmia, Short phalanx of fing... |
OMIM:305600 |
Subaortic Stenosis-Short Stature Syndrome |
|
Bilateral single transverse palmar creases, Arrhythmia, Synostosis of carpal bones, Microphthalmia |
ORPHA:3191 |
Matthew-Wood Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2470 |
Oculofaciocardiodental Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Flexion contracture of the 2nd toe, Flexion c... |
ORPHA:2712 |
Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Tricuspid regurgitation, Postaxial polydactyly |
OMIM:600151 |
Ivic Syndrome |
|
Carpal synostosis, Short clavicles, Absent thumb, Limited interphalangeal movement, Hypoplasia of... |
OMIM:147750 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Tapered finger, Microphthalmia |
ORPHA:1438 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:617914 |
Cockayne Syndrome Type 2 |
|
Anophthalmia |
ORPHA:90322 |
Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial polydactyly |
OMIM:617127 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Upper limb asymmetry, Polydactyly |
ORPHA:231140 |
Microcephaly-Micromelia Syndrome |
|
Forearm undergrowth, Talipes equinovarus, Abnormality of the hand, Short tibia, Micromelia, Oligo... |
OMIM:251230 |
Meckel Syndrome, Type 4 |
|
Microphthalmia, Anencephaly, Postaxial hand polydactyly, Bowing of the long bones, Meningocele, E... |
OMIM:611134 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Joint contracture of the hand, Camptodactyly, Elbow flexion contracture, Rocker b... |
OMIM:214150 |
Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Tachycardia, Internal hemorrhage, Microphthalmia |
ORPHA:335 |
Acro-Renal-Ocular Syndrome |
|
Short distal phalanx of the thumb, Finger syndactyly, Radial club hand, Broad hallux phalanx, Sho... |
ORPHA:959 |
Mosaic Trisomy 1 |
|
Long toe, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Camptodactyly of finger, Finger c... |
ORPHA:1692 |
Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Postaxial polydactyly, Anencephaly, Camptodactyly, Postaxial hand po... |
OMIM:614175 |
Meckel Syndrome |
|
Anophthalmia, Anencephaly, Postaxial hand polydactyly, Postaxial foot polydactyly, Bowing of the ... |
ORPHA:564 |
Vacterl With Hydrocephalus |
|
Hypoplasia of the radius, Anophthalmia, Arrhinencephaly, Microphthalmia, Hip dislocation, Spina b... |
ORPHA:3412 |
Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Brachydactyly, Microphthalmia |
OMIM:614526 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Camptodactyly of finger, Rocker bottom foot, Microphthalmia |
OMIM:610756 |
Au-Kline Syndrome |
|
Overlapping toe, Deep palmar crease, Hip dysplasia, Postaxial polydactyly |
OMIM:616580 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
Joubert Syndrome 10 |
|
Postaxial polydactyly |
OMIM:300804 |
Microphthalmia, Isolated 5 |
|
Microphthalmia |
OMIM:611040 |
Cerebrooculonasal Syndrome |
|
Postaxial polydactyly, Optic nerve hypoplasia, Anophthalmia, Postaxial hand polydactyly, Encephal... |
OMIM:605627 |
Refsum Disease |
|
Short metacarpal, Hammertoe, Abnormal epiphysis morphology, Microphthalmia, Heart block, Cardiomy... |
ORPHA:773 |
Pelvis-Shoulder Dysplasia |
|
Dislocated radial head, Talipes equinovarus, Aplasia/Hypoplasia of the fibula, Camptodactyly of f... |
ORPHA:2839 |
Duane-Radial Ray Syndrome |
|
Absent thumb, Hypoplasia of the radius, Pectoralis hypoplasia, Small thenar eminence, Short humer... |
OMIM:607323 |
Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microph... |
ORPHA:137902 |
Orofaciodigital Syndrome Iv |
|
Postaxial polydactyly, Short tibia, Brachydactyly, Short finger, Clinodactyly, Hand polydactyly, ... |
OMIM:258860 |
Adams-Oliver Syndrome 2 |
|
Single transverse palmar crease, Microphthalmia |
OMIM:614219 |
Congenital Rubella Syndrome |
|
Abnormal metaphysis morphology, Aplasia/Hypoplasia of the iris, Microphthalmia |
ORPHA:290 |
Fanconi Anemia, Complementation Group S |
|
Proximal placement of thumb, Clinodactyly, Microphthalmia |
OMIM:617883 |
Holoprosencephaly |
|
Brachydactyly, Anophthalmia, Arrhythmia, Spinal dysraphism, Branchial anomaly, Microphthalmia, Ha... |
