| Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
| Fryns Microphthalmia Syndrome |
|
Bilateral cleft lip and palate, Microphthalmia, Neural tube defect, Anophthalmia, Facial cleft |
OMIM:600776 |
| Facial Clefting, Oblique, 1 |
|
Deep palmar crease, Microphthalmia, Cleft palate, Cleft upper lip, Tessier number 4 facial cleft |
OMIM:600251 |
| Syndactyly Type 2 |
|
Postaxial foot polydactyly, Camptodactyly of finger, 3-4 finger syndactyly, Mesoaxial polydactyly... |
ORPHA:93403 |
| Anophthalmia Plus Syndrome |
|
Deviation of finger, Bilateral cleft lip and palate, Spina bifida, Cleft palate, Non-midline clef... |
ORPHA:1104 |
| Acrofacial Dysostosis, Weyers Type |
|
Conical tooth, Abnormality of the dentition, Overlapping fingers, Solitary median maxillary centr... |
ORPHA:952 |
| Oculomaxillofacial Dysostosis |
|
Camptodactyly of finger, Abnormality of the dentition, Abnormality of the humerus, Cleft palate, ... |
ORPHA:1794 |
| Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies |
|
Bilateral microphthalmos, Broad proximal phalanges of the hand, Optic nerve hypoplasia, Cleft pal... |
OMIM:607597 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Foot oligodactyly, Anterior encephalocele, Omphalocele, Short femur, Bilateral cleft lip, Bilater... |
OMIM:601357 |
| Cerebrooculonasal Syndrome |
|
High palate, Widely spaced teeth, Solitary median maxillary central incisor, Microdontia, U-Shape... |
ORPHA:66625 |
| Anencephaly 2 |
|
Median cleft palate, Anencephaly, Cleft maxillary alveolar ridge, Median cleft lip, Anophthalmia |
OMIM:619452 |
| Syndactyly, Type Iv |
|
Polydactyly, Postaxial polydactyly, 1-5 finger complete cutaneous syndactyly, Supernumerary metac... |
OMIM:186200 |
| Meckel Syndrome, Type 8 |
|
Encephalocele, Polydactyly, Occipital encephalocele, Microphthalmia, Cleft palate, Pericardial ef... |
OMIM:613885 |
| Congenital Radioulnar Synostosis |
|
Congenital hip dislocation, Limited pronation/supination of forearm, Polydactyly, Dislocated radi... |
ORPHA:3269 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Metatarsal synostosis, Cleft palate, Toe syndactyly, Single transverse palmar cr... |
OMIM:206920 |
| Hypertelorism, Microtia, Facial Clefting Syndrome |
|
Small thenar eminence, Cleft palate, Narrow mouth, Short 5th finger, 2-3 toe syndactyly, Cleft up... |
OMIM:239800 |
| Microphthalmia, Isolated, With Coloboma 5 |
|
Orofacial cleft, Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
| Acrofacial Dysostosis, Catania Type |
|
Inguinal hernia, Tooth agenesis, Abnormal palate morphology, Abnormality of the dentition, Finger... |
ORPHA:1786 |
| Pierre Robin Sequence With Facial And Digital Anomalies |
|
Short distal phalanx of finger, Tapered finger, Cleft palate, Glossoptosis, Pierre-Robin sequence... |
OMIM:311895 |
| Frontonasal Dysplasia 3 |
|
Cleft palate, Microphthalmia, Facial cleft |
OMIM:613456 |
| Congenital Absence Of Upper Arm And Forearm With Hand Present |
|
Polydactyly, Abnormal hip bone morphology, Syndactyly, Upper limb phocomelia, Cleft palate |
ORPHA:294975 |
| Triphalangeal Thumb, Nonopposable |
|
Triphalangeal thumb, Polydactyly |
OMIM:190600 |
| Short Rib-Polydactyly Syndrome |
|
Abnormal long bone morphology, Polydactyly, Short tibia, Cleft palate, Cone-shaped epiphysis, Bra... |
ORPHA:1505 |
| Constricting Bands, Congenital |
|
Encephalocele, Hand polydactyly, Syndactyly, Cleft palate, Omphalocele, Bladder exstrophy, Gastro... |
OMIM:217100 |
| Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
| Multiple Synostoses Syndrome 3 |
|
Metatarsal synostosis, Hallux varus, Cleft palate, Broad thumb, Humeroradial synostosis, Cubitus ... |
OMIM:612961 |
| Camptosynpolydactyly, Complex |
|
