| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia, Bilateral cleft lip and palate |
OMIM:600776 |
| Facial Clefting, Oblique, 1 |
|
Cleft upper lip, Tessier number 4 facial cleft, Microphthalmia, Cleft palate, Deep palmar crease |
OMIM:600251 |
| Syndactyly Type 2 |
|
Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism affecting the phalanges of the hand, S... |
ORPHA:93403 |
| Anophthalmia Plus Syndrome |
|
Non-midline cleft lip, Anophthalmia, Facial cleft, Spina bifida, Deviation of finger, Cleft palat... |
ORPHA:1104 |
| Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Small hand, Facial cleft, Hypodontia, Advanced eruption of teeth, Clinodactyly of ... |
ORPHA:952 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Aplasia/Hypoplasia affecting the eye, Facial cleft, Abnormality of the h... |
ORPHA:1794 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Broad proximal phalanges of the hand, Opt... |
OMIM:607597 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Cleft upper lip, Anterior encephalocele, Foot oligodactyly, Facial cleft, Bilateral cleft lip, Sh... |
OMIM:601357 |
| Cerebrooculonasal Syndrome |
|
High palate, Anophthalmia, Facial cleft, Widely spaced teeth, Long philtrum, Microdontia, Solitar... |
ORPHA:66625 |
| Anencephaly 2 |
|
Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft lip, Median cleft palate |
OMIM:619452 |
| Syndactyly, Type Iv |
|
Triphalangeal thumb, 2-3 toe syndactyly, Polydactyly, Supernumerary metacarpal bones, 1-5 finger ... |
OMIM:186200 |
| Meckel Syndrome, Type 8 |
|
Polydactyly, Cleft upper lip, Encephalocele, Anophthalmia, Pericardial effusion, Microphthalmia, ... |
OMIM:613885 |
| Congenital Radioulnar Synostosis |
|
Polydactyly, Limited elbow movement, Abnormal morphology of the radius, Radioulnar synostosis, Ab... |
ORPHA:3269 |
| Microphthalmia With Limb Anomalies |
|
Toe syndactyly, Hip dislocation, Metatarsal synostosis, 2-3 toe cutaneous syndactyly, Postaxial h... |
OMIM:206920 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
2-3 toe syndactyly, Cleft upper lip, Short 5th finger, Facial cleft, Narrow mouth, Cleft palate, ... |
OMIM:239800 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Bilateral microphthalmos, Anophthalmia, Orofacial cleft |
OMIM:611638 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Small hand, Facial cleft, Clinodactyly of the 5th finger, Brachydactyly, Spina... |
ORPHA:1786 |
| Frontonasal Dysplasia 3 |
|
Cleft palate, Microphthalmia, Facial cleft |
OMIM:613456 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Easily subluxated first metacarpophalangeal joints, Tapered finger, Pierre-Robin sequence, Clinod... |
OMIM:311895 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Upper limb phocomelia, Syndactyly, Cleft palate, Abnormal hip bone morphology |
ORPHA:294975 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Short Rib-Polydactyly Syndrome |
|
Short tibia, Polydactyly, Polyhydramnios, Abnormal pelvis bone ossification, Cleft palate, Orofac... |
ORPHA:1505 |
| Constricting Bands, Congenital |
|
Cleft upper lip, Encephalocele, Facial cleft, Gastroschisis, Hand polydactyly, Syndactyly, Bladde... |
OMIM:217100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Multiple Synostoses Syndrome 3 |
|
Humeroradial synostosis, Cutaneous syndactyly of toes, Metatarsal synostosis, Broad hallux, Metac... |
OMIM:612961 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Hydrolethalus |
|
Polyhydramnios, Anophthalmia, Gingival cleft, Arrhinencephaly, Anencephaly, Bifid uvula, Submucou... |
ORPHA:2189 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Arthrogryposis, Distal, Type 1C |
|
Camptodactyly of finger, Wrist flexion contracture, Hip contracture, High palate, Elbow flexion c... |
OMIM:619110 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Orbital encephalocele, Congenital hip dislocation, Microphthalmia, Cleft palate |
OMIM:164180 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Mosaic Trisomy 9 |
|
Camptodactyly of finger, Polyhydramnios, Hydrops fetalis, High palate, Facial cleft, Spina bifida... |
ORPHA:99776 |
| Frontofacionasal Dysplasia |
|
Non-midline cleft lip, Encephalocele, Facial cleft, Microphthalmia, Cleft palate |
ORPHA:1791 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Facial cleft, Wide mouth, Hand polydactyly, Congenital hip dislocation, Aplasi... |
