Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
Syndactyly, Type Iv |
|
1-5 finger syndactyly, Postaxial polydactyly, 6 metacarpals, 2-3 toe syndactyly, Supernumerary me... |
OMIM:186200 |
Synpolydactyly 1 |
|
2nd-5th toe middle phalangeal hypoplasia, Finger syndactyly, Broad hallux, Mesoaxial hand polydac... |
OMIM:186000 |
Congenital Radioulnar Synostosis |
|
Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of... |
ORPHA:3269 |
Triphalangeal Thumb, Nonopposable |
|
Polydactyly, Triphalangeal thumb |
OMIM:190600 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
Microphthalmia With Limb Anomalies |
|
Frontal bossing, Toe syndactyly, Sandal gap, Single transverse palmar crease, Anophthalmia, Capit... |
OMIM:206920 |
Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Pericardial effusion, Polydactyly, Talipes ... |
OMIM:613885 |
Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
Carpenter Syndrome |
|
Syndactyly, Turricephaly, Cloverleaf skull, Finger syndactyly, Toe syndactyly, Craniosynostosis, ... |
ORPHA:65759 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos |
OMIM:611638 |
Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Polydactyly, Abnormal hip bone morphology, Upper limb phocomelia |
ORPHA:294975 |
Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
Fryns Microphthalmia Syndrome |
|
Microphthalmia, Anophthalmia, Neural tube defect |
OMIM:600776 |
Trisomy 13 |
|
Anophthalmia, Postaxial hand polydactyly, Hydrops fetalis, Aplasia/Hypoplasia of the iris, Abnorm... |
ORPHA:3378 |
Trisomy 1Q |
|
Omphalocele, Frontal bossing, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalm... |
ORPHA:261344 |
Non-Syndromic Bicoronal Craniosynostosis |
|
Metacarpal synostosis, Brachydactyly, Brachycephaly, Midface retrusion |
ORPHA:35099 |
Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia, Orbital encephalocele, Congenital hip dislocation |
OMIM:164180 |
Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
Al-Gazali-Bakalinova Syndrome |
|
Frontal bossing, Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Lymphedema, Flattened epi... |
OMIM:607131 |
Cerebrooculonasal Syndrome |
|
Postaxial hand polydactyly, Anophthalmia, Brachycephaly |
ORPHA:66625 |
Bardet-Biedl Syndrome 7 |
|
Clinodactyly, Polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:615984 |
Hydrolethalus |
|
Anophthalmia, Polyhydramnios, Micromelia, Postaxial hand polydactyly, Anencephaly, Microphthalmia |
ORPHA:2189 |
Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Oligohydramnios |
OMIM:615397 |
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Anophthalmia, Tricuspid regurgitation, Camptodactyly of finger, Ulnar deviation ... |
ORPHA:1101 |
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies |
|
Occipital encephalocele, Arachnodactyly, Craniosynostosis, Humeroradial synostosis, Brachycephaly... |
OMIM:614416 |
Anencephaly 2 |
|
Anophthalmia, Anencephaly |
OMIM:619452 |
Mesomelic Dysplasia, Nievergelt Type |
|
Finger syndactyly, Abnormal morphology of ulna, Micromelia, Tarsal synostosis, Elbow dislocation,... |
ORPHA:2633 |
Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
Muenke Syndrome |
|
Broad hallux, Capitate-hamate fusion, Clinodactyly, Brachycephaly, Cone-shaped epiphyses of the p... |
OMIM:602849 |
Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of the 5th finge... |
ORPHA:1106 |
Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
Melorheostosis, Isolated |
|
Hyperostosis, Increased bone mineral density |
OMIM:155950 |
Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, Microph... |
ORPHA:139471 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short metatarsal, Flat acetab... |
OMIM:617102 |
Jackson-Weiss Syndrome |
|
Broad hallux, Calcaneonavicular fusion, Craniosynostosis, Hallux varus, Broad first metatarsal, 2... |
OMIM:123150 |
Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Anophthalmia, Spina bifida |
ORPHA:1104 |
Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Preaxial polydactyly, Genu va... |
OMIM:617927 |
Aminopterin Syndrome Sine Aminopterin |
|
Frontal bossing, Syndactyly, Rudimentary postaxial polydactyly of hands, Arachnodactyly, Inguinal... |
OMIM:600325 |
Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
Microgastria-Limb Reduction Defect Syndrome |