ORPHA:2162 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia |
OMIM:251270 |
Meckel Syndrome 14 |
|
Tricuspid regurgitation, Postaxial polydactyly, Mitral regurgitation, Syndactyly, Postaxial hand ... |
OMIM:619879 |
Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Contracture of the proximal interphalangeal joint of the 3rd toe, 2... |
OMIM:300166 |
Sandestig-Stefanova Syndrome |
|
Microphthalmia, Bilateral single transverse palmar creases, Camptodactyly, Clinodactyly, Rocker b... |
OMIM:618804 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
Acromelic Frontonasal Dysostosis |
|
Talipes equinovarus, Preaxial polydactyly, Syndactyly, Polydactyly, Encephalocele |
OMIM:603671 |
Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Gracile Bone Dysplasia |
|
Flared metaphysis, Brachydactyly, Slender long bone, Microphthalmia, Aniridia |
OMIM:602361 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Short distal phalanx of finger, Postaxial polydactyly, Micromelia, Polydactyly, Brachydactyly, Sy... |
OMIM:614091 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Short long bone, Postaxial polydactyly |
OMIM:615633 |
Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
Ritscher-Schinzel Syndrome 3 |
|
Shortening of all distal phalanges of the fingers, Short 1st metacarpal, Hypoplasia of the ulna, ... |
OMIM:619135 |
Monosomy 18P |
|
Hypertension, Brachydactyly, Microphthalmia |
ORPHA:1598 |
2Q31.1 Microdeletion Syndrome |
|
Ectrodactyly, Clinodactyly of the 5th finger, Abnormal morphology of ulna, Broad hallux phalanx, ... |
ORPHA:251014 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Mitral regurgitation, Postaxial polydactyly |
OMIM:603387 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the ulna, Aplasia of the 1st metaca... |
ORPHA:1352 |
Joubert Syndrome 37 |
|
Postaxial polydactyly, Microphthalmia |
OMIM:619185 |
Microphthalmia, Syndromic 11 |
|
Microphthalmia |
OMIM:614402 |
Neurooculocardiogenitourinary Syndrome |
|
Abnormality of the palmar creases, Tricuspid regurgitation, Microphthalmia |
OMIM:618652 |
Meckel Syndrome, Type 3 |
|
Postaxial hand polydactyly, Occipital encephalocele, Postaxial foot polydactyly, Polydactyly |
OMIM:607361 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, Over... |
OMIM:618142 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Overlapping toe, Postaxial polydactyly, Tapered finger, Macular hypoplasia |
OMIM:613792 |
Microphthalmia, Syndromic 9 |
|
Pulmonic stenosis, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
Subaortic Stenosis--Short Stature Syndrome |
|
Short toe, Small hand, Broad finger, Short phalanx of finger, Short foot, Microphthalmia, Short p... |
OMIM:271960 |
Congenital Toxoplasmosis |
|
Microphthalmia |
ORPHA:858 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Postaxial polydactyly, Broad distal phalanx of finger, Postaxial foot polydac... |
ORPHA:404440 |
20P13 Microdeletion Syndrome |
|
Clinodactyly, Brachydactyly, Polydactyly, Finger syndactyly |
ORPHA:313781 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
Stevenson-Carey Syndrome |
|
Hip dysplasia, Joint contracture of the hand, Camptodactyly, Microphthalmia |
OMIM:611961 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Overlapping toe, Talipes equinovarus, Distally placed thumb, Pulmonic stenosis, Small thenar emin... |
OMIM:619148 |
Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
Microphthalmia |
ORPHA:1135 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Clinodactyly of the 5th finger, Prominent fingertip pads, Postaxial polydactyly, Arachnodactyly, ... |
OMIM:619721 |
Cockayne Syndrome Type 1 |
|
Hypertension, Anophthalmia |
ORPHA:90321 |
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Clinodactyly of the 5th finger, Microphthalmia, Hypoplasia of the ulna, Aplasia of the 1st metaca... |
OMIM:600123 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Micromelia, Abnormal pelvis bone ossification, Postaxial hand polydactyly, Facial cleft, Short fo... |
ORPHA:93271 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Postaxial polydactyly |
OMIM:617757 |
Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 3rd metacarpal, Umbilical hernia, Short 4th metacarpal... |
OMIM:169400 |
Kapur-Toriello Syndrome |
|
Clinodactyly of the 5th toe, Joint contracture of the hand, Camptodactyly of finger, Overlapping ... |
OMIM:244300 |
Roberts Syndrome |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Mesomelic arm shortening, Hypopl... |
ORPHA:3103 |
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
3-4 toe syndactyly, Brachydactyly, Broad hallux, Sandal gap, Clinodactyly, Microphthalmia |
OMIM:618727 |
Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Single transverse palmar crease, Hypertrophic cardiomyopathy, Microphthalmia |
OMIM:619053 |
Autosomal Dominant Keratitis |
|
Hypoplastic iris stroma, Corneal neovascularization, Hypoplasia of the fovea, Bilateral microphth... |
ORPHA:2334 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:615181 |
Microphthalmia, Isolated, With Corectopia |
|
Microphthalmia |
OMIM:156900 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palm, Long fingers, Tapered finger, Microphthalmia |
OMIM:616734 |
Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
Developmental And Epileptic Encephalopathy 1 |
|
Microphthalmia |
OMIM:308350 |
Fanconi Anemia, Complementation Group I |
|
Absent thumb, Hypoplasia of the radius, Optic nerve hypoplasia, Short 1st metacarpal, Microphthal... |
OMIM:609053 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
Anterior Segment Dysgenesis 7 |
|
Buphthalmos, Microphthalmia |
OMIM:269400 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Ectrodactyly, Clinodactyly of the 5th finger, Syndactyly, Polydactyly, Short 5th finger, Small pl... |
ORPHA:397590 |
Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Encephalocele, Genu valgum, Postaxial polydactyly |
OMIM:611560 |
Baraitser-Winter Syndrome 2 |
|
Microphthalmia |
OMIM:614583 |
Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bilateral microphthalmos, Unilateral microphthalmos |
OMIM:619318 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Brach... |
OMIM:617866 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Acetabular spurs, Absent tibia, Talipes equinovarus, Metaphyseal spurs, Postaxial polydactyly, Pr... |
OMIM:613091 |
Focal Dermal Hypoplasia |
|
Telangiectasia of the skin, Short clavicles, Abnormal palmar dermatoglyphics, Split foot, Hand po... |
ORPHA:2092 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Postaxial polydactyly, Hypoplasia of the radius, Hypoplastic ilia, Brachydactyly, Micromelia, Syn... |
OMIM:617895 |
Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia |
ORPHA:1942 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia |
OMIM:601794 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris |
OMIM:604229 |
Baraitser-Winter Syndrome 1 |
|
Duplication of phalanx of hallux, Aortic valve stenosis, Microphthalmia |
OMIM:243310 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Overlapping toe, 2-3 toe syndactyly, Adducted thumb, Deviation of the 2nd finger, Contracture of ... |
ORPHA:464738 |
Vitreoretinochoroidopathy |
|
Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
OMIM:193220 |
Frontorhiny |
|
Basal encephalocele, Camptodactyly of finger, Brachydactyly, Finger clinodactyly, Cranium bifidum... |
ORPHA:391474 |
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome |
|
Microphthalmia |
ORPHA:363741 |
Microphthalmia, Syndromic 3 |
|
Optic nerve hypoplasia, Optic nerve aplasia, Anophthalmia, Microphthalmia |
OMIM:206900 |
Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Endocrine-Cerebroosteodysplasia |
|
Ulnar deviation of the hand, Postaxial polydactyly, Preaxial polydactyly, Micromelia, Polydactyly... |
OMIM:612651 |
Rhombencephalosynapsis |
|
Polydactyly, Short phalanx of finger, Complete duplication of thumb phalanx, Septo-optic dysplasi... |
ORPHA:59315 |
Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Microphthalmia |
OMIM:614105 |
Pallister-Hall Syndrome |
|
Distal shortening of limbs, Mesoaxial hand polydactyly, Mesoaxial foot polydactyly, Syndactyly, N... |
OMIM:146510 |
Holoprosencephaly 1 |
|
Facial cleft, Microphthalmia |
