| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Syndactyly Type 2 |
|
Mesoaxial polydactyly, Sandal gap, Camptodactyly of finger, 2-3 toe syndactyly, Symphalangism aff... |
ORPHA:93403 |
| Fryns Microphthalmia Syndrome |
|
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia |
OMIM:600776 |
| Facial Clefting, Oblique, 1 |
|
Tessier number 4 facial cleft, Cleft upper lip, Cleft palate, Deep palmar crease, Microphthalmia |
OMIM:600251 |
| Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Postaxial hand polydactyly, Small hand, Facial cleft... |
ORPHA:952 |
| Oculomaxillofacial Dysostosis |
|
Brachydactyly, Median cleft lip, Camptodactyly of finger, Abnormality of the dentition, Abnormali... |
ORPHA:1794 |
| Anophthalmia Plus Syndrome |
|
Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li... |
ORPHA:1104 |
| Cerebrooculonasal Syndrome |
|
Anophthalmia, Postaxial hand polydactyly, Facial cleft, High palate, Widely spaced teeth, Solitar... |
ORPHA:66625 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Bilateral cleft palate, Short femur, Bilateral cleft lip, Cleft upper lip, Facial cl... |
OMIM:601357 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft upper lip, High, narrow palat... |
OMIM:607597 |
| 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 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Clef... |
OMIM:613885 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Tapered finger, Pierre-Robin sequence, Cleft palate, Glossoptosis, Easily subluxated first metaca... |
OMIM:311895 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Cleft upper lip, 2-3 toe syndactyly, Cleft palate, Facial cleft, Small thenar eminence, Short 5th... |
OMIM:239800 |
| Microphthalmia With Limb Anomalies |
|
Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Deep philtrum, Tibia... |
OMIM:206920 |
| Anencephaly 2 |
|
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate |
OMIM:619452 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Syndactyly, Cleft palate, Upper limb phocomelia, Polydactyly, Abnormal hip bone morphology |
ORPHA:294975 |
| Acrofacial Dysostosis, Catania Type |
|
Finger syndactyly, Brachydactyly, Inguinal hernia, Abnormality of the dentition, Carious teeth, S... |
ORPHA:1786 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Microphthalmia, Anophthalmia, Bilateral microphthalmos, Orofacial cleft |
OMIM:611638 |
| Frontonasal Dysplasia 3 |
|
Microphthalmia, Facial cleft, Cleft palate |
OMIM:613456 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Brachydactyly, Broad hallux, Overlapping toe, Short hallux, Triangular shaped phalanges of the ha... |
OMIM:618167 |
| Multiple Synostoses Syndrome 3 |
|
Broad hallux, Limited interphalangeal movement, Hallux varus, Humeroradial synostosis, Cleft pala... |
OMIM:612961 |
| Camptosynpolydactyly, Complex |
|
Syndactyly, Polydactyly, Camptodactyly, Cutaneous syndactyly |
OMIM:607539 |
| Constricting Bands, Congenital |
|
Omphalocele, Syndactyly, Encephalocele, Cleft upper lip, Facial cleft, Cleft palate, Hand polydac... |
OMIM:217100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Microphthalmia, Anophthalmia |
ORPHA:85275 |
| Hydrolethalus |
|
Anophthalmia, Micromelia, Polyhydramnios, Postaxial hand polydactyly, Submucous cleft hard palate... |
ORPHA:2189 |
| Arthrogryposis, Distal, Type 1C |
|
Hip contracture, Pursed lips, Shoulder flexion contracture, Rocker bottom foot, Camptodactyly of ... |
OMIM:619110 |
| Santos Syndrome |
|
Syndactyly, Postaxial polydactyly, Metatarsus adductus, Preaxial polydactyly, Genu valgum, Polyda... |
OMIM:613005 |
| Pierre Robin Syndrome And Oligodactyly |
|
Pierre-Robin sequence, Hand oligodactyly, Cleft palate |
OMIM:172880 |
| Polydactyly, Preaxial Iv |
|
Duplication of thumb phalanx, Preaxial polydactyly, Dysplastic distal thumb phalanges with a cent... |
OMIM:174700 |
| Microphthalmia, Isolated 1 |
|
Microphthalmia, Anophthalmia |
OMIM:251600 |
| Orofaciodigital Syndrome Xviii |
|
Sandal gap, Single transverse palmar crease, Postaxial polydactyly, Accessory oral frenulum, Dias... |
OMIM:617927 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Intestinal malrotatio... |
ORPHA:99776 |
| Cerebrooculofacioskeletal Syndrome 3 |
|
Rocker bottom foot, Edema, Cleft palate, Talipes equinovarus, Microphthalmia |
OMIM:616570 |
| Microphthalmia, Syndromic 12 |
|
Microphthalmia, Anophthalmia, Intestinal malrotation, Cleft palate |
OMIM:615524 |
| Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Congenital hip dislocation, Orbital encephalocele, Cleft palate, Microphthalmia |
OMIM:164180 |
| Disorganization, Mouse, Homolog Of |
|
Cleft upper lip, Hip dislocation, Cleft palate, Hand polydactyly, Limb duplication |
OMIM:223200 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Aplasia/Hypoplasia of the distal phalanges of the ... |
ORPHA:1647 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microphthalmia, Anophthalmia |