|
Frontal bossing, Abnormal morphology of the radius, Anophthalmia, Aplastic clavicle, Hiatus herni... |
ORPHA:2538 |
Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
Summitt Syndrome |
|
Finger syndactyly, Camptodactyly of finger, Craniosynostosis, Genu valgum, Plagiocephaly, Short p... |
ORPHA:3210 |
X-Linked Intellectual Disability-Plagiocephaly Syndrome |
|
Plagiocephaly, Flat occiput, Brachycephaly, Bradycardia |
ORPHA:2898 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Frontal bossing, Arachnodactyly, Postaxial polydactyly, Tapered finger, Brachycephaly, Genu valgu... |
OMIM:619721 |
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures |
|
Plagiocephaly, Syndactyly, Clinodactyly of the 5th finger, Tapered finger |
OMIM:618725 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Polyhydramnios, Abnormally large globe, Posterior plagiocephaly, Rhizomelic arm shortening, Abnor... |
ORPHA:96190 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Silver-Russell Syndrome Due To A Point Mutation |
|
Frontal bossing, Syndactyly, Inguinal hernia, Short 5th finger, Polydactyly, Ectrodactyly, Small ... |
ORPHA:397590 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Turricephaly, Craniosynostosis, Micromelia, Split hand, Brachycephaly, Oligohy... |
ORPHA:2145 |
Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
Cerebrooculonasal Syndrome |
|
Encephalocele, Frontal bossing, Anophthalmia, Optic nerve hypoplasia, Craniosynostosis, Proboscis... |
OMIM:605627 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... |
OMIM:617895 |
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
Bardet-Biedl Syndrome 8 |
|
Brachycephaly, Postaxial polydactyly |
OMIM:615985 |
14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Brachycephaly, Short foot, ... |
ORPHA:264200 |
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Micromelia, Dolichocep... |
OMIM:614091 |
Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
Joubert Syndrome 10 |
|
Frontal bossing, Postaxial polydactyly |
OMIM:300804 |
Pfeiffer Syndrome Type 1 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short h... |
ORPHA:93258 |
Achondrogenesis, Type Ii |
|
Frontal bossing, Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe... |
OMIM:200610 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Flat occiput, Overlapping toe, Postaxial polydactyly, Tapered finger, Brachycephaly, Macular hypo... |
OMIM:613792 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Bilateral talipes eq... |
OMIM:618142 |
Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Polyhydramnios, Spina bifida, Hypoplasia of the radius, Hip disloc... |
ORPHA:3412 |
Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Brachycephaly, Clinodactyly of the 5th finger,... |
OMIM:201000 |
Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
Septooptic Dysplasia |
|
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
Ivic Syndrome |
|
Hypoplasia of the ulna, Frontal bossing, Short femur, Limited interphalangeal movement, Limited e... |
OMIM:147750 |
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Syndactyly, Polydactyly |
OMIM:602501 |
Orofaciodigital Syndrome Xvii |
|
Short middle phalanx of the 2nd finger, Partial duplication of thumb phalanx, Central Y-shaped me... |
OMIM:617926 |
Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Short toe, Preaxia... |
ORPHA:2756 |
Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Tricuspid regurgitation, Occipital encephalocele, Postaxial... |
OMIM:619879 |
3P25.3 Microdeletion Syndrome |
|
Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Postaxial polydactyly... |
ORPHA:435638 |
Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
Meckel Syndrome, Type 10 |
|
Frontal bossing, Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Pos... |
OMIM:614175 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Nonimmune hydrops fetalis, Craniosynostosis, Plagiocephaly, Slender long bone, Decreased calvaria... |
OMIM:618265 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Intrauterine growth retardation, Polydactyly, Hypoplastic ischia |
OMIM:616910 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Sandal gap, Brachycephaly, Postaxial polydactyly |
OMIM:615761 |
Atelosteogenesis Type Ii |