ORPHA:1647 |
| Orofaciodigital Syndrome Xviii |
|
Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Single transverse palmar crease, ... |
OMIM:617927 |
| Santos Syndrome |
|
Polydactyly, Genu valgum, Talipes equinovarus, Oligodactyly, Metatarsus adductus, Syndactyly, Pre... |
OMIM:613005 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Absent dorsal skin creases over affected joints, Triangular shaped phalanges of the hand, Brachyd... |
OMIM:618167 |
| Polydactyly, Postaxial, Type A1 |
|
Triphalangeal thumb, Syndactyly, Broad thumb, Preaxial polydactyly, Postaxial hand polydactyly |
OMIM:174200 |
| Trisomy 13 |
|
Hydrops fetalis, Anophthalmia, Long philtrum, Aplasia/Hypoplasia of the iris, Abnormal pelvic gir... |
ORPHA:3378 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalanges with a central hole, ... |
OMIM:174700 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Trisomy 1Q |
|
Camptodactyly of finger, Polyhydramnios, Preaxial hand polydactyly, Hydrops fetalis, Anophthalmia... |
ORPHA:261344 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Hypoplastic acetabulae, Toe syndactyly, Short femur, Ectrodactyly, ... |
ORPHA:93323 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal metacarpal morphology, Clinodactyly of the 5th finger, Hand oligodactyly, Abnormal morph... |
ORPHA:3104 |
| Split-Hand/Foot Malformation 1 |
|
Triphalangeal thumb, Foot oligodactyly, Clinodactyly, Broad hallux, Syndactyly, Hand oligodactyly... |
OMIM:183600 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Abnormal palate morph... |
ORPHA:1236 |
| Triopia |
|
Polyhydramnios, Encephalocele, Midline facial cleft, Median cleft lip, Cleft palate |
ORPHA:3374 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Bardet-Biedl Syndrome 7 |
|
2-3 toe syndactyly, Polydactyly, Clinodactyly, Narrow mouth, Postaxial polydactyly |
OMIM:615984 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Facial cleft, Foot polydactyly, Tracheoesophageal fistula, Microphthalmia, Short... |
ORPHA:268249 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Facial cleft, Clinodactyly, Radioulnar synostosis, Preaxial polydactyly, Cleft p... |
OMIM:248340 |
| Microphthalmia With Limb Anomalies |
|
Short tibia, Toe syndactyly, Hip dislocation, Elbow dislocation, Postaxial hand polydactyly, Clef... |
ORPHA:1106 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Acromelic Frontonasal Dysostosis |
|
Short tibia, Polydactyly, Cleft upper lip, Patellar hypoplasia, Midline facial cleft, Encephaloce... |
OMIM:603671 |
| Meckel Syndrome, Type 2 |
|
Meningocele, Polydactyly, Encephalocele, Anencephaly, Intestinal malrotation, Microphthalmia, Pos... |
OMIM:603194 |
| Jawad Syndrome |
|
Absent fourth finger distal interphalangeal crease, Hallux valgus, Short middle phalanx of the 5t... |
OMIM:251255 |
| Microphthalmia With Brain And Digit Anomalies |
|
High palate, Finger syndactyly, Anophthalmia, Postaxial foot polydactyly, Microphthalmia, Proxima... |
ORPHA:139471 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia |
OMIM:615524 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Orofaciodigital Syndrome Viii |
|
Short tibia, Polydactyly, High palate, Median cleft lip, Syndactyly, Cleft palate |
OMIM:300484 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Short philtrum, Everted lower lip vermilion, Abnormal spaced incisors, Thick vermil... |
ORPHA:411986 |
| Bartsocas-Papas Syndrome 1 |
|
Short phalanx of finger, Absent thumb, Cleft palate, Talipes equinovarus, Hypoplastic iliac wing,... |
OMIM:263650 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Split hand/foot malformation 1 (SHFM1) |
|
2-3 toe syndactyly, Cutaneous finger syndactyly, Toe syndactyly, Median cleft lip, Split foot, Sp... |
DECIPHER:46 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Orofaciodigital Syndrome Iv |
|
Short tibia, Lobulated tongue, High palate, Tongue nodules, Toe syndactyly, Foot polydactyly, Sho... |
OMIM:258860 |
| Manitoba Oculotrichoanal Syndrome |
|
Anophthalmia, Anteriorly placed anus, Microphthalmia, Omphalocele, Anal stenosis |
OMIM:248450 |
| Treacher-Collins Syndrome |
|
Cleft upper lip, Encephalocele, High palate, Facial cleft, Wide mouth, Abnormality of the dentiti... |
ORPHA:861 |
| Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Spina bifida, Synostosis of carp... |
ORPHA:957 |
| Al-Gazali-Bakalinova Syndrome |
|