OMIM:236100 |
Microphthalmia, Syndromic 6 |
|
Flexion contracture of thumb, Clinodactyly of the 5th finger, Abnormality of the hand, Anophthalm... |
OMIM:607932 |
Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
1Q21.1 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Talipes equinovarus, Broad hallux phalanx, Broad thumb, Short foo... |
ORPHA:250989 |
Marden-Walker Syndrome |
|
Talipes equinovarus, Joint contracture of the hand, Arachnodactyly, Radioulnar synostosis, Campto... |
OMIM:248700 |
Oculodentodigital Dysplasia, Autosomal Recessive |
|
Small hand, 4-5 finger syndactyly, 2-4 toe cutaneous syndactyly, Short foot, Microphthalmia, Broa... |
OMIM:257850 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia |
OMIM:613153 |
Holoprosencephaly 9 |
|
Postaxial hand polydactyly, Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
OMIM:610829 |
Suleiman-El-Hattab Syndrome |
|
Single transverse palmar crease, Clinodactyly, Brachydactyly, Polydactyly |
OMIM:618950 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly |
OMIM:301022 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Stippled calcification in carpal bones, Bilateral talipes equinovarus, Postaxial polydactyly, Hem... |
OMIM:302960 |
Teebi-Shaltout Syndrome |
|
Ulnar deviation of the hand, Aortic valve stenosis, Talipes equinovarus, Microphthalmia, Syndacty... |
OMIM:272950 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Cohen Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Arachnodactyly, Narrow palm, Tapere... |
ORPHA:193 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2250 |
3Q29 Microduplication Syndrome |
|
Camptodactyly of toe, Sandal gap, Microphthalmia, Aniridia, Toe syndactyly |
ORPHA:251038 |
Nance-Horan Syndrome |
|
Broad finger, Short phalanx of finger, Microphthalmia |
OMIM:302350 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Heart murmur, Abnormal palmar dermatoglyphics, Microphthalmia |
ORPHA:2728 |
Spondylo-Ocular Syndrome |
|
Aplasia/Hypoplasia of the lens, Microphthalmia |
ORPHA:85194 |
Congenital Sialidosis Type 2 |
|
Polydactyly, Hypoplasia of the fovea, Abnormal EKG, Umbilical hernia, Telangiectasia |
ORPHA:93400 |
Familial Exudative Vitreoretinopathy |
|
Macular telangiectasia, Vitreous hemorrhage, Retinal neovascularization, Microphthalmia |
ORPHA:891 |
Multiple Benign Circumferential Skin Creases On Limbs |
|
Umbilical hernia, Upper limb asymmetry, Congestive heart failure, Microphthalmia |
ORPHA:2505 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microphthalmia |
OMIM:614833 |
Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Broad hallux, Deviation of the 5th finger, Hip dysplasia, Postaxial polydactyly |
OMIM:616362 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Syndactyly, Camptodactyly, Clinodactyly, Bilateral microphthalmos, Umbil... |
ORPHA:369891 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Encephalocele, Hypoplastic pelvis, Rhizomelia, Micro... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Acetabular spurs, Postaxial polydactyly, Preaxial polydactyly, Femoral bowing, Brachydactyly, Syn... |
OMIM:615503 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Optic nerve hypoplasia, Occipital encephalocele, Cardiomyopathy, Microphthalmia |
ORPHA:370959 |
Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly |
OMIM:616629 |
Cryptophthalmos, Unilateral Or Bilateral, Isolated |
|
Microphthalmia |
OMIM:123570 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Mitral regurgitation, Anophthalmia, Arrhythmia, Dilated cardiomyopathy, ... |
ORPHA:2556 |
Heart And Brain Malformation Syndrome |
|
Camptodactyly of finger, Hand clenching, Microphthalmia |
OMIM:616920 |
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness |
|
Microphthalmia |
OMIM:617306 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
3-4 finger cutaneous syndactyly, Sandal gap, Talipes equinovarus, Microphthalmia |
OMIM:612530 |
Exudative Vitreoretinopathy 2, X-Linked |
|
Retinal neovascularization, Microphthalmia |
OMIM:305390 |
Incontinentia Pigmenti |
|
Telangiectasia of the skin, Absent hand, Camptodactyly of finger, Retinal hemorrhage, Cerebral is... |