Camptodactyly, Syndactyly, Polydactyly, Cutaneous syndactyly |
OMIM:607539 |
| Hydrolethalus |
|
Bifid uvula, Unilateral cleft lip, Polyhydramnios, Submucous cleft hard palate, Microphthalmia, C... |
ORPHA:2189 |
| Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
| Arthrogryposis, Distal, Type 1C |
|
Increased nuchal translucency, Pursed lips, High palate, Camptodactyly of finger, Camptodactyly o... |
OMIM:619110 |
| Microphthalmia, Syndromic 12 |
|
Intestinal malrotation, Anophthalmia, Microphthalmia, Cleft palate |
OMIM:615524 |
| Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Congenital hip dislocation, Microphthalmia, Cleft palate, Anophthalmia |
OMIM:164180 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
| Mosaic Trisomy 9 |
|
High palate, Camptodactyly of finger, Hip dislocation, Spina bifida, Hydrops fetalis, Polyhydramn... |
ORPHA:99776 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Microphthalmia, Cleft palate, Non-midline cleft lip, Facial cleft |
ORPHA:1791 |
| Oculocerebrocutaneous Syndrome |
|
Short distal phalanx of finger, Hand polydactyly, Congenital hip dislocation, Finger syndactyly, ... |
ORPHA:1647 |
| Santos Syndrome |
|
Oligodactyly, Polydactyly, Postaxial polydactyly, Preaxial polydactyly, Syndactyly, Metatarsus ad... |
OMIM:613005 |
| Orofaciodigital Syndrome Xviii |
|
Short distal phalanx of finger, Diastema, Cleft lip, Preaxial polydactyly, Postaxial polydactyly,... |
OMIM:617927 |
| Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits |
|
Short distal phalanx of finger, Short thumb, Overlapping fingers, Overlapping toe, Hallux varus, ... |
OMIM:618167 |
| Trisomy 13 |
|
Abnormality of the dentition, Bilateral single transverse palmar creases, Hydrops fetalis, Ectrod... |
ORPHA:3378 |
| Polydactyly, Preaxial Iv |
|
1-5 toe syndactyly, 3-4 finger syndactyly, Preaxial polydactyly, Dysplastic distal thumb phalange... |
OMIM:174700 |
| Cardiomyopathy, Dilated, 1I |
|
Cardiomegaly, Dilated cardiomyopathy |
OMIM:604765 |
| Trisomy 1Q |
|
Increased nuchal translucency, Anal atresia, Camptodactyly of finger, Hydrops fetalis, Polyhydram... |
ORPHA:261344 |
| Fibular Hemimelia |
|
Oligodactyly, Short tibia, Toe syndactyly, Short toe, Fibular aplasia, Abnormal morphology of uln... |
ORPHA:93323 |
| Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
|
Camptodactyly of finger, Abnormal palate morphology, Microphthalmia, Tapered finger, Broad thumb,... |
ORPHA:1236 |
| Split-Hand/Foot Malformation 1 |
|
Foot oligodactyly, Ectrodactyly, Syndactyly, Cleft palate, Broad hallux, Clinodactyly, Triphalang... |
OMIM:183600 |
| Robin Sequence-Oligodactyly Syndrome |
|
Abnormality of the dentition, Abnormal metacarpal morphology, Cleft palate, Glossoptosis, Abnorma... |
ORPHA:3104 |
| Unilateral Ocular Duplication |
|
Encephalocele, Midline facial cleft, Polyhydramnios, Cleft palate, Median cleft lip |
ORPHA:3374 |
| Bardet-Biedl Syndrome 5 |
|
Syndactyly, Polydactyly, Brachydactyly |
OMIM:615983 |
| Mycophenolate Mofetil Embryopathy |
|
Hydrops fetalis, Foot polydactyly, Microphthalmia, Short palm, Tracheoesophageal fistula, Orofaci... |
ORPHA:268249 |
| Bardet-Biedl Syndrome 7 |
|
Polydactyly, Postaxial polydactyly, Narrow mouth, 2-3 toe syndactyly, Clinodactyly |
OMIM:615984 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Cleft palate, Radioulnar synostosis, Clinodactyly, Cleft upper lip, Facial ... |
OMIM:248340 |
| Microphthalmia With Limb Anomalies |
|
Hip dislocation, Short tibia, Abnormality of the upper limb, Cleft palate, Toe syndactyly, Broad ... |
ORPHA:1106 |
| Supernumerary Nostril |
|
Facial cleft |
ORPHA:141096 |
| Acromelic Frontonasal Dysostosis |
|
Encephalocele, Midline facial cleft, Polydactyly, Preaxial polydactyly, Short tibia, Syndactyly, ... |