Polydactyly, Genu valgum, Tapered finger, Lymphedema, Clinodactyly, Epiphyseal dysplasia, Inguina... |
OMIM:607131 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Polydactyly, Hydrops fetalis, High palate, Short long bone, Short lingual frenulum, Microdontia, ... |
OMIM:614091 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Polydactyly, Abnormality of the dentition, Brachydactyly |
OMIM:615982 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Cranium bifidum occultum, Facial cleft, Pectoral muscle hypoplasia/aplas... |
ORPHA:306542 |
| Meckel Syndrome, Type 11 |
|
Polydactyly, Occipital encephalocele, Oligohydramnios |
OMIM:615397 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Elbow dislocation, Phocomelia, Ectrodactyly, Absent hand, Anophthalmia, Esophageal atresia, Abnor... |
ORPHA:2538 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Narrow palate, High palate, Long philtrum, Optic nerve hypoplasia, S... |
OMIM:605627 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Carpenter Syndrome |
|
Umbilical hernia, Polydactyly, Genu valgum, Finger syndactyly, Toe syndactyly, Preaxial foot poly... |
ORPHA:65759 |
| Solitary Median Maxillary Central Incisor |
|
Cleft upper lip, Anophthalmia, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Acropectoral Syndrome |
|
Triphalangeal thumb, Preaxial polydactyly, Partial duplication of thumb phalanx |
OMIM:605967 |
| Orofaciodigital Syndrome Xvii |
|
Polydactyly, Short middle phalanx of the 2nd finger, Clinodactyly, Clubbing of fingers, Partial d... |
OMIM:617926 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Meckel Syndrome, Type 5 |
|
Cleft upper lip, Anencephaly, Postaxial foot polydactyly, Microphthalmia, Postaxial hand polydact... |
OMIM:611561 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Fraser Syndrome 1 |
|
Difficulty in tongue movements, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphol... |
OMIM:219000 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Non-midline cleft lip, Ectopic anus, Spina bifida, Anencephaly, Gastroschisis, Aplasia/Hypoplasia... |
ORPHA:2476 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Split foot, Microphthalmia, Widely-spaced maxillary central incisors, Cleft pala... |
OMIM:601349 |
| Synpolydactyly 2 |
|
Polydactyly, Toe syndactyly, Carpal synostosis, Metatarsal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Meckel Syndrome, Type 10 |
|
Ulnar deviation of the hand, Anencephaly, Bifid uvula, Camptodactyly, Postaxial foot polydactyly,... |
OMIM:614175 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short phalanx of finger, Short metacarpal, Angel-shaped phalanx, Widely spaced teeth, Flat acetab... |
OMIM:617102 |
| Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Radial deviation of the hand, Cleft soft palate, Long philtrum, Metatarsa... |
ORPHA:2756 |
| Joubert Syndrome 18 |
|
Lobulated tongue, Arrhinencephaly, Talipes equinovarus, Camptodactyly, Cleft palate, Occipital en... |
OMIM:614815 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Polydactyly, High palate, Clinodactyly of the 5th finger, Upper limb asymmetry, Dental crowding |
ORPHA:231140 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Anophthalmia, Long philtrum, Talipes equinovarus, Ulnar deviation of fin... |
ORPHA:1101 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Encephalocele, Widely spaced teeth, Oligohydramnios, Tessier number 13 facial clef... |
OMIM:613451 |
| Walker-Warburg Syndrome |
|
Metatarsus valgus, Anophthalmia, Bifid uvula, Submucous cleft hard palate, Microphthalmia, Cleft ... |
ORPHA:899 |
| Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Delayed eruption of teeth, Cleft palate, Genu valgum, Flexion contracture of ... |
ORPHA:2712 |
| Focal Dermal Hypoplasia |
|
Short phalanx of finger, Short 4th metacarpal, Delayed eruption of teeth, Toe syndactyly, Spina b... |
OMIM:305600 |
| Otopalatodigital Syndrome, Type I |
|
Short 4th metacarpal, Coxa valga, Abnormality of the fifth metatarsal bone, Selective tooth agene... |
OMIM:311300 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Syndactyly, Polydactyly, Microphthalmia, Smooth philtrum |
OMIM:602501 |
| Laurin-Sandrow Syndrome |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication... |
ORPHA:2378 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Polydactyly, Short 5th finger, Clinodactyly of the 5th finger, Small placenta, Oligohydramnios, S... |