OMIM:616428 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormal morphology of ulna, Abnormality of the dentition, Hand oligodactyly, Cleft palate, Gloss... |
ORPHA:3104 |
| Split-Hand/Foot Malformation 1 |
|
Syndactyly, Broad hallux, Split hand, Hand oligodactyly, Cleft palate, Split foot, Foot oligodact... |
OMIM:183600 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Non-midline cleft lip, Facial cleft, Cleft palate, Microphthalmia |
ORPHA:1791 |
| Trisomy 13 |
|
Median cleft lip, Anophthalmia, Abnormality of the dentition, High, narrow palate, Postaxial hand... |
ORPHA:3378 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Fibular Hemimelia |
|
Anophthalmia, Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Arthralgia of th... |
ORPHA:93323 |
| Trisomy 1Q |
|
Omphalocele, Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Anophthalmia, Polyhydramnio... |
ORPHA:261344 |
| Bardet-Biedl Syndrome 7 |
|
Postaxial polydactyly, 2-3 toe syndactyly, Polydactyly, Narrow mouth, Clinodactyly |
OMIM:615984 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Lip pit, Tapered finger, Facial cleft, Hypodontia, Microphthalmia, Broad... |
ORPHA:1236 |
| Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
| Jawad Syndrome |
|
Hallux valgus, Single interphalangeal crease of fifth finger, Postaxial polydactyly, 4-5 toe synd... |
OMIM:251255 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Mesomelic Limb Shortening And Bowing |
|
Camptodactyly of finger, Bowing of the legs, Mesomelic arm shortening, Cleft palate, Mesomelic le... |
OMIM:249710 |
| 3Mc Syndrome 3 |
|
Cleft upper lip, Preaxial polydactyly, Facial cleft, Cleft palate, Radioulnar synostosis, Clinoda... |
OMIM:248340 |
| Mycophenolate Mofetil Embryopathy |
|
Tracheoesophageal fistula, Orofacial cleft, Facial cleft, Hydrops fetalis, Foot polydactyly, Shor... |
ORPHA:268249 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Microphthalmia With Limb Anomalies |
|
Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, High palate, Clinodactyly of ... |
ORPHA:1106 |
| Unilateral Ocular Duplication |
|
Encephalocele, Median cleft lip, Polyhydramnios, Midline facial cleft, Cleft palate |
ORPHA:3374 |
| Orofaciodigital Syndrome Viii |
|
Syndactyly, Median cleft lip, Cleft palate, Polydactyly, High palate, Short tibia |
OMIM:300484 |
| Split hand/foot malformation 1 (SHFM1) |
|
Toe syndactyly, Median cleft lip, Split hand, 2-3 toe syndactyly, Cleft palate, Cutaneous finger ... |
DECIPHER:46 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Anophthalmia, Proximal placement of thumb, Postaxial foot polydactyly, High pa... |
ORPHA:139471 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Syndactyly, Optic nerve hypoplasia, Cleft upper lip, Midline facial cleft, Preaxia... |
OMIM:603671 |
| Meckel Syndrome, Type 2 |
|
Omphalocele, Encephalocele, Bowing of the long bones, Intestinal malrotation, Postaxial hand poly... |
OMIM:603194 |
| Syndactyly Type 4 |
|
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... |
ORPHA:93405 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| 2Q24 Microdeletion Syndrome |
|
Toe syndactyly, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of the hallux... |
ORPHA:1617 |
| Bartsocas-Papas Syndrome 1 |
|
Hypoplastic iliac wing, Short phalanx of finger, Syndactyly, Short metacarpal, Cleft upper lip, S... |
OMIM:263650 |
| Orofaciodigital Syndrome Iv |
|
Toe syndactyly, Postaxial polydactyly, Accessory oral frenulum, Hamartoma of tongue, Cleft palate... |
OMIM:258860 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia, Abnormal spaced incisors, Thick vermilion border, Everted lower lip vermilion, Shor... |
ORPHA:411986 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
Syndactyly, Brachydactyly, Hypoplastic scapulae, Bowing of the long bones, Short lingual frenulum... |
OMIM:614091 |
| Bardet-Biedl Syndrome 4 |
|
Syndactyly, Abnormality of the dentition, Polydactyly, Brachydactyly |
OMIM:615982 |
| Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Elbow dislocation, Cleft palate, Mesomelia, Th... |
ORPHA:2631 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Split-Foot Deformity With Mandibulofacial Dysostosis |
|
Split hand, Toe syndactyly, Cleft palate, Split foot |
OMIM:183700 |
| Al-Gazali-Bakalinova Syndrome |
|
Epiphyseal dysplasia, Inguinal hernia, Tapered finger, Lymphedema, Triangular mouth, Flattened ep... |
OMIM:607131 |
| Polydactyly, Preaxial Iii |
|
Preaxial polydactyly, Triphalangeal thumb |
OMIM:174600 |
| Polydactyly, Postaxial, Type A8 |
|
Postaxial polydactyly, Genu valgum |
OMIM:618123 |
| Orofaciodigital Syndrome Xi |
|
Cleft palate, Postaxial polydactyly |
OMIM:612913 |
| Treacher-Collins Syndrome |
|
Encephalocele, Branchial fistula, Abnormal dental morphology, Abnormal dental enamel morphology, ... |