OMIM:603671 |
| Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Meningocele, Microphthalmia, Cleft palate, Omphalocele, Anencephaly, ... |
OMIM:603194 |
| Jawad Syndrome |
|
Hallux valgus, Postaxial polydactyly, Short middle phalanx of the 5th finger, 4-5 toe syndactyly,... |
OMIM:251255 |
| Microphthalmia With Brain And Digit Anomalies |
|
Postaxial foot polydactyly, High palate, Proximal placement of thumb, Finger syndactyly, Micropht... |
ORPHA:139471 |
| Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Everted lower lip vermilion, Short philtrum, Thick vermilion border, Abnormal spaced incisors, An... |
ORPHA:411986 |
| Bartsocas-Papas Syndrome 1 |
|
Oligodactyly, Inguinal hernia, Short thumb, Cleft palate, Cleft upper lip, Short phalanx of finge... |
OMIM:263650 |
| Bardet-Biedl Syndrome 11 |
|
Polydactyly |
OMIM:615988 |
| Orofaciodigital Syndrome Viii |
|
High palate, Polydactyly, Short tibia, Syndactyly, Cleft palate, Median cleft lip |
OMIM:300484 |
| Microphthalmia, Isolated 4 |
|
Microphthalmia, Postaxial polydactyly |
OMIM:613094 |
| Split hand/foot malformation 1 (SHFM1) |
|
Cleft palate, Toe syndactyly, 2-3 toe syndactyly, Median cleft lip, Cutaneous finger syndactyly, ... |
DECIPHER:46 |
| Bardet-Biedl Syndrome 14 |
|
Polydactyly |
OMIM:615991 |
| Bardet-Biedl Syndrome 13 |
|
Polydactyly |
OMIM:615990 |
| Orofaciodigital Syndrome Iv |
|
Short finger, Clinodactyly, High palate, Hand polydactyly, Postaxial polydactyly, Short tibia, Fo... |
OMIM:258860 |
| Treacher-Collins Syndrome |
|
Encephalocele, High palate, Abnormality of the dentition, Tooth agenesis, Abnormality of dental m... |
ORPHA:861 |
| Al-Gazali-Bakalinova Syndrome |
|
Inguinal hernia, Polydactyly, Flattened epiphysis, Tapered finger, Triangular mouth, Lymphedema, ... |
OMIM:607131 |
| Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Camptodactyly of finger, Spina bifida, Finger syndactyly, Synosto... |
ORPHA:957 |
| Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly |
|
High palate, Short distal phalanx of finger, Agenesis of permanent teeth, Polydactyly, Short ling... |
OMIM:614091 |
| Bardet-Biedl Syndrome 4 |
|
Abnormality of the dentition, Syndactyly, Polydactyly, Brachydactyly |
OMIM:615982 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Camptodactyly of finger, Microphthalmia, Cleft palate, Brachydactyly, Finger clinodactyly, Pector... |
ORPHA:306542 |
| Meckel Syndrome, Type 11 |
|
Occipital encephalocele, Oligohydramnios, Polydactyly |
OMIM:615397 |
| Microgastria-Limb Reduction Defect Syndrome |
|
Oligodactyly, Abnormality of the humerus, Absent hand, Short thumb, Microgastria, Rectovaginal fi... |
ORPHA:2538 |
| Bardet-Biedl Syndrome 10 |
|
Polydactyly |
OMIM:615987 |
| Cerebrooculonasal Syndrome |
|
Encephalocele, High palate, Postaxial polydactyly, Broad philtrum, Solitary median maxillary cent... |
OMIM:605627 |
| Orofaciodigital Syndrome Xi |
|
Postaxial polydactyly, Cleft palate |
OMIM:612913 |
| Carpenter Syndrome |
|
Polydactyly, Umbilical hernia, Finger syndactyly, Syndactyly, Preaxial foot polydactyly, Toe synd... |
ORPHA:65759 |
| Solitary Median Maxillary Central Incisor |
|
Solitary median maxillary central incisor, Microphthalmia, Prominent median palatal raphe, Torus ... |
OMIM:147250 |
| Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
| Orofaciodigital Syndrome Xvii |
|
Clinodactyly, Polydactyly, High, narrow palate, Clubbing of fingers, Partial duplication of thumb... |
OMIM:617926 |
| Acropectoral Syndrome |
|
Partial duplication of thumb phalanx, Triphalangeal thumb, Preaxial polydactyly |
OMIM:605967 |
| Polydactyly, Postaxial, Type A8 |
|
Genu valgum, Postaxial polydactyly |
