| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Digital Clubbing, Isolated Congenital |
|
Clubbing |
OMIM:119900 |
| Tendons, Extensor, Of Fingers, Anomalous Insertion Of |
|
Abnormality of finger |
OMIM:187390 |
| Trigger Thumb |
|
Abnormal thumb morphology |
OMIM:190410 |
| Syndactyly Type 2 |
|
2-3 toe syndactyly, 3-4 finger syndactyly, Symphalangism affecting the phalanges of the hand, San... |
ORPHA:93403 |
| Polydactyly, Postaxial, Type A6 |
|
Postaxial hand polydactyly, Broad phalanges of the 5th finger |
OMIM:615226 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Polydactyly, Postaxial, Type A9 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618219 |
| Polydactyly, Postaxial, Type A10 |
|
Postaxial polydactyly type A, Postaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:618498 |
| Oliver Syndrome |
|
Postaxial hand polydactyly |
OMIM:258200 |
| Polydactyly, Postaxial, Type A2 |
|
Postaxial hand polydactyly |
OMIM:602085 |
| Polydactyly, Postaxial, Type A7 |
|
Postaxial polydactyly |
OMIM:617642 |
| Syndactyly, Type Iv |
|
1-5 finger syndactyly, 2-3 toe syndactyly, Triphalangeal thumb, Polydactyly, Postaxial polydactyl... |
OMIM:186200 |
| Polydactyly, Preaxial I |
|
Preaxial hand polydactyly, Partial duplication of thumb phalanx, Radial deviation of thumb termin... |
OMIM:174400 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Preaxial polydactyly, Syndactyly, Postaxial hand polydactyly, Broad thumb |
OMIM:174200 |
| Syndactyly-Polydactyly-Earlobe Syndrome |
|
1-2 toe complete cutaneous syndactyly, Broad toe, Preaxial hand polydactyly, Bifid distal phalanx... |
OMIM:186350 |
| Polydactyly, Preaxial Iv |
|
3-4 finger syndactyly, Preaxial polydactyly, Duplication of thumb phalanx, 1-5 toe syndactyly, Dy... |
OMIM:174700 |
| Polydactyly, Preaxial Ii |
|
Opposable triphalangeal thumb, Duplication of phalanx of hallux, Syndactyly, Postaxial foot polyd... |
OMIM:174500 |
| Brachydactyly, Type C |
|
Short middle phalanx of finger, Talipes equinovarus, Short 1st metacarpal, Brachydactyly, Pseudoe... |
OMIM:113100 |
| Hallux Varus And Preaxial Polysyndactyly |
|
Preaxial hand polydactyly, Syndactyly, Hallux varus, Broad hallux |
OMIM:234280 |
| Synpolydactyly 1 |
|
4-5 toe syndactyly, 3-4 finger syndactyly, 2nd-5th toe middle phalangeal hypoplasia, Finger synda... |
OMIM:186000 |
| Polydactyly, Postaxial, Type A5 |
|
Cutaneous finger syndactyly, Syndactyly, Postaxial hand polydactyly, Metacarpal synostosis |
OMIM:263450 |
| Banki Syndrome |
|
Radial deviation of finger, Clinodactyly |
OMIM:109300 |
| Acrocephalopolysyndactyly Type Iv |
|
Ulnar deviation of the hand or of fingers of the hand, Joint contracture of the hand, Radial devi... |
OMIM:201020 |
| Dandy-Walker Malformation-Postaxial Polydactyly Syndrome |
|
Postaxial hand polydactyly |
ORPHA:1566 |
| Camptosynpolydactyly, Complex |
|
Cutaneous syndactyly, Syndactyly, Polydactyly, Camptodactyly |
OMIM:607539 |
| Syndactyly Type 1 |
|
Toe syndactyly, Symphalangism affecting the phalanges of the hand, Finger syndactyly |
ORPHA:93402 |
| Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Polydactyly, Brachydactyly |
OMIM:617405 |
| Preaxial Hallucal Polydactyly |
|
Preaxial hand polydactyly, Preaxial foot polydactyly |
OMIM:601759 |
| Acropectoral Syndrome |
|
Preaxial hand polydactyly, Finger syndactyly |
ORPHA:85203 |
| Santos Syndrome |
|
Metatarsus adductus, Polydactyly, Talipes equinovarus, Postaxial polydactyly, Genu valgum, Preaxi... |
OMIM:613005 |
| Scalp Defects And Postaxial Polydactyly |
|
Postaxial polydactyly type A |
OMIM:181250 |
| Congenital Radioulnar Synostosis |
|
Limited pronation/supination of forearm, Polydactyly, Talipes equinovarus, Abnormal morphology of... |
ORPHA:3269 |
| Ectrodactyly-Polydactyly Syndrome |
|
Symphalangism affecting the phalanges of the hand, Finger syndactyly, Abnormality of the metacarp... |
ORPHA:1892 |
| Syndactyly Type 4 |
|
Toe syndactyly, 1-5 finger syndactyly, Triphalangeal thumb, Foot polydactyly, Camptodactyly of fi... |
ORPHA:93405 |
| Ectrodactyly-Polydactyly |
|
Split hand, Postaxial hand polydactyly, Split foot |
OMIM:225290 |
| Syndactyly, Type Iii |
|
Absent middle phalanx of 5th finger, Syndactyly, Short 5th finger, 4-5 finger syndactyly |
OMIM:186100 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Preaxial Deficiency, Postaxial Polydactyly, And Hypospadias |
|
Brachydactyly, Short thumb, Short 2nd toe, Postaxial hand polydactyly |
OMIM:176305 |
| Synpolydactyly 2 |
|
Tarsal synostosis, Toe syndactyly, Polydactyly, Metacarpal synostosis, Carpal synostosis, Metatar... |
OMIM:608180 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Partial duplication of thumb phalanx, Preaxial polydactyly |
OMIM:605967 |
| Polydactyly, Postaxial, With Progressive Myopia |
|
Postaxial hand polydactyly |
OMIM:174310 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Craniosynostosis With Anomalies Of The Cranial Base And Digits |
|
Proximal placement of hallux, Absent middle phalanx of 2nd finger, Absent middle phalanx of 5th f... |
OMIM:218530 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Hallux valgus, Adducted thumb, Postaxial polydactyly, Short thumb, Overlapping fingers, Short dis... |
OMIM:618167 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Polydactyly |
OMIM:188740 |
| Gombo Syndrome |
|
Microphthalmia, Abnormal heart morphology, Radial deviation of finger, Brachydactyly, Clinodactyl... |
OMIM:233270 |
| Short-Rib Thoracic Dysplasia 2 With Or Without Polydactyly |
|
Broad palm, Rhizomelia, Short foot, Short metacarpal, Mesomelia, Postaxial hand polydactyly, Brac... |
OMIM:611263 |
| Bardet-Biedl Syndrome 12 |
|
Polydactyly |
OMIM:615989 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Postaxial Tetramelic Oligodactyly |
|
Oligodactyly, Ectrodactyly, Abnormality of the metacarpal bones, Abnormality of finger |
ORPHA:2730 |
| Postaxial Oligodactyly, Tetramelic |
|
Aplasia of the 5th metacarpal, Absent fifth metatarsal, Radial bowing, Cone-shaped epiphysis, Lun... |
OMIM:176240 |
| Triphalangeal Thumbs With Brachyectrodactyly |
|
Triphalangeal thumb, Split hand, Short 3rd toe, Short 2nd finger, Brachydactyly, Split foot |
OMIM:190680 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Polydactyly |
ORPHA:294975 |
| Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome |
|
Preaxial foot polydactyly, Triphalangeal thumb, Postaxial hand polydactyly |
ORPHA:2091 |
| Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies |
|
Bilateral triphalangeal thumbs, Preaxial foot polydactyly, Postaxial hand polydactyly |
OMIM:138790 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Polydactyly |
OMIM:605231 |
| Microphthalmia, Isolated 4 |
|
Postaxial polydactyly |
OMIM:613094 |
| Legg-Calvé-Perthes Disease |
|
Joint dislocation, Cartilage destruction, Short stature |
ORPHA:2380 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Clinodactyly, Polydactyly, Postaxial polydactyly |
OMIM:615984 |
| Brachydactyly-Syndactyly Syndrome |
|
Finger syndactyly, Syndactyly, Camptodactyly, Oligodactyly, Short digit, Short phalanx of finger,... |
OMIM:610713 |
| Split-Hand/Foot Malformation 4 |
|
Aplasia/Hypoplasia of the phalanges of the toes, Triphalangeal thumb, Aplasia/Hypoplasia of metat... |
OMIM:605289 |
| Split-Hand/Foot Malformation 6 |
|
Toe syndactyly, Hand oligodactyly, Finger syndactyly, Split hand, Foot oligodactyly, Split foot |
OMIM:225300 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Microphthalmia, Rocker bottom foot, Talipes equinovarus, Edema, Microcephaly |
OMIM:616570 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Talipes equinovarus, Hand clenching, Neonatal death, Hip dysplasia, Abnormal ... |
OMIM:611890 |
| Split-Hand/Foot Malformation 2 |
|
Split hand, Finger syndactyly, Short metacarpal, Short phalanx of finger, Split foot |
OMIM:313350 |
| Ulnar Hypoplasia With Lobster-Claw Deformity Of Feet |
|
Hypoplasia of the ulna, Syndactyly, Split foot, Short finger |
OMIM:314360 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Postaxial polydactyly |
OMIM:213010 |
| Tetramelic Monodactyly |
|
Foot monodactyly, Hand monodactyly, Split foot, Split hand |
OMIM:187510 |
| Meckel Syndrome, Type 11 |
|
Polydactyly |