ORPHA:861 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Preaxial polydactyly, Triphalangeal thumb |
OMIM:605967 |
| Acropectorovertebral Dysplasia |
|
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, High, narrow palate,... |
ORPHA:957 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Polydactyly, Oligohydramnios |
OMIM:615397 |
| Holzgreve Syndrome |
|
Hand polydactyly, Cleft palate, Cleft upper lip |
OMIM:236110 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Facial cleft, Cleft palate, Finger clinodactyly, Pectoral muscle hypopla... |
ORPHA:306542 |
| Orofaciodigital Syndrome Xvii |
|
Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Partial duplicatio... |
OMIM:617926 |
| Orofaciodigital Syndrome Type 10 |
|
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Cleft soft palate,... |
ORPHA:2756 |
| Carpenter Syndrome |
|
Syndactyly, Finger syndactyly, Toe syndactyly, Postaxial hand polydactyly, Genu valgum, Umbilical... |
ORPHA:65759 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Anophthalmia, Abnormal finger morphology, Phocomelia, Microgastria, Aplastic clavicle, Hiatus her... |
ORPHA:2538 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, Anophthalmia, Optic nerve hypoplasia, Postaxial polydactyly, Postaxial hand polyda... |
OMIM:605627 |
| Synpolydactyly 2 |
|
Toe syndactyly, Tarsal synostosis, Polydactyly, Carpal synostosis, Metatarsal synostosis, Metacar... |
OMIM:608180 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Carious teeth, Short metatars... |
OMIM:617102 |
| Microphthalmia, Syndromic 8 |
|
Cleft upper lip, Cleft palate, Orofacial cleft, Widely-spaced maxillary central incisors, Split f... |
OMIM:601349 |
| Solitary Median Maxillary Central Incisor |
|
Anophthalmia, Cleft upper lip, Prominent median palatal raphe, Torus palatinus, Solitary median m... |
OMIM:147250 |
| Meckel Syndrome, Type 5 |
|
Occipital encephalocele, Bowing of the long bones, Cleft upper lip, Postaxial hand polydactyly, A... |
OMIM:611561 |
| Microphthalmia, Syndromic 16 |
|
Microphthalmia, Anophthalmia |
OMIM:611038 |
| Otopalatodigital Syndrome Type 1 |
|
Bowing of the long bones, Sandal gap, Short hallux, Proximal placement of thumb, Abnormality of t... |
ORPHA:90650 |
| Fraser Syndrome 1 |
|
Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal small intestine morphology, Anophthalmia... |
OMIM:219000 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
Proximal placement of thumb, Absent thumb, Cleft upper lip, Hypoplasia of the radius, Hand oligod... |
OMIM:602418 |
| Acrorenal Syndrome |
|
Abnormal morphology of ulna, Abnormal tibia morphology, Split hand, Cleft palate, Aplasia/Hypopla... |
ORPHA:971 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
Dental crowding, Upper limb asymmetry, High palate, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:231140 |
| 17Q12 Microduplication Syndrome |
|
Finger syndactyly, Toe syndactyly, Polyhydramnios, Tracheoesophageal fistula, Cleft palate, Micro... |
ORPHA:261272 |
| Joubert Syndrome 18 |
|
Occipital encephalocele, Bowing of the long bones, Trident pelvis, Postaxial polydactyly, Cleft p... |
OMIM:614815 |
| Spondyloperipheral Dysplasia-Short Ulna Syndrome |
|
Hypoplasia of the ulna, Broad hallux, Limited elbow extension, Short metatarsal, Flattened epiphy... |
ORPHA:1856 |
| Joubert Syndrome 10 |
|
Deep philtrum, Thick vermilion border, Postaxial polydactyly |
OMIM:300804 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Omphalocele, Micromelia, Cleft upper lip, Preaxial hand polydactyly, Abnormal pelvis bone ossific... |
ORPHA:93271 |
| Microphthalmia, Isolated 8 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia |
OMIM:615113 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Microphthalmia, Syndactyly, Polydactyly, Smooth philtrum |
OMIM:602501 |
| 3P25.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered fin... |
ORPHA:435638 |
| Walker-Warburg Syndrome |
|
Anophthalmia, Submucous cleft hard palate, Cleft palate, Metatarsus valgus, Microphthalmia, Bifid... |
ORPHA:899 |
| Laurin-Sandrow Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Absent rad... |
ORPHA:2378 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Aplasia/Hypoplasia of the radius,... |
ORPHA:2476 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Fused teeth, Clinodactyly of the 5th finger, Short thumb, 2-3 toe syndactyly, Flexio... |
ORPHA:2712 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Inguinal hernia, Anophthalmia, Camptodactyly of finger, High, narrow palate, Ulnar deviation of f... |
ORPHA:1101 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Syndactyly, Short metacarpal, Hitchhiker thumb, Tarsal synostosis, Diastema, Deep philtrum, Talon... |
OMIM:605282 |
| Otopalatodigital Syndrome, Type I |
|
Abnormality of the fifth metatarsal bone, Selective tooth agenesis, Femoral bowing, Broad distal ... |