OMIM:618123 |
| Meckel Syndrome, Type 5 |
|
Postaxial foot polydactyly, Occipital encephalocele, Microphthalmia, Anencephaly, Cleft palate, P... |
OMIM:611561 |
| Fraser Syndrome 1 |
|
Encephalocele, Bilateral microphthalmos, Difficulty in tongue movements, Myelomeningocele, Abnorm... |
OMIM:219000 |
| Polydactyly, Preaxial Iii |
|
Triphalangeal thumb, Preaxial polydactyly |
OMIM:174600 |
| Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
| Microphthalmia, Syndromic 8 |
|
Microphthalmia, Cleft palate, Cleft upper lip, Widely-spaced maxillary central incisors, Orofacia... |
OMIM:601349 |
| Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Spina bifida, Cleft palate, Anencephaly, Ectopic anus, Non-midline cleft lip, Gastroschisis, Apla... |
ORPHA:2476 |
| Synpolydactyly 2 |
|
Polydactyly, Metatarsal synostosis, Toe syndactyly, Carpal synostosis, Metacarpal synostosis, Tar... |
OMIM:608180 |
| Meckel Syndrome, Type 10 |
|
Postaxial foot polydactyly, Camptodactyly, Bifid uvula, Postaxial polydactyly, Ulnar deviation of... |
OMIM:614175 |
| Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Angel-shaped phalanx, Short distal phalanx of finger, Postaxial polydactyly, Flat acetabular roof... |
OMIM:617102 |
| Orofaciodigital Syndrome Type 10 |
|
Oligodactyly, Preaxial polydactyly, Metatarsal synostosis, Polysyndactyly of hallux, Radial devia... |
ORPHA:2756 |
| Joubert Syndrome 18 |
|
Camptodactyly, Postaxial polydactyly, Trident pelvis, Occipital encephalocele, Cleft palate, Tali... |
OMIM:614815 |
| Frontonasal Dysplasia 2 |
|
Conical tooth, Encephalocele, Broad philtrum, Widely spaced teeth, Microphthalmia, Oligohydramnio... |
OMIM:613451 |
| Silver-Russell Syndrome Due To An Imprinting Defect Of 11P15 |
|
High palate, Polydactyly, Dental crowding, Upper limb asymmetry, Clinodactyly of the 5th finger |
ORPHA:231140 |
| Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome |
|
Camptodactyly of finger, Inguinal hernia, Ulnar deviation of finger, Umbilical hernia, High, narr... |
ORPHA:1101 |
| Walker-Warburg Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Microphthalmia, Cleft palate, Anophthalmia, Metatarsus ... |
ORPHA:899 |
| Oculofaciocardiodental Syndrome |
|
Oligodontia, Tooth malposition, Short thumb, Solitary median maxillary central incisor, Cleft pal... |
ORPHA:2712 |
| Focal Dermal Hypoplasia |
|
Oligodontia, Inguinal hernia, Short metatarsal, Cleft palate, Toe syndactyly, Cleft upper lip, Sh... |
OMIM:305600 |
| Silver-Russell Syndrome Due To A Point Mutation |
|
Inguinal hernia, Polydactyly, Ectrodactyly, Syndactyly, Cleft palate, Small placenta, Short 5th f... |
ORPHA:397590 |
| Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome |
|
Polydactyly, Smooth philtrum, Microphthalmia, Syndactyly |
OMIM:602501 |
| Otopalatodigital Syndrome, Type I |
|
Short distal phalanx of finger, Hip dislocation, Selective tooth agenesis, Abnormality of the fif... |
OMIM:311300 |
| 17Q12 Microduplication Syndrome |
|
Polyhydramnios, Finger syndactyly, Microphthalmia, Cleft palate, Toe syndactyly, Tracheoesophagea... |
ORPHA:261272 |
| Laurin-Sandrow Syndrome |
|
Limb duplication, Absent radius, Absent tibia, Finger syndactyly, Abnormality of the wrist, Aplas... |
ORPHA:2378 |
| Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Esophageal atresia, Anal atresia, Abnormal metaphysis morphology, Hydrops fetalis, Omphalocele, L... |
ORPHA:93271 |
| Vacterl With Hydrocephalus |
|
Esophageal atresia, Inguinal hernia, Anal atresia, Hip dislocation, Spina bifida, Arrhinencephaly... |
ORPHA:3412 |
| Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Inguinal hernia, Tooth malposition, Bifid uvula, Submucous cleft hard palate, Microphthalmia, Cle... |
ORPHA:2250 |