OMIM:615397 |
| Tetramelic Monodactyly |
|
Oligodactyly, Split hand |
ORPHA:2564 |
| Chromosome 17P13.3, Telomeric, Duplication Syndrome |
|
Talipes equinovarus, Split hand, Oligodactyly, Ectrodactyly, Brachydactyly |
OMIM:612576 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type |
|
Genu varum, Lower-limb metaphyseal irregularity, Enlarged metaphyses, Severe short stature, Coxa ... |
OMIM:618728 |
| Orofaciodigital Syndrome Xviii |
|
Short middle phalanx of finger, Postaxial polydactyly, Preaxial polydactyly, Genu valgum, Sandal ... |
OMIM:617927 |
| Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Microphthalmia, Cortical dysplasia, Polymicrogyria, Microcephaly |
OMIM:615771 |
| Ulnar Hemimelia |
|
Limited elbow flexion, Radial club hand, Metacarpal synostosis, Short forearm, Ulnar deviated clu... |
ORPHA:93320 |
| Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Preaxial foot polydactyly, Polysyndactyly of hallux |
OMIM:235750 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Ventricular septal defect, Microphthalmia, Polydactyly, Megalencephaly, Cavum septum pellucidum, ... |
OMIM:602501 |
| Nevus Comedonicus Syndrome |
|
Toe syndactyly, Finger syndactyly, Preaxial polydactyly, Spina bifida, Spina bifida occulta, Micr... |
ORPHA:64754 |
| Heart-Hand Syndrome Type 2 |
|
Abnormality of the ulna, Short 5th metacarpal, Abnormality of the elbow, Aplasia/Hypoplasia of th... |
ORPHA:1350 |
| Carpenter Syndrome |
|
Toe syndactyly, Polydactyly, Talipes equinovarus, Finger syndactyly, Genu valgum, Brachydactyly, ... |
ORPHA:65759 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Hand muscle atrophy, Hand muscle weakness, Abnormal lower motor neuron morphology |
OMIM:607641 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Short stature, Metaphyseal irregularity, Streaky metaphyseal sclerosis, Carpal bone hypoplasia, I... |
OMIM:603546 |
| Camptobrachydactyly |
|
Congenital finger flexion contractures, Short toe, Syndactyly, Hand polydactyly, Brachydactyly |
OMIM:114150 |
| Laurin-Sandrow Syndrome |
|
Absent tibia, Triphalangeal thumb, Patellar aplasia, Fibular duplication, Absent radius, Short fo... |
OMIM:135750 |
| Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology |
OMIM:183020 |
| Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Azoospermia, Leukoencephalopathy, Abnormal motor neuron morphology, Abnormality of thalamus morph... |
OMIM:613724 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Bardet-Biedl Syndrome 19 |
|
Polydactyly |
OMIM:615996 |
| Meckel Syndrome, Type 4 |
|
Meningocele, Ventricular septal defect, Microphthalmia, Anencephaly, Bowing of the long bones, At... |
OMIM:611134 |
| Mmep Syndrome |
|
Ventricular septal defect, Microphthalmia, Triphalangeal thumb, Microcephaly, Split foot |
ORPHA:3434 |
| Feingold Syndrome 2 |
|
2-3 toe syndactyly, Short stature, 3-4 toe syndactyly, Short middle phalanx of the 5th finger, Sh... |
OMIM:614326 |
| Short Stature, Dauber-Argente Type |
|
Short stature, Decreased fibular diameter, Long fingers, Arachnodactyly, Osteopenia, Reduced bone... |
OMIM:619489 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Aplasia/Hypoplasia of fingers, Talipes equinovarus, Hypoplasia of the radius, Finger syndactyly, ... |
OMIM:228930 |
| Spondyloepiphyseal Dysplasia Tarda |
|
Abnormality of the tibial plateaux, Dysplasia of the femoral head, Knee osteoarthritis, Increased... |
ORPHA:93284 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Abnormal motor neuron morphology |
DECIPHER:29 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 3 |
|
Microphthalmia, Microcephaly |
OMIM:616335 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Microphthalmia, Polydactyly, Anencephaly, Bowing of the long bones, Postaxial hand p... |
OMIM:603194 |
| Biemond Syndrome Type 2 |
|
Hypospadias, Short stature, Preaxial polydactyly, Hydrocephalus, Delayed puberty |
ORPHA:141333 |
| Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
| Short Stature, Brussels Type |
|
Horseshoe kidney, Growth delay, Short stature, Delayed epiphyseal ossification, Calcification of ... |
ORPHA:2867 |
| Hypoplastic Tibiae-Postaxial Polydactyly Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular duplicati... |
ORPHA:3332 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Abnormal lower motor ... |
OMIM:602433 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia, Neural tube defect |
OMIM:600776 |
| Joubert Syndrome 18 |
|
Horseshoe kidney, Intrauterine growth retardation, Polydactyly, Camptodactyly, Joint laxity |
OMIM:614815 |
| Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Foot polydactyly, Postaxial hand polydactyly |
ORPHA:2155 |
| Acromesomelic Dysplasia, Grebe Type |
|
Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Fibular hypoplasia,... |
ORPHA:2098 |
| Laurin-Sandrow Syndrome |
|
Tarsal synostosis, Toe syndactyly, Absent tibia, Triphalangeal thumb, Aplasia/Hypoplasia of the t... |
ORPHA:2378 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial foot polydactyly, Postaxial hand polyda... |
OMIM:615986 |
| Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
| Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Mesomelic leg shortening, Polysyndactyly of hallux, Metatarsa... |
ORPHA:2756 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4 |
|
Joint contracture of the hand, Abnormal lower motor neuron morphology, Talipes equinovarus |
OMIM:611067 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Postaxial polydactyly, Radial deviation of finger, Brachydactyly, Central Y-shape... |
OMIM:277170 |
| Congenital Toxoplasmosis |
|
Microphthalmia, Ascites, Cardiomegaly, Hydrocephalus, Cerebral calcification, Microcephaly |
ORPHA:858 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Postaxial polydactyly, Short metatarsal, Limb undergrowth, Sandal gap, Short metacarpal, Short di... |
OMIM:617102 |
| Ollier Disease |
|
Abnormality of the metaphysis, Osteolysis, Abnormal cartilage morphology, Joint stiffness, Microm... |
ORPHA:296 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, Short stature, Delayed closure of the anterior fontanelle, Upper limb asymmetry, Pos... |
ORPHA:231140 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Leukoencephalopathy, Cerebral atrophy, Basal ganglia calcification, Hypoplasia o... |
OMIM:221770 |
| Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, Short stature, Long fingers, Overlapping fingers, Hydrocephalus,... |
OMIM:300960 |
| Orofaciodigital Syndrome Xvii |
|
Renal hypoplasia, Polydactyly, Short stature, Prominent metopic ridge, Micropenis, Partial duplic... |
OMIM:617926 |
| Xk Aprosencephaly Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormal morphology of the radius, Polyhydramnios, Atr... |
ORPHA:3469 |
| Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Amyotrophic later... |
ORPHA:52430 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal ilium morphology, Hypospadias, Short ribs, Reduced bone mineral density, Urogenital sinu... |
ORPHA:1505 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Abnormality of femur morphology, Patellar aplasia, Fibular hypoplasia, Finger syndactyly, Split h... |
ORPHA:3329 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8 |
|
Microphthalmia, Type II lissencephaly, Hydrocephalus |
OMIM:614830 |
| Macrosomia With Microphthalmia, Lethal |
|
Microphthalmia |
OMIM:248110 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
| Nanophthalmos 1 |
|
Bilateral microphthalmos |
OMIM:600165 |
| Microphthalmia, Isolated 7 |
|
Microphthalmia |
OMIM:613704 |
| Nanophthalmos 2 |
|
Microphthalmia |
OMIM:609549 |
| Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Holoprosencephaly, Anophthalmia, Microphthalmia, Bilateral microphthalmos |
OMIM:611638 |
| Microphthalmia, Isolated, With Cataract 1 |
|
Microphthalmia |
OMIM:156850 |
| Nanophthalmos 4 |
|
Microphthalmia |
OMIM:615972 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of... |
ORPHA:1528 |
| Hydrolethalus Syndrome 2 |
|
Preaxial polydactyly, Postaxial polydactyly |
OMIM:614120 |
| Joubert Syndrome 17 |
|
Syndactyly, Polydactyly |
OMIM:614615 |
| Frontonasal Dysplasia 1 |
|
Microphthalmia, Joint contracture of the hand, Radial deviation of finger, Pericallosal lipoma, T... |