OMIM:311300 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Syndactyly, Inguinal hernia, Cleft palate, Short 5th finger, Polydactyly, Ectrodactyly, Small pla... |
ORPHA:397590 |
| Frontonasal Dysplasia 2 |
|
Encephalocele, Tessier number 13 facial cleft, Conical tooth, Widely spaced teeth, Microphthalmia... |
OMIM:613451 |
| Platyspondylic Dysplasia, Torrance Type |
|
Bowing of the long bones, Hypoplastic scapulae, Micromelia, Polyhydramnios, Abnormal carpal morph... |
ORPHA:85166 |
| Coloboma Of Macula And Skeletal Anomalies |
|
Hallux valgus, Coxa valga, Cleft palate, Contracture of the distal interphalangeal joint of the 5... |
OMIM:216800 |
| Meckel Syndrome, Type 10 |
|
Occipital encephalocele, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:614175 |
| Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Anophthalmia, Osteopathia striata, Short metatarsal, Anteriorly place... |
OMIM:305600 |
| Mohr Syndrome |
|
Syndactyly, Median cleft lip, Accessory oral frenulum, Preaxial hand polydactyly, Postaxial hand ... |
OMIM:252100 |
| Limb-Mammary Syndrome |
|
Hallux valgus, Syndactyly, Split hand, Cleft palate, Split foot, Hypodontia, Camptodactyly, Joint... |
OMIM:603543 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Wide capital femoral epiphyses, Short femur, Sandal gap, Tarsal synostosis, Flat capital femoral ... |
OMIM:147891 |
| Suleiman-El-Hattab Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Single transverse palmar crease, Thick lower lip vermi... |
OMIM:618950 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sandal gap, Dental crowding, Postaxial polydactyly, Downturned corners ... |
OMIM:615761 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Meckel Syndrome, Type 3 |
|
Occipital encephalocele, Postaxial hand polydactyly, Cleft palate, Postaxial foot polydactyly, Po... |
OMIM:607361 |
| Vacterl With Hydrocephalus |
|
Inguinal hernia, Anophthalmia, Polyhydramnios, Spina bifida, Esophageal atresia, Hypoplasia of th... |
ORPHA:3412 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Deep philtrum, 2-3 toe s... |
ORPHA:404440 |
| Tibial Hemimelia |
|
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Cutaneous finger syndactyly, Foot o... |
ORPHA:93322 |
| Braddock-Carey Syndrome 2 |
|
Pierre-Robin sequence, Cleft palate, Wide mouth, Microphthalmia, Clinodactyly |
OMIM:619981 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, High palate, Arthral... |
ORPHA:93307 |
| Orofaciodigital Syndrome Vi |
|
Tibial bowing, Lobulated tongue, High palate, Accessory oral frenulum, Cleft upper lip, Hamartoma... |
OMIM:277170 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Meckel Syndrome |
|
Encephalocele, Bowing of the long bones, Anophthalmia, Aplasia/Hypoplasia of the tongue, Preaxial... |
ORPHA:564 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Anophthalmia, Submucous cleft hard palate, Cleft palate, Microphthalmia, Failure... |
ORPHA:2250 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Hypoplasia of the ulna, Metaphyseal spurs, Postaxial polydactyly, Hamartoma of tongue, Cleft uppe... |
OMIM:613091 |
| Bardet-Biedl Syndrome 9 |
|
Syndactyly, Postaxial polydactyly, Postaxial hand polydactyly, Postaxial foot polydactyly, Polyda... |
OMIM:615986 |
| Septooptic Dysplasia |
|
Optic disc hypoplasia, Polydactyly, Optic nerve hypoplasia, Short finger |
OMIM:182230 |
| Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Inguinal hernia, Clinodactyly, Hypoplastic pubic bone,... |
OMIM:184250 |
| Pelger-Huet Anomaly |
|
Abnormality of the dentition, Upper limb undergrowth, Gingival overgrowth, Polydactyly, Short 3rd... |
OMIM:169400 |
| Microphthalmia, Syndromic 5 |
|
Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Cleft palate |
OMIM:610125 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Anophthalmia, Rhizomelia, 2-3 toe syndactyly, Long philtrum, Microphthalmia, 3-4 finger syndactyly |
OMIM:615877 |
| Cockayne Syndrome Type 2 |
|
Anophthalmia, Delayed eruption of primary teeth, Widely spaced primary teeth, Hypoplasia of the p... |
ORPHA:90322 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Short long bone, Polyhydramnios, Postaxial polydactyly, Brachydactyly |
OMIM:615633 |
| Holoprosencephaly 9 |
|
Anophthalmia, Optic nerve hypoplasia, Cleft upper lip, Postaxial hand polydactyly, Agenesis of in... |
OMIM:610829 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Postaxial polydactyly, Abnormal tongue physiology, Wide mouth, Thin vermilion border, High palate... |
ORPHA:544254 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| 14Q22Q23 Microdeletion Syndrome |
|
Finger syndactyly, Optic nerve aplasia, Toe syndactyly, Anophthalmia, Short foot, Downturned corn... |
ORPHA:264200 |
| Hydrolethalus Syndrome 2 |
|
Postaxial hand polydactyly, Anencephaly, Cleft palate, Postaxial foot polydactyly, Preaxial foot ... |
OMIM:614120 |
| Cardioacrofacial Dysplasia 1 |
|