| 3P25.3 Microdeletion Syndrome |
|
Congenital pseudoarthrosis of the clavicle, 2-3 finger syndactyly, Pyloric stenosis, Proximal pla... |
ORPHA:435638 |
| Orofaciodigital Syndrome Vi |
|
Incomplete cleft of the upper lip, Cleft palate, Preaxial foot polydactyly, Toe syndactyly, Fibul... |
OMIM:277170 |
| Joubert Syndrome 10 |
|
Deep philtrum, Postaxial polydactyly, Thick vermilion border |
OMIM:300804 |
| Temtamy Preaxial Brachydactyly Syndrome |
|
Diastema, Deep philtrum, Talon cusp, Short metatarsal, Microdontia, Syndactyly, Cleft palate, Sho... |
OMIM:605282 |
| Meckel Syndrome |
|
Encephalocele, Postaxial foot polydactyly, Aplasia/Hypoplasia of the tongue, Microphthalmia, Clef... |
ORPHA:564 |
| Suleiman-El-Hattab Syndrome |
|
High palate, Inguinal hernia, Polydactyly, Downturned corners of mouth, Long philtrum, Smooth phi... |
OMIM:618950 |
| Mohr Syndrome |
|
Partial duplication of the phalanges of the hallux, High palate, Postaxial foot polydactyly, Synd... |
OMIM:252100 |
| Cockayne Syndrome Type 2 |
|
Widely spaced primary teeth, Anodontia, Enamel hypoplasia, Hypoplasia of the primary teeth, Anoph... |
ORPHA:90322 |
| Meckel Syndrome, Type 3 |
|
Postaxial foot polydactyly, Polydactyly, Occipital encephalocele, Cleft palate, Postaxial hand po... |
OMIM:607361 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Postaxial polydactyly, Dental crowding, Downturned corners of mouth, Long philtrum, Smooth philtr... |
OMIM:615761 |
| Weyers Ulnar Ray/Oligodactyly Syndrome |
|
High palate, Proximal radial head dislocation, Proximal placement of thumb, Solitary median maxil... |
OMIM:602418 |
| Tibial Hemimelia |
|
Oligodactyly, Hip dislocation, Hip dysplasia, Polydactyly, Short tibia, Cleft palate, Cutaneous f... |
ORPHA:93322 |
| Hydrolethalus Syndrome 2 |
|
Postaxial foot polydactyly, Preaxial foot polydactyly, Anencephaly, Cleft palate, Postaxial hand ... |
OMIM:614120 |
| Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Postaxial foot polydactyly, Bifid uvula, Postaxial polydactyly, Deep philtrum, Microphthalmia, Cl... |
ORPHA:404440 |
| Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome |
|
Occipital encephalocele, Postaxial polydactyly |
OMIM:213010 |
| Microphthalmia, Syndromic 5 |
|
Cleft palate, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:610125 |
| Pelger-Huet Anomaly |
|
Median cleft palate, Abnormality of the dentition, Polydactyly, Umbilical hernia, Short 4th metac... |
OMIM:169400 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar aplasia, High palate, Wide capital femoral epiphyses, Patellar hypoplasia, Cleft palate,... |
OMIM:147891 |
| Biemond Syndrome Type 2 |
|
Microphthalmia, Preaxial polydactyly |
ORPHA:141333 |
| Multiple Epiphyseal Dysplasia Type 4 |
|
Hip dysplasia, Short thumb, Metatarsal synostosis, Flattened epiphysis, Short metatarsal, Cleft p... |
ORPHA:93307 |
| Limb-Mammary Syndrome |
|
Camptodactyly, Hallux valgus, Bifid uvula, Syndactyly, Cleft palate, Hypodontia, Joint contractur... |
OMIM:603543 |
| Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Metaphyseal spurs, Anal atresia, Absent tibia, Preaxial polydactyly, Metaphyseal widening, Postax... |
OMIM:613091 |
| Bardet-Biedl Syndrome 16 |
|
Polydactyly |
OMIM:615993 |
| Isolated Arrhinia |
|
Microphthalmia, Facial cleft |
ORPHA:1134 |
| Platyspondylic Dysplasia, Torrance Type |
|
Short distal phalanx of finger, Genu varum, Hydrops fetalis, Metaphyseal cupping, Polyhydramnios,... |
ORPHA:85166 |
| Bardet-Biedl Syndrome 9 |
|
Postaxial foot polydactyly, Polydactyly, Postaxial polydactyly, Syndactyly, Postaxial hand polyda... |
OMIM:615986 |
| Holoprosencephaly 9 |
|
Bilateral cleft lip and palate, Short hard palate, Solitary median maxillary central incisor, Mic... |