OMIM:136760 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Microphthalmia, Hand clenching, Long fingers, Bullet-shaped distal phalanx of the... |
ORPHA:1617 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Neuronal loss in the cerebral cortex, Abnormal mitochondrial morphology, Abnormal lower motor neu... |
ORPHA:275872 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Megalencephaly, Postaxial polydactyly, Thick corpus callosum, Abnormal... |
OMIM:603387 |
| Hartsfield Syndrome |
|
Microphthalmia, Lobar holoprosencephaly, Aplasia/Hypoplasia of the radius, Split hand, Aplasia/Hy... |
ORPHA:2117 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Kniest Dysplasia |
|
Hip contracture, Flattened, squared-off epiphyses of tubular bones, Delayed epiphyseal ossificati... |
OMIM:156550 |
| Lethal Kniest-Like Dysplasia |
|
Broad long bones, Abnormal cartilage matrix, Anterior rib cupping, Talipes equinovarus, Severe sh... |
ORPHA:2347 |
| Primary Lateral Sclerosis, Juvenile |
|
Cerebral cortical atrophy, Abnormal upper motor neuron morphology |
OMIM:606353 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Microphthalmia, Rocker bottom foot, Second metatarsal posteriorly placed, Elbow flexion contractu... |
OMIM:214150 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Decreased calvarial ossification, 2-3 toe syndactyly, Radial bowing, Postaxial polydactyly, Ulnar... |
OMIM:617866 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Microphthalmia, Lissencephaly, Left ventricular hypertrophy, Pachygyria, Hydrocephalus, Agyria, A... |
OMIM:613153 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Polydactyly, Short tibia |
OMIM:300484 |
| Neurodevelopmental, Jaw, Eye, And Digital Syndrome |
|
2-3 toe syndactyly, Lens coloboma, Microphthalmia, Umbilical hernia, Sandal gap, Pulmonic stenosi... |
OMIM:618914 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Hypospadias, Renal hypoplasia, Polydactyly, Hypoplastic scapulae, Postaxial polydactyly, Short st... |
OMIM:614091 |
| Tibial Hemimelia |
|
Cutaneous finger syndactyly, Aplasia of the 4th metacarpal, Absent tibia, Radial club hand, Talip... |
ORPHA:93322 |
| Meckel Syndrome, Type 8 |
|
Microphthalmia, Polydactyly, Talipes equinovarus, Anophthalmia, Postaxial hand polydactyly, Micro... |
OMIM:613885 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Tibial bowing, Short finger, Metaphyseal widening, Rhizomelia, Metaphyseal irregularity, Hypoplas... |
OMIM:608940 |
| Hydrolethalus |
|
Arrhinencephaly, Microphthalmia, Anencephaly, Anophthalmia, Polyhydramnios, Absent septum pelluci... |
ORPHA:2189 |
| Orofaciodigital Syndrome Xv |
|
Broad hallux, Postaxial polydactyly |
OMIM:617127 |
| Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnor... |
OMIM:205100 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Horizontal ribs, Nephrocalcinosis, Postaxial polydactyly, Short long bone, Brachydactyly |
OMIM:615633 |
| Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormality of epiphysis morphology, Bowing of the lon... |
ORPHA:93267 |
| Mosaic Trisomy 9 |
|
Dextrocardia, Ventricular septal defect, Microphthalmia, Talipes equinovarus, Rocker bottom foot,... |
ORPHA:99776 |
| Pelvis-Shoulder Dysplasia |
|
Hydranencephaly, Talipes equinovarus, Absent proximal finger flexion creases, Prominent protrudin... |
ORPHA:2839 |
| Atelosteogenesis, Type Ii |
|
Short middle phalanx of finger, Short greater sciatic notch, Talipes equinovarus, Limb undergrowt... |
OMIM:256050 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
| Three M Syndrome 1 |
|
Hypospadias, Intrauterine growth retardation, Growth delay, Short stature, Joint dislocation, Sho... |
OMIM:273750 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypospadias, Intrauterine growth retardation, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| 17Q12 Microduplication Syndrome |
|
Toe syndactyly, Microphthalmia, Polyhydramnios, Finger syndactyly, Atrial septal defect, Cortical... |
ORPHA:261272 |
| Neu-Laxova Syndrome 1 |
|
Joint contracture of the hand, Small placenta, Finger syndactyly, Patent ductus arteriosus, Campt... |
OMIM:256520 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Broad hallux phalanx, Broad thumb, Finger syndactyly, Pachygyria, Mac... |
ORPHA:2211 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Hypospadias, Intrauterine growth retardation, Polydactyly, Small placenta, Short 5th finger, Synd... |
ORPHA:397590 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Polydactyly, Short stature, Short ribs, Stage 5 chronic kidney disease, Short long bone, Brachyda... |
OMIM:613819 |
| Cousin Syndrome |
|
2-3 toe syndactyly, Talipes equinovarus, Prominent protruding coccyx, Joint contracture of the ha... |
OMIM:260660 |
| Joubert Syndrome 20 |
|
Syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Craniotelencephalic Dysplasia |
|
Arrhinencephaly, Microphthalmia, Optic nerve hypoplasia, Absent septum pellucidum, Lissencephaly,... |
OMIM:218670 |
| Adams-Oliver Syndrome |
|
Abnormal pulmonary valve morphology, Microphthalmia, Ascites, Abnormality of the upper limb, Fing... |
ORPHA:974 |
| Congenital Varicella Syndrome |
|
Microcephaly, Microphthalmia, Micromelia, Cerebral cortical atrophy |
ORPHA:291 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Simplified gyral pattern, Microphthalmia, Microcephaly, Cerebral atrophy |
OMIM:616171 |
| Pierpont Syndrome |
|
Abnormal cortical gyration, Microphthalmia, Short finger, Primary microcephaly, Short toe, Excess... |
ORPHA:487825 |
| Autosomal Recessive Kenny-Caffey Syndrome |
|
Cortical thickening of long bone diaphyses, Intrauterine growth retardation, Thin ribs, Growth de... |
ORPHA:93324 |
| Cofs Syndrome |
|
Microphthalmia, Camptodactyly of finger, Cerebral calcification, Cerebral cortical atrophy, Micro... |
ORPHA:1466 |
| Larsen-Like Syndrome, Lethal Type |
|
Abnormal cartilage matrix, Multiple joint dislocation, Neonatal death, Joint dislocation, Tracheo... |
OMIM:245650 |
| Otopalatodigital Syndrome, Type Ii |
|
Nonossified fifth metatarsal, Hypospadias, Short stature, Short metatarsal, Short ribs, Postnatal... |
OMIM:304120 |
| Ivic Syndrome |
|
Upper limb undergrowth, Short clavicles, Triphalangeal thumb, Small thenar eminence, Hypoplasia o... |
OMIM:147750 |
| Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome |
|
Microphthalmia, Type II lissencephaly, Hydrocephalus |
ORPHA:324416 |
| Hypomelia With Mullerian Duct Anomalies |
|
Postaxial hand polydactyly, Split hand |
OMIM:146160 |
| Pierpont Syndrome |
|
Broad palm, Microphthalmia, Short finger, Short foot, Short palm, Short toe, Deep palmar crease, ... |
OMIM:602342 |
| Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
Microphthalmia, Hypoplastic iliac wing, Metaphyseal cupping of metacarpals, Rhizomelia, Distal sh... |
OMIM:300863 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly |
OMIM:619582 |
| Chromosome 1Q41-Q42 Deletion Syndrome |
|
Holoprosencephaly, Microcephaly, Microphthalmia, Talipes equinovarus |
OMIM:612530 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Short finger, Foot polydactyly, Brachydactyly, Hand polyda... |
OMIM:258860 |
| Cerebrooculofacioskeletal Syndrome 2 |
|
Microcephaly, Microphthalmia, Rocker bottom foot, Camptodactyly of finger |
OMIM:610756 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Short... |
OMIM:615994 |
| Lethal Congenital Contracture Syndrome 1 |
|
Edema, Paucity of anterior horn motor neurons, Neonatal death |
OMIM:253310 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616439 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616437 |
| Warburg Micro Syndrome 1 |
|
Perisylvian polymicrogyria, Microphthalmia, Overlapping toe, Cerebral atrophy, Hypoplasia of the ... |
OMIM:600118 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Microphthalmia, Agenesis of corpus callosum, Microcephaly, Cerebral atrophy |
OMIM:274270 |
| Joubert Syndrome 10 |
|
Growth delay, Postaxial polydactyly |
OMIM:300804 |
| Pelvis-Shoulder Dysplasia |
|
Short clavicles, Microphthalmia, Hypoplastic scapulae, Hypoplastic acetabulae, Congenital hip dis... |
OMIM:169550 |
| Multiple Osteochondromas |
|
Short lower limbs, Abnormal lower limb bone morphology, Abnormality of the knee, Femoroacetabular... |