Accessory oral frenulum, Conical tooth, Postaxial polydactyly, Diastema, Genu valgum, Short philt... |
OMIM:619142 |
| Achondrogenesis, Type Ii |
|
Broad long bones, Edema, Short tubular bones of the hand, Abnormally large globe, Polyhydramnios,... |
OMIM:200610 |
| Orofaciodigital Syndrome Type 5 |
|
Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Agangl... |
ORPHA:2919 |
| 20P13 Microdeletion Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Tented upper lip vermilion, Polydactyly, Clinodactyl... |
ORPHA:313781 |
| Orofaciodigital Syndrome V |
|
Thin upper lip vermilion, Median cleft lip, Sandal gap, Aganglionic megacolon, Postaxial polydact... |
OMIM:174300 |
| Ivic Syndrome |
|
Limited elbow movement, Preaxial polydactyly, Triphalangeal thumb, Hypoplasia of the ulna, Limite... |
OMIM:147750 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Mosaic Trisomy 1 |
|
Single transverse palmar crease, Polyhydramnios, Orofacial cleft, Finger clinodactyly, Absent dis... |
ORPHA:1692 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Thin upper lip vermilion, Overlapping toe, Postaxial polydactyly, Tapered finger, Downturned corn... |
OMIM:613792 |
| Holoprosencephaly |
|
Omphalocele, Encephalocele, Median cleft lip, Median cleft lip and palate, Bilateral cleft lip, A... |
ORPHA:2162 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Atelosteogenesis Type Ii |
|
Micromelia, Polyhydramnios, Short phalanx of finger, Broad metacarpals, Ulnar deviation of the ha... |
ORPHA:56304 |
| Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
|
Hydrops fetalis, Cleft palate, Radioulnar synostosis, Short middle phalanx of the 4th finger, Ove... |
OMIM:616738 |
| Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Short tibia, Encephalocele,... |
OMIM:616300 |
| Microphthalmia, Syndromic 2 |
|
Anophthalmia, 2-3 toe cutaneous syndactyly, Oligodontia, Fused teeth, Contracture of the proximal... |
OMIM:300166 |
| Manitoba Oculotrichoanal Syndrome |
|
Omphalocele, Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
OMIM:248450 |
| Campomelia, Cumming Type |
|
Bowing of the long bones, Micromelia, Lymphedema, Hydrops fetalis, Cleft palate, Clubbing of toes... |
ORPHA:1318 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial foot polydactyly, Postaxial polydactyly, Mesoaxial hand polydactyly, Y-shaped metacarpals |
OMIM:615996 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Overlapping toe, Postaxial polydactyly, Preaxial polydactyly, Bilateral talipes equinovarus, High... |
OMIM:618142 |
| Nevus Comedonicus Syndrome |
|
Finger syndactyly, Toe syndactyly, Spina bifida, Preaxial polydactyly, Spina bifida occulta |
ORPHA:64754 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Short tibia, Preaxial polydactyly, Triphalangeal thumb, Absent tibia, Fibular duplication |
OMIM:188740 |
| Tarp Syndrome |
|
Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Hypoplasia of the rad... |
OMIM:311900 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Microphthalmia, Esophageal atresia, Anophthalmia, Tracheoesophageal fistula |
ORPHA:77298 |
| Endocrine-Cerebroosteodysplasia |
|
Syndactyly, Bowed forearm bones, Ulnar deviation of the hand, Sandal gap, Single transverse palma... |
OMIM:612651 |
| Orofaciodigital Syndrome Type 2 |
|
Complete duplication of hallux phalanx, Finger clinodactyly, High palate, Short tibia, Finger syn... |
ORPHA:2751 |
| Schisis Association |
|
Omphalocele, Encephalocele, Micromelia, Spina bifida, Anencephaly, Tracheoesophageal fistula, Cle... |
ORPHA:63862 |
| Acrocallosal Syndrome |
|
Downturned corners of mouth, High palate, Short philtrum, Clinodactyly of the 5th finger, Promine... |
OMIM:200990 |
| Hypoglossia-Hypodactyly Syndrome |
|
Finger syndactyly, Brachydactyly, Jejunal atresia, Aplasia/Hypoplasia of the tongue, Adactyly, Sp... |
ORPHA:989 |
| Joubert Syndrome 27 |
|
Thick lower lip vermilion, Polydactyly |
OMIM:617120 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Micromelia, Postaxial polydactyly, Hypoplastic ilia, Hypoplasia of the r... |
OMIM:617895 |
| Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Short palm, Anodontia, Encephalocele, Synostosis... |
ORPHA:90652 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Inguinal hernia, Edema, Protruding tongue, Gingival overgrowth, Polydact... |
ORPHA:93400 |
| Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Anal stenosis, Anophthalmia |
ORPHA:2717 |
| Bardet-Biedl Syndrome 17 |
|
Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxial hand polydactyly, Postaxial hand polyda... |
OMIM:615994 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Proximal placement of thumb, Aplasia of the epiglottis, High palate, Clinodactyly of the 5th fing... |
OMIM:268305 |
| Trochlea Of The Humerus, Aplasia Of |
|
Short humerus, Cleft palate |
OMIM:191000 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Nonimmune hydrops fetalis, Dumbbell-shaped long bone, Polyhydramnios, Snail... |