ORPHA:464 |
Oculodentodigital Dysplasia |
|
3-4 toe syndactyly, Arrhythmia, 4-5 finger syndactyly, Joint contracture of the 5th finger, Cubit... |
OMIM:164200 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Warburg Micro Syndrome 3 |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:614222 |
Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia |
ORPHA:2399 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Overlapping toe, Broad phalanx, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Optic nerve h... |
ORPHA:508498 |
Microphthalmia, Lenz Type |
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Clinodactyly of the 5th finger, Camptodactyly of finger, Abnormal shoulder morphology, Complete d... |
ORPHA:568 |
Charge Syndrome |
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Absent tibia, Abnormal palmar dermatoglyphics, Bilateral talipes equinovarus, Pulmonic stenosis, ... |
OMIM:214800 |
Tarp Syndrome |
|
Short sternum, Talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Deep palmar ... |
OMIM:311900 |
Yunis-Varon Syndrome |
|
Slender long bones with narrow diaphyses, Absent thumb, Tapered finger, Short proximal phalanx of... |
ORPHA:3472 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Microphthalmia |
ORPHA:228390 |
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Cervical spina bifida, Bilateral microphthalmos |
OMIM:600122 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Genu valgum, Postaxial polydactyly |
OMIM:619142 |
X-Linked Dominant Chondrodysplasia Punctata |
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Talipes equinovarus, Neonatal epiphyseal stippling, Upper limb asymmetry, Microphthalmia, Hip dis... |
ORPHA:35173 |
Charge Syndrome |
|
Clinodactyly of the 5th finger, Brachydactyly, Anophthalmia, Abnormality of tibia morphology, Bif... |
ORPHA:138 |
Pseudotrisomy 13 Syndrome |
|
2-3 toe syndactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Microphthalmia, Encep... |
OMIM:264480 |
Fraser Syndrome |
|
Myelomeningocele, Anophthalmia, Wide pubic symphysis, Umbilical hernia, Microphthalmia, Encephalo... |
ORPHA:2052 |
Rere-Related Neurodevelopmental Syndrome |
|
Hip dysplasia, Microphthalmia |
ORPHA:494344 |
Congenital Disorder Of Glycosylation, Type Iq |
|
Microphthalmia |
OMIM:612379 |
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Microphthalmia |
OMIM:152950 |
Basal Cell Nevus Syndrome |
|
Short distal phalanx of the thumb, Irregular ossification of hand bones, Down-sloping shoulders, ... |
OMIM:109400 |
Warburg Micro Syndrome 2 |
|
Overlapping toe, Microphthalmia |
OMIM:614225 |
8Q21.11 Microdeletion Syndrome |
|
Camptodactyly of finger, Abnormal metacarpal morphology, Absent palmar crease, Microphthalmia, Fi... |
ORPHA:284160 |
Otopalatodigital Syndrome Type 2 |
|
Myelomeningocele, Carpal synostosis, Flared iliac wing, Encephalocele, Preaxial polydactyly, Camp... |
ORPHA:90652 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Abnormally large globe, Microphthalmia |
OMIM:615249 |
3Q29 Microdeletion Syndrome |
|
Clinodactyly of the 5th finger, Pulmonary arterial hypertension, Tapered finger, Microphthalmia |
ORPHA:65286 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Narrow greater sciatic notch, Postaxial polydactyly, Preaxial polydactyly, Short tibia, Hypoplast... |
OMIM:617925 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Camptodactyly, Absent palmar crease, Microphthalmia, Short metacarpal |
OMIM:614230 |
Anterior Segment Dysgenesis 2 |
|
Congenital aphakia, Anterior segment of eye aplasia, Aniridia, Microphthalmia |
OMIM:610256 |
Mend Syndrome |
|
Overlapping toe, 2-3 toe syndactyly, Aortic valve stenosis, Overlapping fingers, Long fingers, Br... |
ORPHA:401973 |
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome |
|
Microphthalmia |
ORPHA:231736 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Stromme Syndrome |
|
Preaxial polydactyly, Optic nerve hypoplasia, Stillbirth, Microphthalmia |
OMIM:243605 |
Galloway-Mowat Syndrome 3 |
|
Arachnodactyly, Camptodactyly, Microphthalmia, Hypertension, Hip dislocation |