ORPHA:397590 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Cleft upper lip, Preaxial hand polydactyly, Bifid tongue, Long philtrum, Facial cleft, Ectopic an... |
ORPHA:93271 |
| Vacterl With Hydrocephalus |
|
Polyhydramnios, Anophthalmia, Esophageal atresia, Hypoplasia of the radius, Spina bifida, Arrhine... |
ORPHA:3412 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Anophthalmia, Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, I... |
ORPHA:2250 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Talon cusp, Short metacarpal, Deep philtrum, Microdontia, Clinodactyly, Radioulnar synostosis, Ca... |
OMIM:605282 |
| Orofaciodigital Syndrome Vi |
|
Toe syndactyly, Short femur, Radial deviation of finger, Postaxial hand polydactyly, Cleft palate... |
OMIM:277170 |
| Joubert Syndrome 10 |
|
Deep philtrum, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
| Meckel Syndrome |
|
Preaxial hand polydactyly, Encephalocele, Anophthalmia, Furrowed tongue, Aplasia/Hypoplasia of th... |
ORPHA:564 |
| Suleiman-El-Hattab Syndrome |
|
Polydactyly, High palate, Long philtrum, Wide mouth, Thick lower lip vermilion, Clinodactyly, Thi... |
OMIM:618950 |
| Mohr Syndrome |
|
Lobulated tongue, Metaphyseal irregularity, Preaxial hand polydactyly, Bifid tongue, High palate,... |
OMIM:252100 |
| Cockayne Syndrome Type 2 |
|
Enamel hypoplasia, Anophthalmia, Delayed eruption of primary teeth, Anodontia, Widely spaced prim... |
ORPHA:90322 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Absent thumb, Cleft upper lip, High palate, Hypoplasia of the radius, Hand oligodactyly, Solitary... |
OMIM:602418 |
| Meckel Syndrome, Type 3 |
|
Polydactyly, Postaxial foot polydactyly, Postaxial hand polydactyly, Cleft palate, Occipital ence... |
OMIM:607361 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Long philtrum, Thin upper lip vermilion, Downturned corners of mouth, Sandal gap, Smooth philtrum... |
OMIM:615761 |
| Mullegama-Klein-Martinez Syndrome |
|
Polydactyly, Long philtrum, Clinodactyly of the 5th finger, Short philtrum, Thin upper lip vermil... |
OMIM:301022 |
| 3P25.3 Microdeletion Syndrome |
|
Tapered finger, Deep philtrum, 2-3 finger syndactyly, Pyloric stenosis, Short philtrum, Congenita... |
ORPHA:435638 |
| Tibial Hemimelia |
|
Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me... |
ORPHA:93322 |
| Hydrolethalus Syndrome 2 |
|
Preaxial foot polydactyly, Anencephaly, Postaxial foot polydactyly, Postaxial hand polydactyly, C... |
OMIM:614120 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Cleft palate, Anophthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Pelger-Huet Anomaly |
|
Polydactyly, Upper limb undergrowth, Short 4th metacarpal, Short 5th metacarpal, Short 3rd metaca... |
OMIM:169400 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Coxa vara, High palate, Flat capital femoral epiphysis, Sh... |
OMIM:147891 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Elbow flexion contracture, Metatarsal synostosis, Abnormal forearm bone morphology, Flattened epi... |
ORPHA:93307 |
| Biemond Syndrome Type 2 |
|
Preaxial polydactyly, Microphthalmia |
ORPHA:141333 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Long philtrum, Deep philtrum, Bifid uvula, Abnormal oral frenulum morphology,... |
ORPHA:404440 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Cleft upper lip, Cone-shaped epiphysis, Postaxial polydactyly, Bifid tongue, Short long bone, Abs... |
OMIM:613091 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Joint contracture of the hand, Hypodontia, Bifid uvula, Camptodactyly, Syndactyly,... |
OMIM:603543 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Platyspondylic Dysplasia, Torrance Type |
|
Genu varum, Polyhydramnios, Metaphyseal cupping, Hydrops fetalis, Abnormal carpal morphology, Hyp... |
ORPHA:85166 |
| Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
| Holoprosencephaly 9 |
|
Dental malocclusion, Agenesis of incisor, Cleft upper lip, Anophthalmia, Short philtrum, Optic ne... |
OMIM:610829 |
| 14Q22Q23 Microdeletion Syndrome |
|
Short 4th metacarpal, Short foot, Short 5th metacarpal, Finger syndactyly, Toe syndactyly, Anopht... |
ORPHA:264200 |
| Bardet-Biedl Syndrome 9 |
|
Polydactyly, Postaxial foot polydactyly, Syndactyly, Brachydactyly, Postaxial hand polydactyly, P... |
OMIM:615986 |
| Holoprosencephaly |