|
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Foot oligodactyl... |
OMIM:305600 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Talipes... |
OMIM:614815 |
Orofaciodigital Syndrome Viii |
|
Syndactyly, Short tibia, Polydactyly |
OMIM:300484 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
Joubert Syndrome 27 |
|
Frontal bossing, Polydactyly |
OMIM:617120 |
Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Short metatarsal, Plagiocephal... |
OMIM:605282 |
Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
Cockayne Syndrome Type 2 |
|
Intrauterine growth retardation, Anophthalmia |
ORPHA:90322 |
Craniosynostosis 2 |
|
Frontal bossing, Turricephaly, Craniosynostosis, Unicoronal synostosis, Brachycephaly, Triphalang... |
OMIM:604757 |
Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
Pelger-Huet Anomaly |
|
Frontal bossing, Upper limb undergrowth, Polydactyly, Short 3rd metacarpal, Umbilical hernia, Sho... |
OMIM:169400 |
Holoprosencephaly |
|
Omphalocele, Frontal bossing, Encephalocele, Anophthalmia, Flat occiput, Spinal dysraphism, Branc... |
ORPHA:2162 |
Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Radial bowing, Single transverse palmar crease, Micromelia, Postaxial polydactyly, Ulnar bowing, ... |
OMIM:617866 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Single transverse palmar crease, Cranial asymmetry, Camptodactyl... |
OMIM:609128 |
Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly |
OMIM:612913 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Microphthalmia, Anophthalmia |
ORPHA:899 |
Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Intrauterine growth retardation |
ORPHA:2470 |
Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Edema, Telangiectasia, Polydactyly, Umbil... |
ORPHA:93400 |
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
Pulmonary Edema Of Mountaineers, Susceptibility To |
|
Elevated pulmonary artery pressure, Edema, Pulmonary edema |
OMIM:178400 |
Bardet-Biedl Syndrome 3 |
|
Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Preaxial hand polydactyly, Postaxial hand ... |
ORPHA:564 |
Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Clinodactyly of the 5th finger, Polydactyly, Upper limb asymmetry |
ORPHA:231140 |
Solitary Median Maxillary Central Incisor |
|
Microphthalmia, Anophthalmia |
OMIM:147250 |
Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Microphthalmia, Anophthalmia |
OMIM:248450 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:77298 |
Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Hand polydactyly, Foot polydactyly, Short finger, Short ti... |
OMIM:258860 |
Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Frontal bossing, Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, ... |
OMIM:302960 |
Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
Hogue-Janssen Syndrome 2 |
|
Broad hallux, Postaxial polydactyly, Plagiocephaly, Hip dysplasia, Deviation of the 5th finger |
OMIM:616362 |
Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Bilateral microphthalmos, Pulmonic stenosis, Intrauterine growth r... |
OMIM:601186 |
Contractural Arachnodactyly, Congenital |
|
Frontal bossing, Hip contracture, Bowing of the long bones, Arachnodactyly, Metatarsus adductus, ... |
OMIM:121050 |
Muenke Syndrome |
|
Tarsal synostosis, Brachycephaly, Plagiocephaly, Cone-shaped epiphysis, Short foot, Short palm, C... |
ORPHA:53271 |
Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
Cardioacrofacial Dysplasia 1 |
|
Limb undergrowth, Midface retrusion, Postaxial polydactyly, Genu valgum |
OMIM:619142 |
Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Occipital encephalocele, Postaxial hand polydactyly, Polydactyly |
OMIM:607361 |
Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Craniosynostosis, Plagiocephaly, Pansynostosis, Duplication of the d... |
OMIM:180750 |
Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Frontal bossing, Mitral regurgitation, Postaxial polydactyly, Abnormally large globe |
OMIM:603387 |
Oculotrichoanal Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:2717 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial polydactyly, Brachycephaly, 2-3 toe syndactyly, Postaxial foot polydactyly, Broad dista... |
ORPHA:404440 |
Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, Brachycephaly, Clin... |
ORPHA:3103 |
20P13 Microdeletion Syndrome |
|
Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly |
ORPHA:313781 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Omphalocele, Encephalocele, Rhizomelia, Postaxial polydactyly, Squared iliac bones, Preaxial poly... |
OMIM:616300 |
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
Duane-Radial Ray Syndrome |
|
Syndactyly, Hypoplasia of the ulna, Radial deviation of the hand, Sandal gap, Short humerus, Opti... |
OMIM:607323 |
Suleiman-El-Hattab Syndrome |
|
Inguinal hernia, Single transverse palmar crease, Polydactyly, Clinodactyly, Brachydactyly |
OMIM:618950 |
Joubert Syndrome 37 |
|
Microphthalmia, Frontal bossing, Postaxial polydactyly |
OMIM:619185 |
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome |
|
Aplasia/Hypoplasia of the optic nerve, Cranial asymmetry, Optic nerve hypoplasia, Pulmonic stenosis |
ORPHA:137634 |
Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Parietal foramina, Preaxial polydactyly, Brach... |
OMIM:603671 |
Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
Microphthalmia, Syndromic 2 |
|
Anophthalmia, Broad hallux, Sandal gap, 2-3 toe cutaneous syndactyly, 2-3 toe syndactyly, Hammert... |
OMIM:300166 |
Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Postaxial hand polydactyly, Microphthalmia, Midface retrusion |
OMIM:610829 |
Cockayne Syndrome Type 1 |
|
Hypertension, Anophthalmia |
ORPHA:90321 |
Achard Syndrome |
|
Broad skull, Arachnodactyly, Brachycephaly |
OMIM:100700 |
Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
Cranioectodermal Dysplasia 3 |
|
Frontal bossing, Rhizomelia, Sandal gap, Sagittal craniosynostosis, Postaxial polydactyly, 2-4 to... |
OMIM:614099 |
Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
Otopalatodigital Syndrome Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Tarsal synostosis, Short hallux, Camptodact... |
ORPHA:90652 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Chylothorax, Microphthalmia, Pleural effusion |
ORPHA:2526 |
Microphthalmia, Syndromic 3 |
|
Frontal bossing, Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
Miller-Dieker Lissencephaly Syndrome |
|
Omphalocele, Frontal bossing, Inguinal hernia, Single transverse palmar crease, Polyhydramnios, D... |
OMIM:247200 |
Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal widening, Preaxial ... |
OMIM:613091 |
Orofaciodigital Syndrome Vi |
|
Brachydactyly, Toe syndactyly, Short femur, Mesoaxial hand polydactyly, Postaxial polydactyly, Oc... |
OMIM:277170 |
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis |
|
Frontal bossing, Arachnodactyly, Rocker bottom foot, Ulnar bowing, Humeroradial synostosis, Brach... |
OMIM:207410 |
Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
Cranioectodermal Dysplasia 2 |
|
Frontal bossing, Syndactyly, Cloverleaf skull, Rhizomelia, Inguinal hernia, Craniosynostosis, Pol... |
OMIM:613610 |
Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Anophthalmia, Myelomeningocele, Aplasia/Hypoplasi... |
OMIM:219000 |
Orofaciodigital Syndrome Type 6 |
|
Frontal bossing, Syndactyly, Mesoaxial polydactyly, Central Y-shaped metacarpal, Preaxial polydac... |
ORPHA:2754 |
Hemimegalencephaly |
|
Cranial asymmetry |
ORPHA:99802 |
Thrombocytopenia-Absent Radius Syndrome |
|
Edema of the dorsum of feet, Edema of the dorsum of hands, Brachycephaly, Femoral bowing, Abnorma... |
OMIM:274000 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Microphthalmia, Inguinal hernia, Anophthalmia |
ORPHA:2250 |
Adnp Syndrome |
|
Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpholo... |
ORPHA:404448 |
Joubert Syndrome 14 |
|
Encephalocele, Postaxial polydactyly, Meningocele, Intracranial hemorrhage, Hypertension, Microph... |
OMIM:614424 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Intrauterine growth retardation, Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Encephalocele, Anophthalmia, Toe syndactyly, Myelomeningocele, Um... |
ORPHA:2052 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly |
ORPHA:544254 |
Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Tricuspid regurgitation, Anophthalmia, Dilated cardiomyopathy, Mitral regurgitation, Arrhythmia, ... |
ORPHA:2556 |
Cleidocranial Dysplasia 2 |