OMIM:617729 |
Histiocytoid Cardiomyopathy |
|
Congenital aphakia, Wolff-Parkinson-White syndrome, Supraventricular tachycardia, Tachycardia, Ju... |
ORPHA:137675 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Rodrigues Blindness |
|
Microphthalmia |
OMIM:268320 |
Neu-Laxova Syndrome 1 |
|
Microphthalmia, Joint contracture of the hand, Short umbilical cord, Micromelia, Camptodactyly, L... |
OMIM:256520 |
Fanconi Anemia, Complementation Group F |
|
Absent thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microphthalmia, Short thumb |
OMIM:603467 |
Microphthalmia-Brain Atrophy Syndrome |
|
Bilateral microphthalmos |
ORPHA:77299 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:2526 |
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Overlapping toe, Microphthalmia |
OMIM:618571 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Microphthalmia |
OMIM:156610 |
Fanconi Anemia, Complementation Group E |
|
Absent thumb, Short thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius |
OMIM:600901 |
Trisomy 18 |
|
Abnormal hip bone morphology, Camptodactyly of finger, Bilateral single transverse palmar creases... |
ORPHA:3380 |
Orofaciodigital Syndrome Type 6 |
|
Preaxial polydactyly, Finger clinodactyly, Brachydactyly, Syndactyly, Mesoaxial polydactyly, Cent... |
ORPHA:2754 |
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Phocomelia, Microph... |
ORPHA:3186 |
Myhre Syndrome |
|
Overlapping toe, Short toe, 2-3 toe syndactyly, Aortic valve stenosis, Cone-shaped epiphysis, Bra... |
OMIM:139210 |
Branchiooculofacial Syndrome |
|
Clinodactyly of the 5th finger, Anophthalmia, Short thumb, Single transverse palmar crease, Elbow... |
OMIM:113620 |
Steinfeld Syndrome |
|
Hypoplasia of the radius, Hypoplasia of the ulna, Phocomelia, Microphthalmia, Aplasia/Hypoplasia ... |
OMIM:184705 |
Otodental Syndrome |
|
Lens coloboma, Microphthalmia |
ORPHA:2791 |
Fanconi Anemia, Complementation Group A |
|
Absent thumb, Short thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius |
OMIM:227650 |
Bardet-Biedl Syndrome 1 |
|
Postaxial polydactyly, Brachydactyly, Syndactyly, Postaxial hand polydactyly, Postaxial foot poly... |
OMIM:209900 |
Joubert Syndrome 2 |
|
Postaxial hand polydactyly, Encephalocele, Postaxial foot polydactyly, Microphthalmia |
OMIM:608091 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly |
ORPHA:531151 |
Acrofrontofacionasal Dysostosis 1 |
|
Short distal phalanx of finger, Broad thumb, Microphthalmia, Short metacarpal, Acetabular dysplasia |
OMIM:201180 |
Persistent Hyperplastic Primary Vitreous |
|
Phthisis bulbi, Microphthalmia, Buphthalmos, Macular hypoplasia, Hemorrhage of the eye |
ORPHA:91495 |
Warburg Micro Syndrome 4 |
|
Microphthalmia |
OMIM:615663 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Microphthalmia |
OMIM:615145 |
Galloway-Mowat Syndrome 1 |
|
Talipes equinovarus, Slender finger, Joint contracture of the hand, Camptodactyly, Hypoplasia of ... |
OMIM:251300 |
Adams-Oliver Syndrome 1 |
|
Aortic valve stenosis, Talipes equinovarus, Pulmonic stenosis, Brachydactyly, Microphthalmia, Hyp... |
OMIM:100300 |
Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Absent thumb, Partial duplication of thumb phalanx, Absent radius, Short thumb, C... |
OMIM:227646 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Buphthalmos, Hyphema, Phthisis bulbi, Microphthalmia |
OMIM:221900 |
Trichothiodystrophy 3, Photosensitive |
|
Microphthalmia |
OMIM:616395 |
Rothmund-Thomson Syndrome, Type 2 |
|
Short palm, Talipes equinovarus, Small hand, Congenital hip dislocation, Short foot, Microphthalm... |
OMIM:268400 |
Proboscis Lateralis |
|
Optic nerve hypoplasia, Anophthalmia, Microphthalmia |
ORPHA:141099 |
Oculopalatocerebral Syndrome |
|
Microphthalmia |
OMIM:257910 |
Fanconi Anemia |
|
Spina bifida, Abnormality of femur morphology, Aplasia/Hypoplasia of fingers, Clinodactyly of the... |
ORPHA:84 |
Momo Syndrome |
|
Short sternum, Femoral bowing, Large hands, Bilateral microphthalmos, Congenital pseudoarthrosis ... |
ORPHA:2563 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Optic nerve hypoplasia, Encephalocele, Adducted thumb, Microphthalmia |