|
Spinal dysraphism, Encephalocele, Anophthalmia, Branchial anomaly, Deep philtrum, Bilateral cleft... |
ORPHA:2162 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Wide mouth, Narrow mouth, Thin vermilion border, Postaxi... |
ORPHA:544254 |
| Ivic Syndrome |
|
Absent thumb, Short femur, Short 1st metacarpal, Carpal synostosis, Carpal bone hypoplasia, Hypop... |
OMIM:147750 |
| Orofaciodigital Syndrome V |
|
Lobulated tongue, Bifid tongue, High palate, Hypodontia, Aganglionic megacolon, Bifid uvula, Anky... |
OMIM:174300 |
| Achondrogenesis, Type Ii |
|
Hypoplastic iliac wing, Polyhydramnios, Abnormally large globe, Hydrops fetalis, Short tubular bo... |
OMIM:200610 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Tapered finger, High palate, Long philtrum, Macular hypoplasia, Anal atresia, Overlapping toe, Th... |
OMIM:613792 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Delayed eruption of teeth, Bifid uvula, Broad hallux, 2-3 toe cutaneous synda... |
OMIM:300166 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Polyhydramnios, Postaxial polydactyly, Short long bone |
OMIM:615633 |
| Septooptic Dysplasia |
|
Polydactyly, Short finger, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Clinodactyly, Thin upper lip vermilion, Smooth philtrum, Brachyda... |
ORPHA:313781 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Anophthalmia, Tracheoesophageal fistula, Esophageal atresia |
ORPHA:77298 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
2-3 toe syndactyly, Long philtrum, Anophthalmia, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Short tibia, Lobulated tongue, Encephalocele, Bifid tongue, Natal tooth, Short long bone, Flat ac... |
OMIM:616300 |
| Bardet-Biedl Syndrome 22 |
|
Polydactyly, Postaxial foot polydactyly |
OMIM:617119 |
| Acrocallosal Syndrome |
|
Tapered finger, Everted upper lip vermilion, Toe syndactyly, Bifid uvula, Abnormal oral frenulum ... |
OMIM:200990 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Spina bifida occulta, Preaxial polydactyly |
ORPHA:64754 |
| Otopalatodigital Syndrome Type 2 |
|
Camptodactyly of finger, Flared iliac wing, Elbow dislocation, Short hallux, Cleft palate, Short ... |
ORPHA:90652 |
| Oculotrichoanal Syndrome |
|
Microphthalmia, Anteriorly placed anus, Anophthalmia, Anal stenosis |
ORPHA:2717 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopat... |
OMIM:618052 |
| Congenital Sialidosis Type 2 |
|
Polydactyly, Edema, Hypoplasia of the fovea, Protruding tongue, Inguinal hernia, Ascites, Gingiva... |
ORPHA:93400 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Overlapping toe, Preaxial polydactyly, Overlapping fingers, Bilateral talipes equino... |
OMIM:618142 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Joubert Syndrome 40 |
|
Postaxial polydactyly, Optic nerve hypoplasia |
OMIM:619582 |
| Tarp Syndrome |
|
Short sternum, High palate, Glossoptosis, Tongue nodules, Hypoplasia of the radius, Talipes equin... |
OMIM:311900 |
| Endocrine-Cerebroosteodysplasia |
|
Thick upper lip vermilion, Median cleft palate, Polyhydramnios, Natal tooth, Bilateral cleft lip,... |
OMIM:612651 |
| Bardet-Biedl Syndrome 17 |
|
Polydactyly, Mesoaxial polydactyly, Postaxial foot polydactyly, Brachydactyly, Postaxial hand pol... |
OMIM:615994 |
| Cockayne Syndrome Type 1 |
|
Enamel hypoplasia, Anophthalmia, Delayed eruption of primary teeth, Anodontia, Widely spaced prim... |
ORPHA:90321 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Genu valgum, Short philtrum, Diastema, Accessory oral frenulum, Postaxial polydactyly |
OMIM:619142 |
| Orofaciodigital Syndrome Type 6 |
|
Lobulated tongue, High palate, Tongue nodules, Foot polydactyly, Mesoaxial polydactyly, Hand poly... |
ORPHA:2754 |
| Fraser Syndrome |
|
Dental malocclusion, Cleft upper lip, Wide pubic symphysis, Finger syndactyly, Anophthalmia, Ence... |
ORPHA:2052 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
| Rhombencephalosynapsis |
|
Short phalanx of finger, Polydactyly, Complete duplication of thumb phalanx, Finger syndactyly, S... |
ORPHA:59315 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Contracture of thumb, High palate, Finger syndactyly, Anophthalmia, Toe syndactyly, ... |
OMIM:607932 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication |
OMIM:188740 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Genu valgum, Tapered finger, Long philtrum, Clinodactyly of the 5th finger, Broad thumb, Arachnod... |