ORPHA:321 |
| Bresek Syndrome |
|
Microphthalmia, Neonatal death, Optic nerve hypoplasia, Hydrocephalus, Postaxial hand polydactyly... |
ORPHA:85284 |
| 3P25.3 Microdeletion Syndrome |
|
Ventricular septal defect, Microphthalmia, Postaxial polydactyly, Tapered finger, Cerebral white ... |
ORPHA:435638 |
| Bardet-Biedl Syndrome 8 |
|
Polydactyly |
OMIM:615985 |
| Progressive Non-Fluent Aphasia |
|
Frontotemporal cerebral atrophy, Temporal cortical atrophy, Abnormal lower motor neuron morpholog... |
ORPHA:100070 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Horizontal ribs, Absent tibia, Cone-shaped epiphysis, Talipes equinovarus, Postaxial polydactyly,... |
OMIM:613091 |
| Mosaic Trisomy 1 |
|
Deviation of the 5th toe, Broad toe, Complete duplication of thumb phalanx, Polymicrogyria, Campt... |
ORPHA:1692 |
| Temtamy Syndrome |
|
Genu varum, Microphthalmia, Aplasia/Hypoplasia of the corpus callosum, Short toe, Clinodactyly of... |
ORPHA:1777 |
| Joubert Syndrome 22 |
|
2-3 toe syndactyly, Temporal cortical atrophy, Microphthalmia, Postaxial foot polydactyly, Postax... |
OMIM:615665 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia, Absent septum pellucidu... |
OMIM:182230 |
| Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet |
|
Clinodactyly of the 5th finger, Complete duplication of the 1st metatarsal, Preaxial polydactyly |
OMIM:129540 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial hand polydactyly |
OMIM:607361 |
| Monosomy 18P |
|
Microphthalmia, Holoprosencephaly, Brachydactyly, Microcephaly, Lymphedema |
ORPHA:1598 |
| Familial Calcium Pyrophosphate Deposition |
|
Chondrocalcinosis, Joint dislocation, Arthritis, Calcification of cartilage, Limitation of joint ... |
ORPHA:1416 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Tibial bowing, Hand oligodactyly, Microphthalmia, Talipes equinovarus, Camptodact... |
OMIM:206920 |
| Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Meckel Syndrome, Type 5 |
|
Microphthalmia, Anencephaly, Bowing of the long bones, Postaxial foot polydactyly, Postaxial hand... |
OMIM:611561 |
| Au-Kline Syndrome |
|
Postaxial polydactyly, Craniosynostosis, Hip dysplasia, Deep palmar crease, Overlapping toe |
OMIM:616580 |
| Brachydactyly, Coloboma, And Anterior Segment Dysgenesis |
|
Microphthalmia, Syndactyly, Clinodactyly, Brachydactyly |
OMIM:610023 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Microphthalmia, Optic nerve hypoplasia, Leukoencephalopathy, Hydrocephalus, Polymicrogyria, Type ... |
OMIM:615181 |
| Curry-Jones Syndrome |
|
Cutaneous finger syndactyly, Microphthalmia, Megalencephaly, Broad thumb, Hemimegalencephaly, Syn... |
OMIM:601707 |
| Kniest Dysplasia |
|
Abnormal bone structure, Short long bone, Laryngotracheomalacia, Delayed epiphyseal ossification,... |
ORPHA:485 |
| Adams-Oliver Syndrome 2 |
|
Microphthalmia, Oligohydramnios, Polymicrogyria, Cerebral atrophy, Microcephaly, Single transvers... |
OMIM:614219 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral atrophy |
OMIM:105550 |
| Dyggve-Melchior-Clausen Disease |
|
Genu varum, Talipes equinovarus, Short metatarsal, Prominent calcaneus, Enlargement of the costoc... |
OMIM:223800 |
| Otopalatodigital Syndrome Type 2 |
|
Hypospadias, Hydrocephalus, Increased bone mineral density, Camptodactyly of finger, Bowing of th... |
ORPHA:90652 |
| X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Microphthalmia, Abnormality of the calcaneus, Hypoplastic iliac wing, Metaphyseal cupping of meta... |
ORPHA:163966 |
| Microcephaly-Microcornea Syndrome, Seemanova Type |
|
Microphthalmia, Microcephaly |
ORPHA:2528 |
| Microphthalmia-Microtia-Fetal Akinesia Syndrome |
|
Microphthalmia, Symphalangism affecting the phalanges of the hand, Patent ductus arteriosus, Poly... |
ORPHA:2547 |
| Pseudotrisomy 13 Syndrome |
|
Dextrocardia, Complete atrioventricular canal defect, 2-3 toe syndactyly, Ventricular septal defe... |
OMIM:264480 |
| Endocrine-Cerebroosteodysplasia |
|
Hypospadias, Polydactyly, Ulnar deviation of the hand or of fingers of the hand, Postaxial polyda... |
OMIM:612651 |
| Warburg Micro Syndrome 4 |
|
Perisylvian polymicrogyria, Microphthalmia, Secondary microcephaly, Hypoplasia of the corpus call... |
OMIM:615663 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microphthalmia |
ORPHA:2432 |
| Warburg Micro Syndrome 3 |
|
Microphthalmia, Microcephaly, Clinodactyly of the 5th finger, Polymicrogyria, Secondary microceph... |
OMIM:614222 |
| Microphthalmia, Isolated, With Coloboma 4 |
|
Microphthalmia |
OMIM:251505 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Ascites, Hypoplasia of the fovea, Abnormal heart morphology, Edema, Hydrocephalus, U... |
ORPHA:93400 |
| Microphthalmia, Isolated, With Coloboma 6 |
|
Optic disc hypoplasia, Bilateral microphthalmos, Hypoplasia of the fovea |
OMIM:613703 |
| Microcephaly-Micromelia Syndrome |
|
Abnormality of the hand, Microphthalmia, Talipes equinovarus, Simplified gyral pattern, Absent ra... |
OMIM:251230 |
| Fanconi Anemia, Complementation Group G |
|
Abnormal thumb morphology, Microphthalmia, Microcephaly |
OMIM:614082 |
| Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies |
|
Microphthalmia |
OMIM:251700 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Intrauterine growth retardation, Postaxial polydactyly, Preaxial polydactyly, Micropenis, Overlap... |
OMIM:618142 |
| Meckel Syndrome, Type 10 |
|
Hypospadias, Anencephaly, Postaxial polydactyly, Renal cyst, Micropenis |
OMIM:614175 |
| Trisomy 18 |
|
Ventricular septal defect, Microphthalmia, Anencephaly, Holoprosencephaly, Abnormality of the upp... |
ORPHA:3380 |
| Duane-Radial Ray Syndrome |
|
Aplasia of metacarpal bones, Ventricular septal defect, Triphalangeal thumb, Microphthalmia, Opti... |
OMIM:607323 |
| Microphthalmia, Isolated, With Coloboma 7 |
|
Microphthalmia |
OMIM:614497 |
| Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Interphalangeal joint contracture of finger, Abnormal anterior horn cell morphology, Abnormal per... |
ORPHA:1145 |
| Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Talipes equinovarus, Tapered finger, Nephrolithiasis, Hip dysplasia, Postnatal growth retardation... |
OMIM:617219 |
| Basal Cell Nevus Syndrome |
|
Cardiac rhabdomyoma, Irregular ossification of hand bones, Microphthalmia, Polydactyly, Palmar pi... |
OMIM:109400 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Genu varum, Epiphyseal dysplasia, Toe clinodactyly, Postnatal growth ... |
OMIM:615777 |
| Pelger-Huet Anomaly |
|
Upper limb undergrowth, Short 3rd metacarpal, Short 5th metacarpal, Polydactyly, Mild short statu... |
OMIM:169400 |
| Fanconi Anemia, Complementation Group I |
|
Ventricular septal defect, Microphthalmia, Colpocephaly, Optic nerve hypoplasia, Hypoplasia of th... |
OMIM:609053 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:602099 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
| Joubert Syndrome 16 |
|
Polydactyly |
OMIM:614465 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Ventricular septal defect, Peau d'orange, Postaxial polydactyly, Pate... |
OMIM:614576 |
| Vacterl With Hydrocephalus |
|
Arrhinencephaly, Microphthalmia, Anophthalmia, Polyhydramnios, Hypoplasia of the radius, Hip disl... |
ORPHA:3412 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Bicuspid aortic valve, 2-3 toe syndactyly, Truncus arteriosus, Broad hallux, Ventricular septal d... |
ORPHA:508498 |
| Joubert Syndrome 15 |
|
Nephronophthisis, Micropenis, Polydactyly |
OMIM:614464 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Myelomeningocele, Polydactyly, Hypothalamic hamartoma, Abnormal heart... |
OMIM:311200 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Abnormal upper motor neuron morphology |
OMIM:607694 |
| 9Q21.13 Microdeletion Syndrome |
|
Hydronephrosis, Polydactyly, Craniosynostosis, Hip dysplasia, Postnatal growth retardation |
ORPHA:531151 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii |
|
Hypospadias, Short middle phalanx of finger, Short 1st metacarpal, Postnatal growth retardation, ... |
OMIM:210720 |
| Microphthalmia With Limb Anomalies |
|
Arrhinencephaly, Talipes equinovarus, Finger syndactyly, Hydrocephalus, Short long bone, Short ti... |