OMIM:614643 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Aplasia/Hypoplasia involving the pelvis, Microphthalmia |
ORPHA:3301 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Rhizomelic leg shortening, Postaxial polydactyly, Abnormal 5th metacarpal morphology, Cone-shaped... |
ORPHA:397715 |
Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Microphthalmia |
OMIM:120200 |
Oculo-Palato-Cerebral Syndrome |
|
Small hand, Short foot, Microphthalmia |
ORPHA:2714 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Aplasia of the distal phalanx of the 5th toe, Brachydactyly, Aplasia of the distal phalanx of the... |
ORPHA:364577 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Hip dysplasia, Postaxial polydactyly |
OMIM:614576 |
Fetal Alcohol Syndrome |
|
Microphthalmia |
ORPHA:1915 |
Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Clinodactyly, Tricuspid regurgitation, Postaxial polydactyly |
OMIM:618460 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly |
OMIM:615824 |
Fanconi Anemia, Complementation Group C |
|
Absent thumb, Short thumb, Complete duplication of thumb phalanx, Microphthalmia, Absent radius |
OMIM:227645 |
Xeroderma Pigmentosum, Complementation Group D |
|
Corneal neovascularization, Telangiectasia, Microphthalmia |
OMIM:278730 |
Meckel Syndrome, Type 1 |
|
Postaxial polydactyly, Camptodactyly of finger, Syndactyly, Anencephaly, Postaxial hand polydacty... |
OMIM:249000 |
Hallermann-Streiff Syndrome |
|
Abnormality of the hand, Metaphyseal widening, Slender long bone, Microphthalmia, Hypertension, T... |
OMIM:234100 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia |
OMIM:616538 |
Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Brachydactyly, Microphthalmia, Aplasia/Hypoplasia of the thumb, F... |
ORPHA:1587 |
Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Phthisis bulbi, Microphthalmia |
OMIM:259770 |
Kapur-Toriello Syndrome |
|
Microphthalmia |
ORPHA:2328 |
Microphthalmia, Syndromic 1 |
|
Short clavicles, Abnormal palmar dermatoglyphics, Joint contracture of the hand, Prominent finger... |
OMIM:309800 |
Hydrolethalus Syndrome 1 |
|
Talipes equinovarus, Proximal tibial hypoplasia, Anencephaly, Upper limb undergrowth, Arrhinencep... |
OMIM:236680 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Microphthalmia |
OMIM:234050 |
Adnp Syndrome |
|
Abnormality of finger, 2-3 toe syndactyly, Abnormality of toe, Brachydactyly, Polydactyly, Single... |
ORPHA:404448 |
Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Umbilical hernia, Microphthalmia |
ORPHA:77301 |
Pseudoaminopterin Syndrome |
|
Overlapping toe, Clinodactyly of the 5th toe, Slender finger, Postaxial polydactyly, Clinodactyly... |
ORPHA:221120 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
|
Unilateral microphthalmos, Adducted thumb |
OMIM:618874 |
Norrie Disease |
|
Buphthalmos, Hypoplasia of the iris, Microphthalmia |
OMIM:310600 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Microphthalmia |
ORPHA:1806 |
Hallermann-Streiff Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Short foot, Microphthalmia, Congestive heart failure |
ORPHA:2108 |
Craniofacial Microsomia |
|
Transverse facial cleft, Partial duplication of thumb phalanx, Anophthalmia, Genu valgum, Branchi... |
OMIM:164210 |
Fryns Syndrome |
|
Short distal phalanx of finger, Clinodactyly of the 5th finger, Microphthalmia |
ORPHA:2059 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Pulmonic stenosis, Encephalocele, Dilated cardiomyopathy, Microphthalmia |
OMIM:253800 |
Orofaciodigital Syndrome I |
|
Myelomeningocele, Brachydactyly, Polydactyly, Syndactyly, Clinodactyly, Radial deviation of finge... |
OMIM:311200 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Small hand, Tapered finger, Short foot, Hip dislocation, Hip dysplasia |
OMIM:300968 |
Tarp Syndrome |
|
Hypoplasia of proximal radius, Short sternum, Talipes equinovarus, Postaxial polydactyly, Single ... |
ORPHA:2886 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Cat Eye Syndrome |
|
Pulmonic stenosis, Umbilical hernia, Absent radius, Microphthalmia |