|
Down-sloping shoulders, Aplastic clavicle, Coxa valga, Genu valgum, Plagiocephaly, Delayed ossifi... |
OMIM:620099 |
Retinitis Pigmentosa 89 |
|
Postaxial polydactyly |
OMIM:618955 |
Basal Cell Nevus Syndrome 1 |
|
Frontal bossing, Down-sloping shoulders, Spina bifida, Palmar pits, Irregular ossification of han... |
OMIM:109400 |
Charge Syndrome |
|
Omphalocele, Hypoplasia of the ulna, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping ... |
OMIM:214800 |
9Q21.13 Microdeletion Syndrome |
|
Hip dysplasia, Polydactyly, Craniosynostosis |
ORPHA:531151 |
Charge Syndrome |
|
Anophthalmia, Polyhydramnios, Abnormal tibia morphology, Bifid femur, Clinodactyly of the 5th fin... |
ORPHA:138 |
Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Polydactyly, Complete duplication of thumb phalanx, Sho... |
ORPHA:59315 |
Pseudoaminopterin Syndrome |
|
Frontal bossing, Brachydactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease... |
ORPHA:221120 |
Mend Syndrome |
|
Broad hallux, Overlapping toe, Long fingers, 2-3 toe syndactyly, Polydactyly, Macular hypoplasia,... |
OMIM:300960 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Peau d'orange, Intrauterine growth retardation, Hip dysplasia, Postaxial polydactyly |
OMIM:614576 |
Carpenter Syndrome 2 |
|
Single transverse palmar crease, Preaxial polydactyly, Brachycephaly, Coxa vara, Cutaneous finger... |
OMIM:614976 |
Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Frontal bossing, Postaxial polydactyly, Preaxial polydactyly, Brachycephaly, Fibular hypoplasia, ... |
OMIM:617925 |
Hunter-Macdonald Syndrome |
|
Aortic regurgitation, Epiphyseal dysplasia, Inguinal hernia, Metatarsus adductus, Brachycephaly, ... |
OMIM:611962 |
Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Short thumb, Preaxial... |
OMIM:113620 |
Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Frontal bossing, Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, ... |
ORPHA:397715 |
Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
Au-Kline Syndrome |
|
Overlapping toe, Craniosynostosis, Sagittal craniosynostosis, Postaxial polydactyly, Coxa valga, ... |
OMIM:616580 |
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
Helsmoortel-Van Der Aa Syndrome |
|
Sandal gap, Broad hallux, Tapered finger, Small hand, Heart murmur, Genu valgum, Posterior plagio... |
OMIM:615873 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Plagiocephaly, Hip ... |
ORPHA:457284 |
Proboscis Lateralis |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Proboscis |
ORPHA:141099 |
Orofaciodigital Syndrome I |
|
Frontal bossing, Syndactyly, Myelomeningocele, Short 2nd toe, Hypertension, Polydactyly, Radial d... |
OMIM:311200 |
Craniosynostosis And Dental Anomalies |
|
Hallux valgus, Frontal bossing, Turricephaly, Flat occiput, Broad hallux, Sagittal craniosynostos... |
OMIM:614188 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Aplastic clavicle, Micromelia, Preaxial polydactyly, Hydro... |
OMIM:616546 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Hip dislocation, Small hand, Brachycephaly, Short foot, Hi... |
OMIM:300968 |
Bardet-Biedl Syndrome 1 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Short ... |
OMIM:209900 |
Choanal Atresia |
|
Polydactyly, Craniosynostosis |
ORPHA:137914 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
Meckel Syndrome, Type 1 |
|
Omphalocele, Syndactyly, Bowing of the long bones, Occipital encephalocele, Camptodactyly of fing... |
OMIM:249000 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Aortic regurgitation, Toe syndactyly, Arachnodactyly, Polydactyly, Acromesomelia, ... |
ORPHA:464306 |
Orofaciodigital Syndrome V |
|
Frontal bossing, Sandal gap, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot po... |
OMIM:174300 |
Monosomy 9Q22.3 |
|
Palmar pits, Umbilical hernia, Polydactyly, Trigonocephaly, Microphthalmia |
ORPHA:77301 |
Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Rocker bottom foot, Single transverse palmar crease, Postaxial polydactyly, Edema, Long fingers, ... |
OMIM:617527 |
Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Radial bowing, Trigonocephaly, Umbilical hernia, Polydactyly affecting the... |
ORPHA:672 |
Culler-Jones Syndrome |
|
Midface retrusion, Postaxial polydactyly |
OMIM:615849 |