OMIM:610829 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Bilateral single transverse palmar creases, Finger syndactyly, Short 4th met... |
ORPHA:264200 |
| Syngap1-Related Developmental And Epileptic Encephalopathy |
|
High palate, Abnormal tongue physiology, Postaxial polydactyly, Narrow mouth, Thin vermilion bord... |
ORPHA:544254 |
| Holoprosencephaly |
|
Encephalocele, Spinal dysraphism, Hand polydactyly, Tooth agenesis, Median cleft lip and palate, ... |
ORPHA:2162 |
| Manitoba Oculotrichoanal Syndrome |
|
Anteriorly placed anus, Microphthalmia, Omphalocele, Anophthalmia, Anal stenosis |
OMIM:248450 |
| Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Brachydactyly, Polyhydramnios, Short long bone, Postaxial polydactyly |
OMIM:615633 |
| Orofaciodigital Syndrome V |
|
High palate, Postaxial foot polydactyly, Bifid uvula, Postaxial polydactyly, Ankyloglossia, Agang... |
OMIM:174300 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Anal atresia, High palate, Postaxial polydactyly, Overlapping toe, Tapered finger, Downturned cor... |
OMIM:613792 |
| Ivic Syndrome |
|
Short thumb, Carpal synostosis, Short 1st metacarpal, Triphalangeal thumb, Hypoplasia of the radi... |
OMIM:147750 |
| Septooptic Dysplasia |
|
Short finger, Polydactyly, Optic disc hypoplasia, Optic nerve hypoplasia |
OMIM:182230 |
| 20P13 Microdeletion Syndrome |
|
Polydactyly, Finger syndactyly, Tented upper lip vermilion, Smooth philtrum, Clinodactyly, Thin u... |
ORPHA:313781 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
3-4 finger syndactyly, Microphthalmia, Long philtrum, 2-3 toe syndactyly, Anophthalmia |
OMIM:615877 |
| Achondrogenesis, Type Ii |
|
Abnormally large globe, Edema, Hydrops fetalis, Polyhydramnios, Broad long bones, Cleft palate, S... |
OMIM:200610 |
| Microphthalmia, Syndromic 2 |
|
Oligodontia, Bifid uvula, Supernumerary tooth, Hand clenching, Contracture of the proximal interp... |
OMIM:300166 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Tracheoesophageal fistula, Esophageal atresia, Anophthalmia, Microphthalmia |
ORPHA:77298 |
| Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Encephalocele, Anal atresia, Cleft lip, Preaxial polydactyly, Flat acetabular roof, Postaxial pol... |
OMIM:616300 |
| Bardet-Biedl Syndrome 22 |
|
Postaxial foot polydactyly, Polydactyly |
OMIM:617119 |
| Acrocallosal Syndrome |
|
Inguinal hernia, Bifid uvula, Cleft palate, Preaxial foot polydactyly, Narrow mouth, Prominent pa... |
OMIM:200990 |
| Oculotrichoanal Syndrome |
|
Anal stenosis, Anophthalmia, Anteriorly placed anus, Microphthalmia |
ORPHA:2717 |
| Nevus Comedonicus Syndrome |
|
Preaxial polydactyly, Spina bifida, Finger syndactyly, Toe syndactyly, Spina bifida occulta |
ORPHA:64754 |
| Otopalatodigital Syndrome Type 2 |
|
Oligodontia, Camptodactyly of finger, Short thumb, Cleft palate, Narrow mouth, Flared iliac wing,... |
ORPHA:90652 |
| Tarp Syndrome |
|
High palate, Bilateral talipes equinovarus, Postaxial polydactyly, Hypoplasia of the radius, Deep... |
OMIM:311900 |
| Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
High palate, Bilateral talipes equinovarus, Preaxial polydactyly, Overlapping toe, Postaxial poly... |
OMIM:618142 |
| Congenital Sialidosis Type 2 |
|
Hypoplasia of the fovea, Inguinal hernia, Polydactyly, Edema, Umbilical hernia, Protruding tongue... |
ORPHA:93400 |
| Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomyocyte hypertrophy, Concentric hypertrophic cardiomyopathy, Right ventricular hypertrophy,... |
OMIM:618052 |
| Nephronophthisis 15 |
|
Polydactyly |
OMIM:614845 |
| Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Postaxial polydactyly |
OMIM:619582 |