ORPHA:1106 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Microphthalmia, Tapered finger, Long fingers, Short palm, Hypoplasia of the corpus callosum, Micr... |
OMIM:616734 |
| Congenital Rubella Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormality of the metaphysis, Patent ductus arteriosu... |
ORPHA:290 |
| Pallister-Hall Syndrome |
|
Toe syndactyly, Ventricular septal defect, Microphthalmia, Mesoaxial hand polydactyly, Oligodacty... |
OMIM:146510 |
| Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type |
|
Bilateral microphthalmos, Cervical spina bifida |
OMIM:600122 |
| Moebius Syndrome |
|
Microphthalmia, Talipes equinovarus, Hand clenching, Lower limb undergrowth, Aplasia/Hypoplasia i... |
OMIM:157900 |
| Trisomy 13 |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Patent d... |
ORPHA:3378 |
| Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Diffuse white matter abnormalities, Agenesis of corpus callosum, Microphthalmia, Optic nerve hypo... |
ORPHA:370959 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microphthalmia, Lissencephaly, Abnormally large globe, Progressive microcephaly, Hydrocephalus, A... |
OMIM:615249 |
| Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech |
|
Small epiphyses, Hypoplastic iliac wing, Tapered metacarpals, Tapered phalanx of finger, Short ph... |
OMIM:611717 |
| Macrodactyly |
|
Macrodactyly |
OMIM:155500 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Hydronephrosis, Tarsal stippling, Polydactyly, Postaxial polydactyly, Epiphyseal stippling, Stipp... |
OMIM:302960 |
| Focal Dermal Hypoplasia |
|
Toe syndactyly, Ventricular septal defect, Short clavicles, Microphthalmia, Hypoplasia of the iri... |
ORPHA:2092 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Genu varum, Tibial bowing, Thin bony cortex, Subperiosteal bone resorption, Enlargement of the wr... |
ORPHA:289157 |
| Microphthalmia, Syndromic 12 |
|
Anophthalmia, Ventricular septal defect, Hypoplastic left atrium, Microphthalmia |
OMIM:615524 |
| Dextrocardia With Unusual Facies And Microphthalmia |
|
Dextrocardia, Anophthalmia, Microphthalmia |
OMIM:221950 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Microphthalmia, Microcephaly |
OMIM:278780 |
| Chromosome 13Q33-Q34 Deletion Syndrome |
|
Microphthalmia, Anencephaly, Talipes equinovarus, Tapered finger, Patent ductus arteriosus, Pulmo... |
OMIM:619148 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Talipes equinovarus, Postaxial... |
OMIM:311900 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Horizontal ribs, Postaxial polydactyly, Short ribs, Hypoplasia of the radius, Syndactyly, Microme... |
OMIM:617895 |
| Curry-Jones Syndrome |
|
Toe syndactyly, Microphthalmia, Abnormality of thumb phalanx, Finger syndactyly, Foot polydactyly... |
ORPHA:1553 |
| Acromelic Frontonasal Dysostosis |
|
Polydactyly, Talipes equinovarus, Preaxial polydactyly, Syndactyly, Hypopituitarism, Hypoplasia o... |
OMIM:603671 |
| Nanophthalmos |
|
Microphthalmia |
ORPHA:35612 |
| Sandestig-Stefanova Syndrome |
|
Microphthalmia, Rocker bottom foot, Perimembranous ventricular septal defect, Primary microcephal... |
OMIM:618804 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Short stature, Tapered finger, Postaxial polydactyly, Postnatal growth retardation, Prominent met... |
OMIM:613792 |
| 1Q21.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Microphthalmia, Talipes equinovarus, Patent ductus arterios... |
ORPHA:250989 |
| Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome |
|
Foot polydactyly, Split hand, Phocomelia |
ORPHA:3004 |
| Rhombencephalosynapsis |
|
Fusion of the left and right thalami, Polydactyly, Septo-optic dysplasia, Complete duplication of... |
ORPHA:59315 |
| Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome |
|
Microphthalmia |
ORPHA:1574 |
| Japanese Encephalitis |
|
Talipes equinovarus, Abnormal cerebral morphology, Abnormal caudate nucleus morphology, Abnormal ... |
ORPHA:79139 |
| Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology |
OMIM:263570 |
| Ehlers-Danlos Syndrome, Beasley-Cohen Type |
|
Hip dislocation, Bilateral microphthalmos |
OMIM:608763 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Amyotrophic lateral sclerosis, Proximal muscle weakness in upper limbs, Abnormal lower motor neur... |
OMIM:613954 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
| Microcephaly And Chorioretinopathy, Autosomal Recessive, 1 |
|
Microphthalmia, Simplified gyral pattern, Pachygyria, Cerebral atrophy, Microcephaly |
OMIM:251270 |
| Gracile Bone Dysplasia |
|
Microphthalmia, Ascites, Aniridia, Hydrocephalus, Slender long bone, Flared metaphysis, Brachydac... |
OMIM:602361 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Anophthalmia, Patent ductus arterio... |
ORPHA:77298 |
| Oculocerebrocutaneous Syndrome |
|
Microphthalmia, Anophthalmia, Congenital hip dislocation, Hypoplasia of the corpus callosum, Agen... |
OMIM:164180 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Ventricular septal defect, Microphthalmia, Postaxial polydactyly, Abnormal he... |
ORPHA:404440 |
| Premature Ovarian Failure 12 |
|
Microphthalmia |
OMIM:616947 |
| Oculofaciocardiodental Syndrome |
|
Broad palm, 2-3 toe syndactyly, Mitral valve prolapse, Microphthalmia, Hammertoe, Cubitus valgus,... |
ORPHA:2712 |
| Cerebrooculofacioskeletal Syndrome 4 |
|
Adducted thumb, Rocker bottom foot, Flexion contracture of toe, Dislocated radial head, Simplifie... |
OMIM:610758 |
| Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Triangular shaped distal phalanges of the hand, Abnormal diaphysis morphology, Generalized bone d... |
ORPHA:73230 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Microphthalmia, Cerebral cortical atrophy, Camptodactyly of finger |
ORPHA:48431 |
| Cataract 11, Multiple Types |
|
Microphthalmia |
OMIM:610623 |
| Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Abnormal cartilage matrix, Intrauterine growth retardation, Talipes equinovarus, Epiphyseal stipp... |
ORPHA:86822 |
| Cole-Carpenter Syndrome 2 |
|
Thin ribs, Short stature, Wormian bones, Osteopenia, Narrow iliac wing, Postnatal growth retardat... |
OMIM:616294 |
| Heart And Brain Malformation Syndrome |
|
Ventricular septal defect, Microphthalmia, Hand clenching, Polyhydramnios, Aplasia/Hypoplasia of ... |
OMIM:616920 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Dilated third ventricle, 2-3 toe syndactyly, Ventricular septal defect, Microphthalmia, Adducted ... |
ORPHA:464738 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Hypoplastic left heart, Abnormal cardiac septum morphology, Clinodactyly of the 5th ... |
OMIM:301022 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Short stature, Postaxial polydactyly, Short ribs, Preaxial polydactyly, Brachydactyly, Syndactyly... |
OMIM:615503 |
| Encephalocraniocutaneous Lipomatosis |
|
Ventricular septal defect, Microphthalmia, Hypoplasia of the iris, Subvalvular aortic stenosis, A... |
OMIM:613001 |
| Joubert Syndrome 14 |
|
Microphthalmia, Hydrocephalus, Postaxial polydactyly |
OMIM:614424 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Proximal femoral metaphyseal irregularity, Dilated third ventricle, Abnormal acetabu... |
ORPHA:397715 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Hypospadias, Broad distal phalanx of finger, Sandal gap, Postaxial polydactyly |
OMIM:615761 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Proximal renal tubular acidosis, Postaxial polydactyly |
OMIM:615824 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Anencephaly, Postaxial polydactyly, Aplastic clavicle, Polyhydramnios, Preaxial polydactyly, Atri... |
OMIM:616546 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Absent tibia, Talipes equinovarus, Short metatarsal, Proximal placement of thumb, Hypoplasia of t... |
OMIM:609945 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Wide anterior fontanel, Clinodactyly, Brachydactyly |
ORPHA:313781 |
| Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Microphthalmia, Cardiomegaly, Patent ductus arteriosus, Atrial septal ... |
OMIM:618652 |
| Walker-Warburg Syndrome |
|
Abnormal cortical gyration, Microphthalmia, Anophthalmia, Absent septum pellucidum, Pachygyria, M... |