OMIM:619721 |
| Duane-Radial Ray Syndrome |
|
Shoulder dislocation, Absent thumb, Aplasia of metacarpal bones, Spina bifida occulta, Optic disc... |
OMIM:607323 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Long philtrum, Hypoplasia of the radius, Syndactyly, Brachydactyly, Omphalocele... |
OMIM:617895 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Joubert Syndrome 16 |
|
Polydactyly, Encephalocele |
OMIM:614465 |
| Orofaciodigital Syndrome I |
|
Polydactyly, Bifid tongue, Median cleft lip, Radial deviation of finger, Alveolar ridge overgrowt... |
OMIM:311200 |
| Hypoglossia-Hypodactyly Syndrome |
|
Aplasia/Hypoplasia of the tongue, High palate, Finger syndactyly, Jejunal atresia, Aplasia/Hypopl... |
ORPHA:989 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Long philtrum, Anophthalmia, Lymphedema, Pleural effusion, Edema, Microphthalmia, Chylothorax, Th... |
ORPHA:2526 |
| Joubert Syndrome 14 |
|
Meningocele, Encephalocele, Short philtrum, Tented upper lip vermilion, Microphthalmia, Cleft pal... |
OMIM:614424 |
| Miller-Dieker Lissencephaly Syndrome |
|
Thick upper lip vermilion, Polydactyly, Polyhydramnios, Joint contracture of the hand, Delayed er... |
OMIM:247200 |
| Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... |
ORPHA:2751 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Short tibia, Short phalanx of finger, Hip subluxation, Short 5th finger, Cleft lower alveolar rid... |
OMIM:268305 |
| Charge Syndrome |
|
Polyhydramnios, Cleft upper lip, Anophthalmia, Delayed eruption of teeth, Clinodactyly of the 5th... |
ORPHA:138 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Hip dysplasia, Deviation of the 5th finger, Broad hallux, Tented upper lip vermilion, Open mouth,... |
OMIM:616362 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
2-3 toe syndactyly, Radial bowing, Ulnar bowing, Hypoplastic ischia, Intestinal malrotation, Thin... |
OMIM:617866 |
| Charge Syndrome |
|
Polyhydramnios, Bilateral talipes equinovarus, Cleft palate, Anophthalmia, Esophageal atresia, Ab... |
OMIM:214800 |
| Joubert Syndrome 37 |
|
High palate, Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Polyhydramnios, Short long bone, Femoral bowing, Syndactyly, Preaxial polydactyly, Acetabular spu... |
OMIM:615503 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Brachydactyly, Polydactyly, Short long bone |
OMIM:613819 |
| Meckel Syndrome 14 |
|
Postaxial foot polydactyly, Oligohydramnios, Syndactyly, Microphthalmia, Postaxial hand polydacty... |
OMIM:619879 |
| Joubert Syndrome 20 |
|
Postaxial polydactyly, 4-5 toe syndactyly |
OMIM:614970 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Joubert Syndrome 7 |
|
Postaxial hand polydactyly, Genu valgum, Encephalocele, Postaxial polydactyly |
OMIM:611560 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Bilateral microphthalmos, Anophthalmia |
OMIM:601186 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Polyhydramnios, Hydrops fetalis, Aplastic clavicle, Anencephaly, Preaxial polydactyly, Cleft pala... |
OMIM:616546 |
| Basal Cell Nevus Syndrome 1 |
|
Palmar pits, Polydactyly, Cleft upper lip, Odontogenic keratocysts of the jaw, Short 4th metacarp... |
OMIM:109400 |
| Holoprosencephaly 1 |
|
Microphthalmia, Facial cleft, Median cleft lip and palate |
OMIM:236100 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly |
OMIM:615996 |
| Microphthalmia, Syndromic 1 |
|
Camptodactyly, Radial deviation of finger, Orofacial cleft, Anophthalmia, Agenesis of maxillary l... |
OMIM:309800 |
| Joubert Syndrome 15 |
|
Polydactyly |
OMIM:614464 |
| Lymphatic Malformation 7 |
|
Pulmonary edema, Lymphedema, Pericardial effusion, Nonimmune hydrops fetalis, Pleural effusion, E... |
OMIM:617300 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Radial deviation of finger, Smooth philtrum, Postaxial hand polydactyly,... |
OMIM:249000 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Polyhydramnios, Epiphyseal stippling, Abnormal pelvic girdle bone morphology, Tarsal stippling, S... |
OMIM:302960 |
| 9Q21.13 Microdeletion Syndrome |
|
Polydactyly, Downturned corners of mouth, Abnormal tongue morphology, Hip dysplasia |
ORPHA:531151 |
| Phocomelia, Schinzel Type |
|
Meningocele, Hydrops fetalis, Foot oligodactyly, Humeroradial synostosis, High, narrow palate, Hy... |