Degcags Syndrome |
|
Syndactyly, Tachycardia, Toe syndactyly, Craniosynostosis, Hiatus hernia, Polyhydramnios, Short t... |
OMIM:619488 |
Khan-Khan-Katsanis Syndrome |
|
Frontal bossing, Tricuspid regurgitation, Postaxial polydactyly, Buphthalmos, Intrauterine growth... |
OMIM:618460 |
Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Polyhydramnios, Hypoplastic iliac wing, Prominent fingertip pads... |
OMIM:180849 |
Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hy... |
ORPHA:2886 |
Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Aortic regurgitation, Inguinal hernia, Tapered finger, Abnormal toe morphology, Po... |
ORPHA:268261 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal toe morphology, Abnormal finger morphology, Cranial asymmetry |
OMIM:163200 |
Microphthalmia, Syndromic 1 |
|
Syndactyly, Anophthalmia, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Short clavicle... |
OMIM:309800 |
Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly |
ORPHA:314655 |
Okamoto Syndrome |
|
Omphalocele, Abnormally large globe, Hip dysplasia, Polydactyly, Aortic valve stenosis, Midface r... |
ORPHA:2729 |
Kinsship Syndrome |
|
Single transverse palmar crease, Coxa valga, Hip dislocation, Fibular hypoplasia, Polydactyly, Me... |
OMIM:619297 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Incre... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Craniosynostosis, Postaxial polydactyly, Sagittal craniosynostosis, Incre... |
ORPHA:352665 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Narrow greater sciatic notch, Short palm, Short greater sciatic notch, Cardiomyop... |
OMIM:312870 |
Holoprosencephaly 7 |
|
Omphalocele, Frontal bossing, Flat occiput, Occipital meningocele, Bilateral microphthalmos, Cran... |
OMIM:610828 |
Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Aortic regurgitation, Frontal bossing, Syndactyly, Inguinal hernia, Tricuspid regurgitation, Card... |
OMIM:619534 |
Stromme Syndrome |
|
Microphthalmia, Preaxial polydactyly, Optic nerve hypoplasia |
OMIM:243605 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
Scaphocephaly, Cranial asymmetry |
OMIM:614886 |
Rabson-Mendenhall Syndrome |
|
Cardiomyopathy, Polydactyly, Intrauterine growth retardation |
ORPHA:769 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Polyhydramnios... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Broad hallux, Deviation of the hallux, Cardiac conduction abnormality, Polyhydramnios... |
ORPHA:353277 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Hypertrophic cardiomyopathy, Short femur, Polydactyly |
ORPHA:17 |
3Mc Syndrome 3 |
|
Radioulnar synostosis, Clinodactyly, Preaxial polydactyly |
OMIM:248340 |
Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Postaxial hand polydactyly, Cone-shaped epiphysis, Short l... |
OMIM:617088 |
Loeys-Dietz Syndrome 2 |
|
Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Craniosynostosis, Postaxial pol... |
OMIM:610168 |
Legius Syndrome |
|
Paroxysmal atrial tachycardia, Diaphyseal dysplasia, Polydactyly, Pulmonic stenosis, Clinodactyly... |
ORPHA:137605 |
Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Partial duplication of thumb phalanx, Genu valgum, Branchi... |
OMIM:164210 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Congenital hip dislocation, Overlapping toe, Postaxial polydactyly, Tapered finger... |
ORPHA:480880 |
Lacrimoauriculodentodigital Syndrome 1 |
|
Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph... |
OMIM:149730 |
Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Hypoplasia of the ... |
OMIM:192350 |
Mullegama-Klein-Martinez Syndrome |
|
Clinodactyly of the 5th finger, Frontal bossing, Polydactyly |
OMIM:301022 |
Faciocardiomelic Syndrome |
|
Slender long bone, Polydactyly, Hypoplastic pelvis |
OMIM:612731 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Hypotension, Abnormal digit morphology |
ORPHA:95494 |
Wiedemann-Rautenstrauch Syndrome |
|
Long toe, Frontal bossing, Short humerus, Short femur, Optic disc hypoplasia, Camptodactyly of fi... |
ORPHA:3455 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Broad hallux, Postaxial hand polydactyly, Preaxial polydactyly, Trigonoc... |
OMIM:615948 |
Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly |
OMIM:619869 |