| Endocrine-Cerebroosteodysplasia |
|
Median cleft palate, Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly... |
OMIM:612651 |
| Cockayne Syndrome Type 1 |
|
Abnormality of the dentition, Widely spaced primary teeth, Anodontia, Enamel hypoplasia, Hypoplas... |
ORPHA:90321 |
| Bardet-Biedl Syndrome 17 |
|
Postaxial foot polydactyly, Polydactyly, Mesoaxial polydactyly, Short fourth metatarsal, Mesoaxia... |
OMIM:615994 |
| Orofaciodigital Syndrome Type 6 |
|
High palate, Hand polydactyly, Mesoaxial polydactyly, Preaxial polydactyly, Syndactyly, Foot poly... |
ORPHA:2754 |
| Cardioacrofacial Dysplasia 1 |
|
Conical tooth, Diastema, Postaxial polydactyly, Accessory oral frenulum, Short philtrum, Genu valgum |
OMIM:619142 |
| Fraser Syndrome |
|
Encephalocele, Anal atresia, High palate, Myelomeningocele, Umbilical hernia, Finger syndactyly, ... |
ORPHA:2052 |
| Matthew-Wood Syndrome |
|
Duodenal stenosis, Anophthalmia, Microphthalmia |
ORPHA:2470 |
| Rhombencephalosynapsis |
|
Esophageal atresia, Anal atresia, Polydactyly, Finger syndactyly, Septo-optic dysplasia, Aganglio... |
ORPHA:59315 |
| Microphthalmia, Syndromic 6 |
|
High palate, Bifid uvula, Polydactyly, Finger syndactyly, Abnormality of the hand, Microphthalmia... |
OMIM:607932 |
| Bryant-Li-Bhoj Neurodevelopmental Syndrome 2 |
|
Postaxial polydactyly, Tapered finger, Broad thumb, Long philtrum, Prominent fingertip pads, Arac... |
OMIM:619721 |
| Joubert Syndrome 27 |
|
Polydactyly, Thick lower lip vermilion |
OMIM:617120 |
| Duane-Radial Ray Syndrome |
|
Optic disc hypoplasia, Short thumb, Aplasia of metacarpal bones, Shoulder dislocation, Hypoplasia... |
OMIM:607323 |
| Tibia, Hypoplasia Or Aplasia Of, With Polydactyly |
|
Absent tibia, Preaxial polydactyly, Short tibia, Triphalangeal thumb, Fibular duplication |
OMIM:188740 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Hypoplastic ilia, Postaxial polydactyly, Syndactyly, Omphalocele, Long philtrum, Hypoplasia of th... |
OMIM:617895 |
| Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3 |
|
Hypoplastic ischia, Polydactyly |
OMIM:616910 |
| Joubert Syndrome 16 |
|
Encephalocele, Polydactyly |
OMIM:614465 |
| Orofaciodigital Syndrome I |
|
Agenesis of permanent teeth, Polydactyly, Ankyloglossia, Cleft palate, Supernumerary tooth, Cario... |
OMIM:311200 |
| Hypoglossia-Hypodactyly Syndrome |
|
Anal atresia, High palate, Aplasia/Hypoplasia of the tongue, Short distal phalanx of finger, Jeju... |
ORPHA:989 |
| Miller-Dieker Lissencephaly Syndrome |
|
Camptodactyly, Inguinal hernia, Duodenal atresia, Polydactyly, Polyhydramnios, Deep palmar crease... |
OMIM:247200 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Edema, Microphthalmia, Long philtrum, Lymphedema, Thick vermilion border, Pleural effusion, Anoph... |
ORPHA:2526 |
| Joubert Syndrome 14 |
|
Encephalocele, Open mouth, Postaxial polydactyly, Meningocele, Microphthalmia, Cleft palate, Tent... |
OMIM:614424 |
| Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Cleft lower alveolar ridge, Hip dislocation, Bifid uvula, Proximal placement of thumb, Short thum... |
OMIM:268305 |
| Orofaciodigital Syndrome Type 2 |
|
Y-shaped metacarpals, Polysyndactyly of hallux, Short tibia, Cleft palate, Preaxial foot polydact... |
ORPHA:2751 |
| Cone-Rod Dystrophy 16 |
|
Postaxial polydactyly |
OMIM:614500 |
| Intellectual Developmental Disorder, Autosomal Dominant 36 |
|
Open mouth, Hip dysplasia, Postaxial polydactyly, Tented upper lip vermilion, Deviation of the 5t... |
OMIM:616362 |
| Charge Syndrome |
|
Abnormal soft palate morphology, Polyhydramnios, Bifid femur, Microphthalmia, Cleft palate, Brach... |
ORPHA:138 |
| Charge Syndrome |
|
Short thumb, Cleft palate, Unilateral microphthalmos, Cleft upper lip, Anal stenosis, Down-slopin... |