ORPHA:899 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Meckel Syndrome, Type 1 |
|
Agenesis of corpus callosum, Anencephaly, Microphthalmia, Bowing of the long bones, Clinodactyly,... |
OMIM:249000 |
| Baraitser-Winter Syndrome 1 |
|
Bicuspid aortic valve, Microphthalmia, Duplication of phalanx of hallux, Patent ductus arteriosus... |
OMIM:243310 |
| Yunis-Varon Syndrome |
|
Arrhinencephaly, Short middle phalanx of finger, Syndactyly, Hydrocephalus, Short toe, Abnormal p... |
ORPHA:3472 |
| Fanconi Anemia |
|
Aplasia/Hypoplasia of fingers, Abnormality of the ulna, Triphalangeal thumb, Aplasia/Hypoplasia o... |
ORPHA:84 |
| 2Q31.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Abnormality of the ulna, Toe syndactyly, Ventricular septal defect, Abnorma... |
ORPHA:251014 |
| Multiple Benign Circumferential Skin Creases On Limbs |
|
Microphthalmia, Edema, Upper limb asymmetry, Umbilical hernia, Microcephaly |
ORPHA:2505 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Microphthalmia, Clinodactyly of the 5th toe, Patent ductus arteriosus,... |
OMIM:244300 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Microcephaly 20, Primary, Autosomal Recessive |
|
Microphthalmia, Small cerebral cortex, Optic nerve hypoplasia, Simplified gyral pattern, Microcep... |
OMIM:617914 |
| Joubert Syndrome 37 |
|
Hydronephrosis, Short stature, Postaxial polydactyly, Joint hypermobility, Micropenis, Prominent ... |
OMIM:619185 |
| Senior-Loken Syndrome 9 |
|
Tubulointerstitial nephritis, Polydactyly, Hypoplasia of the femoral head, Nephronophthisis, Stag... |
OMIM:616629 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Abnormal cortical gyration, Arrhinencephaly, Agenesis of corpus callosum, Truncus arteriosus, Mic... |
ORPHA:2538 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Microcephaly, Split foot |
OMIM:601349 |
| Hydrolethalus Syndrome 1 |
|
Abnormal cortical gyration, Complete atrioventricular canal defect, Arrhinencephaly, Upper limb u... |
OMIM:236680 |
| Microphthalmia, Isolated 5 |
|
Microphthalmia, Cystoid macular edema |
OMIM:611040 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Microphthalmia, Holoprosencephaly, Lissencephaly, Pulmonic stenosis, Pach... |
OMIM:253800 |
| Faciothoracogenital Syndrome |
|
Microphthalmia |
OMIM:227320 |
| Foveal Hypoplasia 2 |
|
Microphthalmia, Hypoplasia of the fovea |
OMIM:609218 |
| Martsolf Syndrome 1 |
|
Metatarsus adductus, Slender ulna, Microphthalmia, Talipes equinovarus, Cardiomyopathy, Short met... |
OMIM:212720 |
| Stevenson-Carey Syndrome |
|
Microphthalmia, Joint contracture of the hand, Atrial septal defect, Hip dysplasia, Camptodactyly... |
OMIM:611961 |
| Suleiman-El-Hattab Syndrome |
|
Ventricular septal defect, Polydactyly, Brachydactyly, Atrial septal defect, Patent foramen ovale... |
OMIM:618950 |
| Joubert Syndrome 7 |
|
Nephronophthisis, Renal cyst, Postaxial hand polydactyly, Postaxial polydactyly |
OMIM:611560 |
| Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Holoprosencephaly, Anophthalmia, Anterior hypopituitarism, Decreased response to ... |
OMIM:147250 |
| Holoprosencephaly |
|
Ventricular septal defect, Anterior hypopituitarism, Abnormal pulmonary valve morphology, Microph... |
ORPHA:2162 |
| Holoprosencephaly-Postaxial Polydactyly Syndrome |
|
Microphthalmia, Holoprosencephaly, Polyhydramnios, Hydrocephalus, Aplasia/Hypoplasia of the corpu... |
ORPHA:2166 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Microphthalmia, Abnormal lower limb bone morphology, Abnormal femoral neck/head morphology, Metap... |
ORPHA:2788 |
| Mycophenolate Mofetil Embryopathy |
|
Ventricular septal defect, Microphthalmia, Foot polydactyly, Hydrocephalus, Short palm, Agenesis ... |
ORPHA:268249 |
| Craniorachischisis |
|
Sirenomelia, Anencephaly, Myelomeningocele, Bifid sternum, Cervical spina bifida, Spinal dysraphism |
ORPHA:63260 |
| Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
| Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
| Baraitser-Winter Syndrome 2 |
|
Microphthalmia, Pachygyria, Secondary microcephaly, Lissencephaly, Agenesis of corpus callosum |
OMIM:614583 |
| Meier-Gorlin Syndrome 7 |
|
Hypospadias, 2-3 toe syndactyly, Aplasia/Hypoplasia of the patella, Growth delay, Short stature, ... |
OMIM:617063 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Postaxial polydactyly |
ORPHA:544254 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Ventricular septal defect, Abnormal heart morphology, Syndactyly, Patent foramen ovale, Camptodac... |
ORPHA:369891 |
| Nephronophthisis 13 |
|
Polydactyly |
OMIM:614377 |
| Microphthalmia With Brain And Digit Anomalies |
|
Microphthalmia, Anophthalmia, Proximal placement of thumb, Finger syndactyly, Postaxial foot poly... |
ORPHA:139471 |
| Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Polymicrogyria, Postaxial polydactyly |
OMIM:617757 |
| Microphthalmia, Syndromic 13 |
|
Microphthalmia, Microcephaly |
OMIM:300915 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Hydronephrosis, Intrauterine growth retardation, Joint laxity, Coat hanger sign of ribs, Wrist fl... |
ORPHA:254528 |
| Juvenile Idiopathic Arthritis |
|
Abnormal joint morphology, Abnormal sacroiliac joint morphology, Joint dislocation, Arthritis, Ca... |
ORPHA:92 |
| Marden-Walker Syndrome |
|
Dextrocardia, Microphthalmia, Talipes equinovarus, Arachnodactyly, Joint contracture of the hand,... |
OMIM:248700 |
| Amyotrophic Lateral Sclerosis 21 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:606070 |
| Galloway-Mowat Syndrome 3 |
|
Microphthalmia, Edema, Arachnodactyly, Simplified gyral pattern, Pachygyria, Hip dislocation, Oli... |
OMIM:617729 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Microphthalmia, Synostosis of carpal bones, Subvalvular aortic stenosis, Bilateral single transve... |
ORPHA:3191 |
| Pseudoaminopterin Syndrome |
|
Horseshoe kidney, Short stature, Postaxial polydactyly, Clinodactyly of the 5th toe, Synostosis o... |
ORPHA:221120 |
| Spondyloepiphyseal Dysplasia, Nishimura Type |
|
Microphthalmia, Abnormal femoral neck/head morphology, Wide proximal femoral metaphysis, Abnormal... |
ORPHA:163649 |
| Meckel Syndrome |
|
Microphthalmia, Lobar holoprosencephaly, Anencephaly, Anophthalmia, Situs inversus totalis, Bowin... |
ORPHA:564 |
| Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Genu valgum, Postaxial polydactyly |
OMIM:619142 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Partial agenesis of the corpus callosum, Microphthalmia, Adducted thumb, Optic nerve hypoplasia, ... |
OMIM:614643 |
| Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects |
|
Ventricular septal defect, Microphthalmia, Atrioventricular canal defect, Absent radius, Atrial s... |
OMIM:600123 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Buphthalmos, Microphthalmia, Hydrocephalus, Polymicrogyria, Agyria, Cerebral calcification, Hypop... |
OMIM:616538 |
| Pallister-Hall Syndrome |
|
Abnormal prolactin level, Arrhinencephaly, Polydactyly affecting the 4th finger, Broad toe, Paten... |
ORPHA:672 |
| Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Microphthalmia, Aplasia/Hypoplasia of the thumb, Absent radius, Aplasia of the 1st metacarpal, Ab... |
ORPHA:1352 |
| Miller-Dieker Lissencephaly Syndrome |
|
Midline brain calcifications, Polydactyly, Deep palmar crease, Abnormal heart morphology, Joint c... |
OMIM:247200 |
| Tetraamelia-Multiple Malformations Syndrome |
|
Microphthalmia, Septo-optic dysplasia, Polyhydramnios, Aplasia/Hypoplasia involving the pelvis, H... |
ORPHA:3301 |
| Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Dysplastic corpus callosum, Microphthalmia, Optic nerve hypoplasia, Polymicrogyria, Lissencephaly... |
OMIM:614833 |
| Mend Syndrome |
|
2-3 toe syndactyly, Microphthalmia, Long fingers, Abnormal heart morphology, Overlapping fingers,... |
ORPHA:401973 |
| Idiopathic Uveal Effusion Syndrome |
|
Microphthalmia |
ORPHA:209956 |
| Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Temporal cortical atrophy, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakness, Fronta... |
OMIM:167320 |
| Stromme Syndrome |
|
Microphthalmia, Optic nerve hypoplasia, Stillbirth, Preaxial polydactyly, Hydrocephalus, Agenesis... |