OMIM:269250 |
| Rhombencephalosynapsis |
|
Finger syndactyly, Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Tracheoesoph... |
ORPHA:59315 |
| Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Hamartoma of tongue, Central Y-shaped metacarpal, Preaxial pol... |
ORPHA:2754 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Polydactyly, Hypoplastic ischia |
OMIM:616910 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Arachnodactyly, Postaxial polydactyly, Tapered finger, Genu valgum, Clinodactyly of the 5th finge... |
OMIM:619721 |
| Cleft Lip/Palate |
|
Agenesis of lateral incisor, Bilateral cleft palate, Velopharyngeal insufficiency, Abnormality of... |
ORPHA:199306 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea... |
OMIM:607932 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Fraser Syndrome |
|
Omphalocele, Finger syndactyly, Anal stenosis, Toe syndactyly, Dental crowding, Anophthalmia, Enc... |
ORPHA:2052 |
| Orofaciodigital Syndrome X |
|
Coalescence of tarsal bones, Preaxial hand polydactyly, Hand oligodactyly, Cleft palate, Fibular ... |
OMIM:165590 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
| Cockayne Syndrome Type 1 |
|
Anophthalmia, Delayed eruption of primary teeth, Abnormality of the dentition, Widely spaced prim... |
ORPHA:90321 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Thin upper lip vermilion, Radial bowing, Single transverse palmar crease, Micromelia, Postaxial p... |
OMIM:617866 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Upper lim... |
OMIM:607323 |
| Matthew-Wood Syndrome |
|
Microphthalmia, Anophthalmia, Duodenal stenosis |
ORPHA:2470 |
| Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula |
OMIM:119300 |
| Miller-Dieker Lissencephaly Syndrome |
|
Delayed eruption of teeth, Thin upper lip vermilion, Inguinal hernia, Omphalocele, Single transve... |
OMIM:247200 |
| Hogue-Janssen Syndrome 2 |
|
Tented upper lip vermilion, Broad hallux, Postaxial polydactyly, Hip dysplasia, Deviation of the ... |
OMIM:616362 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Laurence-Moon Syndrome |
|
Polydactyly, Abnormality of the hand |
OMIM:245800 |
| Orofaciodigital Syndrome I |
|
Lobulated tongue, High palate, Syndactyly, Hamartoma of tongue, Cleft upper lip, Supernumerary to... |
OMIM:311200 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Radius, Aplasia Of, With Cleft Lip/Palate |
|
Absent radius, Cleft palate, Cleft upper lip |
OMIM:179400 |
| Joubert Syndrome 37 |
|
Microphthalmia, High palate, Postaxial polydactyly |
OMIM:619185 |
| Joubert Syndrome 14 |
|
Encephalocele, Tented upper lip vermilion, Postaxial polydactyly, Meningocele, Cleft palate, Shor... |
OMIM:614424 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Syndactyly, Postaxial polydactyly, Polyhydramnios, Preaxial polydactyly, Femoral bowing, Short lo... |
OMIM:615503 |
| Microcephaly-Micromelia Syndrome |
|
Micromelia, Absent thumb, Absent radius, Humeroradial synostosis, Cleft palate, Forearm undergrow... |
OMIM:251230 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Anophthalmia, Edema, Lymphedema, Thick vermilion border, Chylothorax, Long philtrum, Microphthalm... |
ORPHA:2526 |
| Holoprosencephaly 1 |
|
Microphthalmia, Facial cleft, Median cleft lip and palate |
OMIM:236100 |
| Bardet-Biedl Syndrome 3 |
|
Postaxial polydactyly, Brachydactyly |
OMIM:600151 |
| Charge Syndrome |
|
Delayed eruption of teeth, Anophthalmia, Polyhydramnios, Cleft upper lip, Abnormal soft palate mo... |
ORPHA:138 |
| Meckel Syndrome, Type 4 |
|
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Cl... |
OMIM:611134 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Lymphatic Malformation 5 |
|
Facial edema, Predominantly lower limb lymphedema, Cleft palate |
OMIM:153200 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Rhizomelia, Postaxial polydactyly, Edema, Polyhydramnios, Epiphyseal stippling, Abnormal pelvic g... |
OMIM:302960 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Accessory oral frenulum, Postaxial polydactyly, Aplastic clavicle, Micromelia, Hamartoma of tongu... |
OMIM:616546 |
| Charge Syndrome |
|
Anophthalmia, Abnormal palmar dermatoglyphics, Polyhydramnios, Hand monodactyly, Hypoplasia of th... |
OMIM:214800 |
| Meckel Syndrome 14 |
|
Syndactyly, Bowing of the long bones, Occipital encephalocele, Postaxial polydactyly, Postaxial h... |
OMIM:619879 |
| Joubert Syndrome 15 |
|
Preaxial polydactyly, Exencephaly |
OMIM:614464 |
| Roberts Syndrome |
|
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Polyhydramnios, High palate, Clinod... |
ORPHA:3103 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
| Joubert Syndrome 17 |
|
Preaxial polydactyly, Postaxial polydactyly, 3-4 finger syndactyly |
OMIM:614615 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Exaggerated median tongue furrow, Tented upper lip vermilion, Exaggerated cupid's bow, Submucous ... |