OMIM:115470 |
Fryns Syndrome |
|
Short distal phalanx of finger, Microphthalmia, Joint contracture of the hand, Prominent fingerti... |
OMIM:229850 |
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome |
|
Small hand, Tapered finger, Portal hypertension, Microphthalmia, Pulmonary arterial hypertension,... |
OMIM:620005 |
Meier-Gorlin Syndrome 7 |
|
Bowing of the legs, 2-3 toe syndactyly, Preaxial polydactyly, Aplasia/Hypoplasia of the patella, ... |
OMIM:617063 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Clinodactyly of the 5th finger, Aortic valve stenosis, Arachnodactyly, Polydactyly, Aortic regurg... |
ORPHA:464306 |
Pierson Syndrome |
|
Microphthalmia, Retinal hemorrhage, Rieger anomaly, Hypoplasia of the iris, Hypoplasia of the cil... |
OMIM:609049 |
Trichothiodystrophy 1, Photosensitive |
|
Telangiectasia, Microphthalmia |
OMIM:601675 |
Miller-Dieker Lissencephaly Syndrome |
|
Clinodactyly of the 5th finger, Joint contracture of the hand, Deep palmar crease, Polydactyly, C... |
OMIM:247200 |
Encephalocraniocutaneous Lipomatosis |
|
Hypoplasia of the iris, Microphthalmia |
OMIM:613001 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Encephalocele, Microphthalmia |
OMIM:613150 |
Orofaciodigital Syndrome V |
|
Postaxial hand polydactyly, Sandal gap, Postaxial foot polydactyly, Postaxial polydactyly |
OMIM:174300 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Broad hallux, Cubitus valgus, Arachnodactyly, Microphthalmia |
OMIM:601552 |
Micro Syndrome |
|
Microphthalmia |
ORPHA:2510 |
Dubowitz Syndrome |
|
Clinodactyly of the 5th finger, Syndactyly, Single transverse palmar crease, Hypoplasia of the ir... |
OMIM:223370 |
Jacobsen Syndrome |
|
Macular hypoplasia, Clinodactyly of the 5th finger, Brachydactyly, Microphthalmia |
OMIM:147791 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Kenny-Caffey Syndrome, Type 2 |
|
Thickened cortex of long bones, Abnormality of the medullary cavity of the long bones, Microphtha... |
OMIM:127000 |
Pallister-Hall Syndrome |
|
Polydactyly affecting the 3rd finger, Overlapping toe, Bilateral postaxial polydactyly, Radial bo... |
ORPHA:672 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Preaxial polydactyly, Anencephaly, Micromelia, Aplastic clavicle |
OMIM:616546 |
Cranioectodermal Dysplasia 3 |
|
Brachydactyly, Syndactyly, Sandal gap, Postaxial polydactyly |
OMIM:614099 |
Legius Syndrome |
|
Pulmonic stenosis, Clinodactyly of the 5th finger, Paroxysmal atrial tachycardia, Polydactyly |
ORPHA:137605 |
Kinsship Syndrome |
|
Dislocated radial head, Polydactyly, Single transverse palmar crease, Mesomelia, Fibular hypoplas... |
OMIM:619297 |
Bardet-Biedl Syndrome 20 |
|
Postaxial hand polydactyly, Preaxial foot polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Clinodactyly of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Aplasia of the dist... |
OMIM:608670 |
Fanconi Anemia, Complementation Group L |
|
Absent radius, Bilateral talipes equinovarus, Absent thumb, Microphthalmia |
OMIM:614083 |
Cockayne Syndrome B |
|
Ivory epiphyses of the phalanges of the hand, Arrhythmia, Square pelvis bone, Hypoplastic pelvis,... |
OMIM:133540 |
Rubinstein-Taybi Syndrome 1 |
|
Dislocated radial head, Clinodactyly of the 5th finger, Talipes equinovarus, Flared iliac wing, P... |
OMIM:180849 |
Degcags Syndrome |
|
Talipes equinovarus, Pulmonic stenosis, Tachycardia, Syndactyly, Polydactyly, Short thumb, Genu v... |
OMIM:619488 |
Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly, Encephalocele, Umbilical hernia, Microphthalmia |
ORPHA:2166 |
Papillorenal Syndrome |
|
Hypertension, Microphthalmia |
OMIM:120330 |
Chromosome 13Q14 Deletion Syndrome |
|
Overlapping toe, Clinodactyly of the 5th finger, Single transverse palmar crease, Umbilical herni... |
OMIM:613884 |
Cranioectodermal Dysplasia 2 |
|
Brachydactyly, Polydactyly, Syndactyly, Postaxial hand polydactyly, Mesomelia, Rhizomelia, Clinod... |
OMIM:613610 |
Oculoauricular Syndrome |
|
Microphakia, Phthisis bulbi, Microphthalmia, Spina bifida occulta, Macular hypoplasia |
OMIM:612109 |
22Q11.2 Deletion Syndrome |
|