OMIM:243605 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Ventricular septal defect, Hydrocephalus, Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
| Boucher-Neuhauser Syndrome |
|
Abnormal upper motor neuron morphology |
OMIM:215470 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation |
|
Simplified gyral pattern, Microphthalmia, Microcephaly, Lymphedema |
OMIM:152950 |
| Acro-Renal-Ocular Syndrome |
|
Short hallux, Broad hallux phalanx, Toe syndactyly, Triphalangeal thumb, Radial club hand, Microp... |
ORPHA:959 |
| Cat-Eye Syndrome |
|
Hip dysplasia, Microphthalmia |
ORPHA:195 |
| Holoprosencephaly-Radial Heart Renal Anomalies Syndrome |
|
Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Hypoplasia of the... |
ORPHA:3186 |
| Roberts Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Hypoplasia of the radiu... |
ORPHA:3103 |
| Fanconi Anemia, Complementation Group D2 |
|
Microphthalmia, Abnormal heart morphology, Patent ductus arteriosus, Absent radius, Complete dupl... |
OMIM:227646 |
| Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Microphthalmia, Hydrocephalus |
OMIM:601794 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Microphthalmia, Hypoplastic ilia, Bowing of the legs, Short long bone, Ivory epiphyses, Bowing of... |
ORPHA:85167 |
| Microphthalmia, Isolated 6 |
|
Microphthalmia |
OMIM:613517 |
| Aicardi Syndrome |
|
Dilated third ventricle, Partial agenesis of the corpus callosum, Microphthalmia, Proximal placem... |
OMIM:304050 |
| Microphthalmia-Brain Atrophy Syndrome |
|
Corpus callosum atrophy, Diffuse cerebral atrophy, Dilation of lateral ventricles, Bilateral micr... |
ORPHA:77299 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Microphthalmia |
OMIM:610092 |
| Monosomy 9Q22.3 |
|
Microphthalmia, Polydactyly, Palmar pits, Cardiac fibroma, Hydrocephalus, Umbilical hernia, Calci... |
ORPHA:77301 |
| Primary Lateral Sclerosis |
|
Cervical spinal cord atrophy, Abnormal upper motor neuron morphology, Atrophy of the spinal cord |
ORPHA:35689 |
| Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormality of pelvic girdle bone morphology, Carpal bone hypoplasia, Abnormal upper motor neuron... |
OMIM:601162 |
| Fanconi Anemia, Complementation Group F |
|
Microphthalmia, Decreased response to growth hormone stimulation test, Polyhydramnios, Hypoplasia... |
OMIM:603467 |
| Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation |
|
Microphthalmia |
OMIM:120433 |
| Fanconi Anemia, Complementation Group S |
|
Microphthalmia, Clinodactyly, Proximal placement of thumb, Microcephaly |
OMIM:617883 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal cardiac septum morphology, Abnormal lower motor neuron morphology |
ORPHA:93941 |
| Subaortic Stenosis--Short Stature Syndrome |
|
Microphthalmia, Broad finger, Broad toe, Small hand, Subvalvular aortic stenosis, Short foot, Sho... |
OMIM:271960 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Renal hypoplasia, Horizontal ribs, Postaxial polydactyly, Rhizomelia, Renal cyst, Short ribs, Pre... |
OMIM:616300 |
| Ring Chromosome 10 Syndrome |
|
Tapered finger, Microphthalmia, Sandal gap |
ORPHA:1438 |
| Seckel Syndrome 2 |
|
Clinodactyly of the 5th finger, Microphthalmia, Microcephaly |
OMIM:606744 |
| Cohen Syndrome |
|
Ventricular septal defect, Mitral valve prolapse, Microphthalmia, Narrow palm, Tapered finger, Cu... |
ORPHA:193 |
| Cataract 9, Multiple Types |
|
Microphthalmia |
OMIM:604219 |
| Rere-Related Neurodevelopmental Syndrome |
|
Ventricular septal defect, Microphthalmia, Abnormal heart morphology, Hip dysplasia, Hypoplasia o... |
ORPHA:494344 |
| Steinfeld Syndrome |
|
Microphthalmia, Phocomelia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Abnormal heart mo... |
OMIM:184705 |
| Oculogastrointestinal Neurodevelopmental Syndrome |
|
Bicuspid aortic valve, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly |
OMIM:619318 |
| Chromosome 17Q12 Duplication Syndrome |
|
Broad thumb, Atrial septal defect, Microphthalmia, Brachydactyly |
OMIM:614526 |
| Ritscher-Schinzel Syndrome 3 |
|
Microphthalmia, Epiphyseal stippling, Atrioventricular canal defect, Shortening of all distal pha... |
OMIM:619135 |
| Cranioectodermal Dysplasia 3 |
|
Short stature, Postaxial polydactyly, Nephronophthisis, Stage 5 chronic kidney disease, Sandal ga... |
OMIM:614099 |
| Machado-Joseph Disease Type 3 |
|
Degeneration of the striatum, Spinocerebellar tract degeneration, Abnormal lower motor neuron mor... |
ORPHA:276244 |
| Fanconi Anemia, Complementation Group J |
|
Short thumb, Microphthalmia |
OMIM:609054 |
| Focal Dermal Hypoplasia |
|
Short metatarsal, Midclavicular hypoplasia, Foot polydactyly, Hydrocephalus, Short phalanx of fin... |
OMIM:305600 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Decreased calvarial ossification, Horizontal ribs, Postaxial polydactyly, Neonatal death, Fibular... |
OMIM:617925 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Bilateral microphthalmos, Microphthalmia, Microcephaly |
ORPHA:2399 |
| Microphthalmia, Syndromic 3 |
|
Ventricular septal defect, Microphthalmia, Hypothalamic hamartoma, Anophthalmia, Optic nerve hypo... |
OMIM:206900 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Partial agenesis of the corpus callosum, Microphthalmia, Holoprosence... |
OMIM:610829 |
| Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Microphthalmia, Agenesis of corpus callosum |
OMIM:614402 |
| Kapur-Toriello Syndrome |
|
Ventricular septal defect, Dysplastic corpus callosum, Microphthalmia, Patent ductus arteriosus, ... |
ORPHA:2328 |
| Refsum Disease |
|
Microphthalmia, Hammertoe, Abnormality of epiphysis morphology, Cardiomyopathy, Short metacarpal |
ORPHA:773 |
| Moderate Hemophilia A |
|
Synovitis, Hip contracture, Joint hemorrhage, Hematuria, Cartilage destruction, Limitation of joi... |
ORPHA:169805 |
| 3Q29 Microduplication Syndrome |
|
Toe syndactyly, Ventricular septal defect, Microphthalmia, Aniridia, Sandal gap, Camptodactyly of... |
ORPHA:251038 |
| Fryns Syndrome |
|
Arrhinencephaly, Ventricular septal defect, Agenesis of corpus callosum, Microphthalmia, Rocker b... |
OMIM:229850 |
| Myoclonic-Astatic Epilepsy |
|
Syndactyly, Microphthalmia, Microcephaly |
ORPHA:1942 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Microphthalmia, Ascites, Holoprosencephaly, Abnormality of the upper limb, Polyhydramnios, Subval... |
ORPHA:1052 |
| Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Microphthalmia |
OMIM:212550 |
| Posterior Meningocele |
|
Meningocele, Occipital meningocele, Hydromyelia, Neural tube defect, Hydrocephalus, Tethered cord... |
ORPHA:268810 |
| Jacobsen Syndrome |
|
Ventricular septal defect, Microphthalmia, Holoprosencephaly, Macular hypoplasia, Brachydactyly, ... |
OMIM:147791 |
| Craniofacial Microsomia |
|
Ventricular septal defect, Microphthalmia, Anophthalmia, Patent ductus arteriosus, Branchial anom... |
OMIM:164210 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Ventricular septal defect, Microphthalmia, Histiocytoid cardiomyopathy, Colpocephaly, Absent sept... |
OMIM:309801 |
| Tarp Syndrome |
|
Horseshoe kidney, Hydronephrosis, Intrauterine growth retardation, Rocker bottom foot, Postaxial ... |
ORPHA:2886 |
| Methylmalonate Semialdehyde Dehydrogenase Deficiency |
|
Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly |
OMIM:614105 |
| Kinsship Syndrome |
|
Horseshoe kidney, Renal hypoplasia, Polydactyly, Short stature, Fibular hypoplasia, Dislocated ra... |
OMIM:619297 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Talipes equinovarus, Patent ductus arteriosus, Broad hallux, Aortic valve ste... |
OMIM:300166 |
| Incontinentia Pigmenti |
|
Microphthalmia, Finger syndactyly, Deviation of finger, Abnormal hand morphology, Absent hand, Ca... |
ORPHA:464 |
| 3Mc Syndrome 3 |
|
Horseshoe kidney, Growth delay, Short stature, Penoscrotal hypospadias, Preaxial polydactyly, Mic... |
OMIM:248340 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Abnormal prolactin level, Polydactyly, Septo-optic dysplasia, Holoprosencephaly, Decreased respon... |
ORPHA:95494 |
| Galloway-Mowat Syndrome 1 |
|
Microphthalmia, Talipes equinovarus, Hypoplasia of the iris, Hand clenching, Joint contracture of... |
OMIM:251300 |
| 22Q11.2 Deletion Syndrome |
|