OMIM:608670 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Hip dysplasia, Abnormal tongue morphology, Polydactyly |
ORPHA:531151 |
| Microphthalmia, Syndromic 1 |
|
Anophthalmia, Dental crowding, Abnormal palmar dermatoglyphics, High, narrow palate, Rectal prola... |
OMIM:309800 |
| Basal Cell Nevus Syndrome 1 |
|
Odontogenic keratocysts of the jaw, Down-sloping shoulders, Spina bifida, Cleft upper lip, Palmar... |
OMIM:109400 |
| Phocomelia, Schinzel Type |
|
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab... |
ORPHA:2879 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Lobulated tongue, Syndactyly, Cleft upper lip, Postaxial foot polydactyl... |
OMIM:249000 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha... |
OMIM:617300 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Tented upper lip vermilion, Rocker bottom foot, Single transverse palmar crease, Postaxial polyda... |
OMIM:617527 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Postaxial polydactyly, Tapered finger, Abnormality of the dentition, Small hand, Hip dislocation,... |
OMIM:300968 |
| Van Der Woude Syndrome 2 |
|
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia |
OMIM:606713 |
| Pseudoaminopterin Syndrome |
|
Brachydactyly, Inguinal hernia, Overlapping toe, Single transverse palmar crease, Limited elbow m... |
ORPHA:221120 |
| Bardet-Biedl Syndrome 1 |
|
Syndactyly, Dental crowding, Aganglionic megacolon, Postaxial polydactyly, High, narrow palate, P... |
OMIM:209900 |
| Tarp Syndrome |
|
Finger syndactyly, Single transverse palmar crease, Rocker bottom foot, Postaxial polydactyly, Pi... |
ORPHA:2886 |
| Kinsship Syndrome |
|
Thin upper lip vermilion, Single transverse palmar crease, Coxa valga, Thick lower lip vermilion,... |
OMIM:619297 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Postaxial polydactyly, Esophageal varix, Hip dysplasia, Inflammation of the large intestine, Peau... |
OMIM:614576 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Natal tooth, Postaxial polydactyly, Hamartoma of tongue, Esophageal diverticulum, Cleft lip, Prea... |
OMIM:617925 |
| Branchiooculofacial Syndrome |
|
Anophthalmia, Single transverse palmar crease, Proximal placement of thumb, Cleft upper lip, Malr... |
OMIM:113620 |
| Cranioectodermal Dysplasia 2 |
|
Syndactyly, Inguinal hernia, Rhizomelia, Polyhydramnios, Postaxial hand polydactyly, Hydrops feta... |
OMIM:613610 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Anophthalmia, Optic nerve hypoplasia, Esophageal atresia, Microphthalmia |
OMIM:206900 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Van Der Woude Syndrome |
|
Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho... |
ORPHA:888 |
| Senior-Loken Syndrome 9 |
|
Polydactyly, Hypoplasia of the femoral head |
OMIM:616629 |
| Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
| Stromme Syndrome |
|
Jejunal atresia, Intestinal malrotation, Optic nerve hypoplasia, Preaxial polydactyly, Cleft pala... |
OMIM:243605 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
High palate, Deep philtrum, Tented upper lip vermilion, Polydactyly |
ORPHA:314655 |
| Cranioectodermal Dysplasia 3 |
|
Rhizomelia, Sandal gap, Postaxial polydactyly, 2-4 toe syndactyly, 2-3 toe syndactyly, Hypoplasia... |
OMIM:614099 |
| Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Palmar pits, Narrow mouth, Orofaci... |
ORPHA:77301 |
| Culler-Jones Syndrome |
|
Cleft palate, Postaxial polydactyly, Cleft upper lip |
OMIM:615849 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Adnp Syndrome |
|
Thin upper lip vermilion, Inguinal hernia, Broad hallux, Single transverse palmar crease, Sandal ... |
ORPHA:404448 |
| Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Cleft upp... |
OMIM:211350 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Postaxial polydactyly, Oligohydramnios |
OMIM:615824 |
| Helsmoortel-Van Der Aa Syndrome |
|
High, narrow palate, Oligodontia, Widely spaced teeth, Short 4th toe, Advanced eruption of teeth,... |
OMIM:615873 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Proboscis Lateralis |
|
Anophthalmia, Optic nerve hypoplasia, Agenesis of canine, Orofacial cleft, High palate, Long phil... |
ORPHA:141099 |
| Mend Syndrome |
|
Overlapping toe, Broad hallux, Long fingers, 2-3 toe syndactyly, Polydactyly, High palate, Macula... |
OMIM:300960 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Exaggerated cupid's bow, Postaxi... |
ORPHA:352665 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Postaxial polydactyly, Abnormally large globe |
OMIM:603387 |
| Au-Kline Syndrome |
|
Overlapping toe, Postaxial polydactyly, Coxa valga, Lipomyelomeningocele, Dental malocclusion, Cl... |
OMIM:616580 |
| Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Cleft lip, Cleft palate, Submucous cleft of soft and hard palate, Polyd... |
OMIM:301022 |