ORPHA:2879 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Microphthalmia, Syndromic 3 |
|
Anophthalmia, Esophageal atresia, Optic nerve aplasia, Optic nerve hypoplasia, Microphthalmia |
OMIM:206900 |
| Branchiooculofacial Syndrome |
|
Cleft upper lip, Preaxial hand polydactyly, Anophthalmia, Branchial anomaly, Lower lip pit, Elbow... |
OMIM:113620 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Long philtrum, Palmoplantar hyperhidrosis, Edema, Single transverse palmar crease, S... |
OMIM:617527 |
| Congenital Tricuspid Valve Dysplasia |
|
Patent foramen ovale, Cardiomegaly, Pericardial effusion, Abnormal tricuspid valve leaflet morpho... |
ORPHA:555874 |
| Joubert Syndrome 17 |
|
3-4 finger syndactyly, Preaxial polydactyly, Postaxial polydactyly |
OMIM:614615 |
| Pseudoaminopterin Syndrome |
|
Hip subluxation, Short 4th metacarpal, Limited elbow movement, High palate, Microdontia, Synostos... |
ORPHA:221120 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Tapered finger, Small hand, Long philtrum, Hip dysplasia, Bifid uvula, Hip dislocation, Anal atre... |
OMIM:300968 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Tarp Syndrome |
|
Short sternum, Pierre-Robin sequence, Finger syndactyly, Glossoptosis, Tongue nodules, Abnormal d... |
ORPHA:2886 |
| Bardet-Biedl Syndrome 1 |
|
High palate, Foot polydactyly, Hypodontia, Aganglionic megacolon, Postaxial foot polydactyly, Syn... |
OMIM:209900 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Enamel hypoplasia, Peau d'orange, Hip dysplasia, Inflammation of the large intestine, Esophageal ... |
OMIM:614576 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short tibia, Hypoplastic pubic bone, Natal tooth, Short long bone, Anal atresia, Esophageal diver... |
OMIM:617925 |
| Kinsship Syndrome |
|
Polydactyly, Coxa valga, Wide mouth, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossi... |
OMIM:619297 |
| Proboscis Lateralis |
|
High palate, Anophthalmia, Long philtrum, Agenesis of canine, Optic nerve hypoplasia, Microphthal... |
ORPHA:141099 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Polyhydramnios, Hydrops fetalis, High palate, Widely spaced teeth, Microdontia, Clin... |
OMIM:613610 |
| Joubert Syndrome 21 |
|
Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Long philtrum, Delayed eruption of ... |
ORPHA:77301 |
| Stromme Syndrome |
|
Jejunal atresia, Wide mouth, Optic nerve hypoplasia, Intestinal malrotation, Preaxial polydactyly... |
OMIM:243605 |
| Adnp Syndrome |
|
2-3 toe syndactyly, Polydactyly, Abnormal finger morphology, Thick lower lip vermilion, Advanced ... |
ORPHA:404448 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Dental malocclusion, Bifid tongue, Branchial anomaly, Exaggerated median tongue furrow, Hip dyspl... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Dental malocclusion, Bifid tongue, Branchial anomaly, Exaggerated median tongue furrow, Hip dyspl... |
ORPHA:352665 |
| Rubinstein-Taybi Syndrome 1 |
|
Polydactyly, Polyhydramnios, Flared iliac wing, Duplication of phalanx of hallux, Dislocated radi... |
OMIM:180849 |
| Helsmoortel-Van Der Aa Syndrome |
|
Polydactyly, Tapered finger, Microdontia, Broad hallux, Everted lower lip vermilion, Smooth philt... |
OMIM:615873 |
| Au-Kline Syndrome |
|
Dental malocclusion, Coxa valga, Bifid tongue, High palate, Hip dysplasia, Oligodontia, Bifid uvu... |
OMIM:616580 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly |
OMIM:616629 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, High palate, Tented upper lip vermilion, Deep philtrum |
ORPHA:314655 |
| Mend Syndrome |
|
2-3 toe syndactyly, Polydactyly, High palate, Macular hypoplasia, Overlapping toe, Broad hallux, ... |
OMIM:300960 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Pallister-Hall Syndrome |
|
Short 4th metacarpal, Toe syndactyly, Bifid uvula, Hip dislocation, Overlapping toe, Postaxial ha... |
ORPHA:672 |
| Cranioectodermal Dysplasia 3 |
|
2-3 toe syndactyly, Widely spaced teeth, Everted lower lip vermilion, Sandal gap, Brachydactyly, ... |
OMIM:614099 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Postaxial polydactyly |
OMIM:603387 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormality of the anus, Microphthalmia, Abnormal rectum morphology, Abnormal denta... |
ORPHA:2556 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Culler-Jones Syndrome |
|