Arrhinencephaly, Truncus arteriosus, Talipes equinovarus, Patent ductus arteriosus, Foot polydact... |
ORPHA:567 |
| Orofaciodigital Syndrome Type 6 |
|
Hypothalamic hamartoma, Abnormal heart morphology, Mesoaxial polydactyly, Foot polydactyly, Preax... |
ORPHA:2754 |
| Teebi-Shaltout Syndrome |
|
Metatarsus adductus, Ventricular septal defect, Microphthalmia, Ulnar deviation of the hand, Rock... |
OMIM:272950 |
| Fanconi Anemia, Complementation Group L |
|
Microphthalmia, Hydrocephalus, Absent thumb |
OMIM:614083 |
| Adams-Oliver Syndrome 1 |
|
Toe syndactyly, Bicuspid aortic valve, Ventricular septal defect, Microphthalmia, Talipes equinov... |
OMIM:100300 |
| Spondylo-Ocular Syndrome |
|
Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia of the lens |
ORPHA:85194 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Abnormal cortical gyration, Rocker bottom foot, Postaxial polydactyly, Long fingers, Edema, Progr... |
OMIM:617527 |
| Familial Exudative Vitreoretinopathy |
|
Microcephaly, Microphthalmia, Macular edema, Lymphedema |
ORPHA:891 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Hypertrophic cardiomyopathy, Oligohydramnios, Microphthalmia, Single transverse palmar crease |
OMIM:619053 |
| Monosomy 13Q14 |
|
Microphthalmia, Holoprosencephaly, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Microcepha... |
ORPHA:1587 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Short stature, Joint laxity, Abnormality of toe, Abnormality of ... |
ORPHA:404448 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Microphthalmia |
ORPHA:1473 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Hydronephrosis, Short stature, Tapered finger, Postaxial polydactyly, Small hand, Hip dislocation... |
OMIM:300968 |
| Oculodentodigital Dysplasia |
|
Microphthalmia, Cubitus valgus, 4-5 finger syndactyly, Short middle phalanx of the 5th finger, 3-... |
OMIM:164200 |
| Alkaptonuria |
|
Joint dislocation, Arthritis, Cartilage destruction, Calcification of cartilage, Reduced bone min... |
ORPHA:56 |
| Vater/Vacterl Association |
|
Patent urachus, Hypospadias, Hydronephrosis, Triphalangeal thumb, Intrauterine growth retardation... |
OMIM:192350 |
| Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma |
|
Microphthalmia |
OMIM:267760 |
| Warburg Micro Syndrome 2 |
|
Microphthalmia, Overlapping toe, Polymicrogyria, Secondary microcephaly, Hypoplasia of the corpus... |
OMIM:614225 |
| Joubert Syndrome 2 |
|
Microphthalmia, Hydrocephalus, Abnormal corpus callosum morphology, Postaxial hand polydactyly |
OMIM:608091 |
| Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Dilated cardiomyopathy, Microphthalmia |
OMIM:618805 |
| Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Hypoplasia of the frontal lobes, Abnormal periventricular white matter morphology, Lobar holopros... |
ORPHA:468631 |
| Bartsocas-Papas Syndrome 2 |
|
Absent distal phalanges, Microphthalmia, Small hand |
OMIM:619339 |
| Frontorhiny |
|
Microphthalmia, Pericallosal lipoma, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of ... |
ORPHA:391474 |
| Fryns Syndrome |
|
Microphthalmia, Polyhydramnios, Tetralogy of Fallot, Short distal phalanx of finger, Abnormal car... |
ORPHA:2059 |
| Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Ventricular septal defect, Microphthalmia, Microcephaly,... |
OMIM:234050 |
| Myhre Syndrome |
|
2-3 toe syndactyly, Ventricular septal defect, Microphthalmia, Pericardial effusion, Cone-shaped ... |
OMIM:139210 |
| Hallermann-Streiff Syndrome |
|
Microphthalmia, Metaphyseal widening, Spina bifida, Slender long bone, Microcephaly, Abnormality ... |
OMIM:234100 |
| Cranioectodermal Dysplasia 2 |
|
Horizontal ribs, Polydactyly, Metopic synostosis, Short stature, Rhizomelia, Craniosynostosis, Re... |
OMIM:613610 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Toe syndactyly, Hallux valgus, Ventricular septal defect, Polydactyly, Arachnodactyly, Acromesome... |
ORPHA:464306 |
| Charge Syndrome |
|
Arrhinencephaly, Absent tibia, Dysplastic tricuspid valve, Patent ductus arteriosus, Overriding a... |
OMIM:214800 |
| Microphthalmia, Lenz Type |
|
Microphthalmia, Complete duplication of thumb phalanx, Finger syndactyly, Aplasia/Hypoplasia of t... |
ORPHA:568 |
| Khan-Khan-Katsanis Syndrome |
|
Buphthalmos, Postaxial polydactyly, Colpocephaly, Abnormal heart morphology, Patent ductus arteri... |
OMIM:618460 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Buphthalmos, Microphthalmia, Pachygyria, Hydrocephalus, Type II lissencephaly, Agenesis of corpus... |
OMIM:613150 |
| Congenital Fibrinogen Deficiency |
|
Clubbing of fingers, Microphthalmia, Right ventricular hypertrophy, Left ventricular hypertrophy |
ORPHA:335 |
| Ane Syndrome |
|
Motor neuron atrophy, Ulnar deviation of the hand, Pituitary hypothyroidism, Anterior pituitary h... |
ORPHA:157954 |
| 3Q29 Microdeletion Syndrome |
|
Microphthalmia, Tapered finger, Patent ductus arteriosus, Subvalvular aortic stenosis, Clinodacty... |
ORPHA:65286 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Microphthalmia |
OMIM:167730 |
| Nance-Horan Syndrome |
|
Short metacarpal, Microphthalmia |
ORPHA:627 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Neonatal death, Patent ductus arteriosus, Anterior pituitary hypoplasia, Syndactyly, Hydrocephalu... |
OMIM:619534 |
| Okamoto Syndrome |
|
Ventricular septal defect, Primum atrial septal defect, Polydactyly, Abnormal mitral valve morpho... |
ORPHA:2729 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Broad long bones, Microphthalmia, Small hand, Fifth finger distal phalanx clinodactyly, 4-5 finge... |
OMIM:257850 |
| Fontaine Progeroid Syndrome |
|
Bicuspid aortic valve, Microphthalmia, Deep palmar crease, Abnormal heart morphology, Neonatal de... |
OMIM:612289 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Postaxial polydactyly, Joint hypermobility, Hip dysplasia, Hydrocephalus, Broad hallux, Unilatera... |
ORPHA:457284 |
| Fanconi Anemia, Complementation Group E |
|
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... |
OMIM:600901 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Oligohydramnios, Microphthalmia, Agenesis of corpus callosum |
ORPHA:228390 |
| Choanal Atresia |
|
Tracheomalacia, Craniosynostosis, Polydactyly |
ORPHA:137914 |
| Bardet-Biedl Syndrome 1 |
|
Postaxial polydactyly, Foot polydactyly, Radial deviation of finger, Short foot, Syndactyly, Micr... |
OMIM:209900 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Buphthalmos, Microphthalmia, Optic nerve hypoplasia, Pachygyria, Hypoplasia of the corpus callosu... |
OMIM:236670 |
| Fanconi Anemia, Complementation Group A |
|
Microphthalmia, Abnormal heart morphology, Absent radius, Complete duplication of thumb phalanx, ... |
OMIM:227650 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Bicuspid aortic valve, Ventricular septal defect, Talipes equinovarus, Postaxial polydactyly, Abn... |
ORPHA:352665 |
| Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies |
|
Abnormal heart morphology, Microphthalmia, Overlapping toe |
OMIM:618571 |
| Adult-Onset Still Disease |
|
Arthritis, Joint swelling, Cartilage destruction |
ORPHA:829 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Microphthalmia, Sandal gap, 3-4 toe syndactyly, Broad hallux, Clinodactyly, Brachydactyly |
OMIM:618727 |
| Isolated Optic Nerve Hypoplasia/Aplasia |
|
Optic disc hypoplasia, Optic nerve hypoplasia, Unilateral microphthalmos, Aplasia/Hypoplasia of t... |
ORPHA:137902 |
| Rubinstein-Taybi Syndrome 1 |
|
Radial deviation of thumb terminal phalanx, Patent ductus arteriosus, Syndactyly, Broad hallux, P... |
OMIM:180849 |
| Holoprosencephaly 2 |
|
Microphthalmia, Holoprosencephaly, Single ventricle, Anterior pituitary agenesis, Agenesis of cor... |
OMIM:157170 |
| 8Q21.11 Microdeletion Syndrome |
|
Microphthalmia, Finger syndactyly, Aplasia/Hypoplasia of the corpus callosum, Camptodactyly of fi... |
ORPHA:284160 |
| Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Long fingers, Hypoplasia of the corpus callosum, Microphthalmia, Microcephaly |
OMIM:156610 |
| Charge Syndrome |
|
Bifid femur, Microphthalmia, Holoprosencephaly, Abnormal aortic valve morphology, Anophthalmia, P... |
ORPHA:138 |
| Arrhinia-Choanal Atresia-Microphthalmia Syndrome |
|