| Schneckenbecken Dysplasia |
|
Hypoplastic scapulae, Increased fibular diameter, Dumbbell-shaped long bone, Micromelia, Hypoplas... |
ORPHA:3144 |
| Rubinstein-Taybi Syndrome 1 |
|
Dental crowding, Single transverse palmar crease, Polyhydramnios, High, narrow palate, High palat... |
OMIM:180849 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Polyhydramnios, Postaxial hand ... |
OMIM:617088 |
| Pallister-Hall Syndrome |
|
Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accessory oral frenulum, Cleft lip, Umbilical ... |
ORPHA:672 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Anophthalmia, Cleft upper lip, Partial duplication of thumb phalanx, Cle... |
OMIM:164210 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Carpenter Syndrome 2 |
|
Single transverse palmar crease, High, narrow palate, Preaxial polydactyly, Coxa vara, Cutaneous ... |
OMIM:614976 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Anophthalmia, Abnormal dental enamel morphology, Abnormal rectum morphology, Microphthalmia, Abno... |
ORPHA:2556 |
| Okamoto Syndrome |
|
Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Tented upper lip vermilion, Intesti... |
ORPHA:2729 |
| Lethal Omphalocele-Cleft Palate Syndrome |
|
Omphalocele, Cleft soft palate, Cleft palate, Unilateral cleft lip, Bifid uvula |
ORPHA:2736 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Occipital encephalocele, Abnormal acetabulum morphology, Postaxial polydactyly, Rhizomelic leg sh... |
ORPHA:397715 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
| Rabson-Mendenhall Syndrome |
|
Dental crowding, Abnormality of the dentition, Gingival overgrowth, Furrowed tongue, Macroglossia... |
ORPHA:769 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Co... |
OMIM:149730 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Inguinal hernia, Broad hallux, Optic nerve hypoplasia, Postaxial polydactyly, Hip dysplasia, Clin... |
ORPHA:457284 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Polyhydramnios, Narrow greater sciatic notch, Short palm, Exaggerated median tongue furrow, Gingi... |
OMIM:312870 |
| Degcags Syndrome |
|
Smooth philtrum, Syndactyly, Toe syndactyly, Jejunal atresia, Polyhydramnios, Protruding tongue, ... |
OMIM:619488 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Toe syndactyly, Arachnodactyly, Pyloric stenosis, Oligohydramnios, Polydactyly, Ac... |
ORPHA:464306 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Single transverse palmar crease, Micromelia, Delayed epiphyseal ossification, Preaxial polydactyl... |
OMIM:210710 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Hallux valgus, Inguinal hernia, Cleft soft palate, Tapered finger, Abnormal toe morphology, Pylor... |
ORPHA:268261 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Faciocardiomelic Syndrome |
|
Dental malocclusion, Wide mouth, Slender long bone, Polydactyly, Hypoplastic pelvis, Long philtrum |
OMIM:612731 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Hallux valgus, Thin upper lip vermilion, Congenital hip dislocation, Overlapping toe, Postaxial p... |
ORPHA:480880 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talo... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Dental crowding, Polyhydramnios, High palate, Syndactyly, Broad hallux, Supernumerary tooth, Talo... |
ORPHA:353277 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Khan-Khan-Katsanis Syndrome |
|
Tented upper lip vermilion, Postaxial polydactyly, Triangular mouth, Buphthalmos, Clinodactyly |
OMIM:618460 |
| Orofaciodigital Syndrome Xiv |
|
Natal tooth, Occipital encephalocele, Broad hallux, Hamartoma of tongue, Cleft lip, Postaxial han... |
OMIM:615948 |
| Bardet-Biedl Syndrome 20 |
|
Preaxial foot polydactyly, Postaxial hand polydactyly, 2-3 toe syndactyly, Postaxial polydactyly |
OMIM:619471 |
| Joubert Syndrome 39 |
|
Occipital encephalocele, Joint contracture of the 5th finger, Postaxial polydactyly |
OMIM:619562 |
| Loeys-Dietz Syndrome 2 |
|
Syndactyly, Inguinal hernia, Arachnodactyly, Protrusio acetabuli, Postaxial polydactyly, Eosinoph... |
OMIM:610168 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Polydactyly, Orofacial cleft |
ORPHA:17 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Neurocardiofaciodigital Syndrome |
|
Syndactyly, Thin vermilion border, High palate, Polydactyly |
OMIM:619869 |
| Vater/Vacterl Association |
|
Syndactyly, Occipital encephalocele, Spina bifida, Absent radius, Short thumb, Esophageal atresia... |
OMIM:192350 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Syndactyly, Inguinal hernia, Postaxial polydactyly, Edema, Polyhydramnios, Broad first metatarsal... |
OMIM:619534 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Polydactyly, Abnormal digit morphology, Median cle... |
ORPHA:95494 |
| Legius Syndrome |
|
Clinodactyly of the 5th finger, Polydactyly, Diaphyseal dysplasia |
ORPHA:137605 |