Cleft palate, Cleft upper lip, Postaxial polydactyly |
OMIM:615849 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Genu valgum, Cleft upper lip, Anophthalmia, Branchial anomaly, Wide mout... |
OMIM:164210 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Polyhydramnios, Short long bone, Hypodontia, Supernumerary tooth, Accessory oral frenulum, Brachy... |
OMIM:617088 |
| Carpenter Syndrome 2 |
|
Camptodactyly, Talipes equinovarus, Narrow palate, Carious teeth, Umbilical hernia, Dental malocc... |
OMIM:614976 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Okamoto Syndrome |
|
Polydactyly, Abnormally large globe, Exaggerated median tongue furrow, Hip dysplasia, Oligohydram... |
ORPHA:2729 |
| Rabson-Mendenhall Syndrome |
|
Polydactyly, High palate, Advanced eruption of teeth, Macroglossia, Furrowed tongue, Dental crowd... |
ORPHA:769 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Exaggerated median tongue furrow, 2-3 finger syndactyly, Flared iliac wing, Posta... |
OMIM:312870 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
2-3 finger syndactyly, Microdontia, Radial deviation of the 3rd finger, Broad hallux, Absent prox... |
OMIM:149730 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial hand polydactyly, Polydactyly, Postaxial foot polydactyly |
OMIM:615989 |
| Degcags Syndrome |
|
Polydactyly, Genu valgum, Preaxial hand polydactyly, High palate, Long philtrum, Wide mouth, Jeju... |
OMIM:619488 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Meningocele, Short digit, Early ossification of capital femoral epiphyses, Proximal femoral metap... |
ORPHA:397715 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hip dysplasia, Clinodactyly of the 5th finger, Optic nerve hypoplasia, Broad hallux, Inguinal her... |
ORPHA:457284 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Polydactyly, Tapered finger, Hallux valgus, Cleft soft palate, Widely spaced teeth... |
ORPHA:268261 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Hallux valgus, Toe syndactyly, Pyloric stenosis, Clinodactyly of the 5th finger, Oli... |
ORPHA:464306 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Tapered finger, Hallux valgus, Small hand, Long philtrum, High palate, Hip dysplasia, Thick vermi... |
ORPHA:480880 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Elbow flexion contracture, Hip dislocation, Short femur, Elbow dislocation, Bifid first metacarpa... |
OMIM:210710 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Polyhydramnios, Broad hallux, Widened distal phalanges, Talon cusp, Narrow palate, A... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Polyhydramnios, Broad hallux, Widened distal phalanges, Talon cusp, Narrow palate, A... |
ORPHA:353277 |
| Orofaciodigital Syndrome Xiv |
|
Lobulated tongue, Bifid tongue, Natal tooth, Supernumerary tooth, Aplasia of the epiglottis, Broa... |
OMIM:615948 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Dental malocclusion, Long philtrum, Wide mouth, Slender long bone, Hypoplastic pelvis |
OMIM:612731 |
| Khan-Khan-Katsanis Syndrome |
|
Clinodactyly, Buphthalmos, Triangular mouth, Tented upper lip vermilion, Postaxial polydactyly |
OMIM:618460 |
| Loeys-Dietz Syndrome 2 |
|
Protrusio acetabuli, Joint contracture of the hand, Eosinophilic infiltration of the esophagus, B... |
OMIM:610168 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Postaxial polydactyly, Joint contracture of the 5th finger |
OMIM:619562 |
| Bardet-Biedl Syndrome 20 |
|
Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly, Preaxial foot polydactyly |
OMIM:619471 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Orofacial cleft, Short humerus, Short femur |
ORPHA:17 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Polydactyly, High palate, Thin vermilion border |
OMIM:619869 |
| Vater/Vacterl Association |
|
Triphalangeal thumb, Esophageal atresia, Hypoplasia of the radius, Spina bifida, Radioulnar synos... |
OMIM:192350 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Broad first metatarsal, Polydactyly, Polyhydramnios, Everted lower lip vermilion, Syndactyly, Ede... |
OMIM:619534 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Septo-optic dysplasia, Median cleft lip and palate, Optic nerve hypoplasia, Abnormal... |
ORPHA:95494 |
| Legius Syndrome |
|
Polydactyly, Clinodactyly of the 5th finger, Diaphyseal dysplasia |
ORPHA:137605 |