OMIM:214800 |
| Joubert Syndrome 37 |
|
High palate, Microphthalmia, Postaxial polydactyly |
OMIM:619185 |
| Short-Rib Thoracic Dysplasia 18 With Polydactyly |
|
Single transverse palmar crease, Preaxial polydactyly, Postaxial polydactyly, Ulnar bowing, Hypop... |
OMIM:617866 |
| Joubert Syndrome 20 |
|
4-5 toe syndactyly, Postaxial polydactyly |
OMIM:614970 |
| Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Polyhydramnios, Syndactyly, Short long bone, Acetabu... |
OMIM:615503 |
| Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly |
|
Short long bone, Polydactyly, Brachydactyly |
OMIM:613819 |
| Meckel Syndrome 14 |
|
Increased nuchal translucency, Postaxial foot polydactyly, Postaxial polydactyly, Occipital encep... |
OMIM:619879 |
| Retinitis Pigmentosa 89 |
|
Esophageal varix, Postaxial polydactyly |
OMIM:618955 |
| Joubert Syndrome 23 |
|
Polydactyly |
OMIM:616490 |
| Joubert Syndrome 7 |
|
Encephalocele, Postaxial hand polydactyly, Genu valgum, Postaxial polydactyly |
OMIM:611560 |
| Laurence-Moon Syndrome |
|
Abnormality of the hand, Polydactyly |
OMIM:245800 |
| Bardet-Biedl Syndrome 19 |
|
Postaxial polydactyly |
OMIM:615996 |
| Basal Cell Nevus Syndrome 1 |
|
Down-sloping shoulders, Palmar pits, Polydactyly, Spina bifida, Odontogenic keratocysts of the ja... |
OMIM:109400 |
| Holoprosencephaly 1 |
|
Median cleft lip and palate, Microphthalmia, Facial cleft |
OMIM:236100 |
| Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
| Microphthalmia, Syndromic 9 |
|
Inguinal hernia, Anophthalmia, Bilateral microphthalmos |
OMIM:601186 |
| Microphthalmia, Syndromic 1 |
|
Tooth malposition, Rectal prolapse, Cleft upper lip, Joint contracture of the hand, Down-sloping ... |
OMIM:309800 |
| Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Preaxial polydactyly, Postaxial polydactyly, Hydrops fetalis, Polyhydramnios, Accessory oral fren... |
OMIM:616546 |
| Meckel Syndrome, Type 1 |
|
Camptodactyly of finger, Occipital encephalocele, Cleft palate, Smooth philtrum, Lobulated tongue... |
OMIM:249000 |
| Bardet-Biedl Syndrome 3 |
|
Brachydactyly, Postaxial polydactyly |
OMIM:600151 |
| Lymphatic Malformation 7 |
|
Nonimmune hydrops fetalis, Increased nuchal translucency, Edema, Facial edema, Pulmonary edema, L... |
OMIM:617300 |
| 9Q21.13 Microdeletion Syndrome |
|
Downturned corners of mouth, Abnormal tongue morphology, Hip dysplasia, Polydactyly |
ORPHA:531151 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Stippled calcification in carpal bones, Bilateral talipes equinovarus, Postaxial polydactyly, Ede... |
OMIM:302960 |
| Bardet-Biedl Syndrome 8 |
|
Postaxial polydactyly |
OMIM:615985 |
| Phocomelia, Schinzel Type |
|
Aplasia of the ulna, Foot oligodactyly, Anal atresia, Aplasia/Hypoplasia involving the pelvis, Me... |
ORPHA:2879 |
| Microphthalmia, Syndromic 3 |
|
Esophageal atresia, Optic nerve aplasia, Microphthalmia, Optic nerve hypoplasia, Anophthalmia |
OMIM:206900 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
High palate, Edema, Postaxial polydactyly, Rocker bottom foot, Tented upper lip vermilion, Long f... |
OMIM:617527 |
| Branchiooculofacial Syndrome |
|
Preaxial hand polydactyly, Malrotation of colon, Abnormality of the dentition, Pyloric stenosis, ... |
OMIM:113620 |
| Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Anal atresia, Abnormality of the dentition, Hip dislocation, Hip dysplasia, Bifid uvula, Postaxia... |
OMIM:300968 |
| Pseudoaminopterin Syndrome |
|
High palate, Inguinal hernia, Clinodactyly of the 5th toe, Short thumb, Postaxial polydactyly, Ov... |
ORPHA:221120 |
| Joubert Syndrome 17 |
|
Postaxial polydactyly, 3-4 finger syndactyly, Preaxial polydactyly |
OMIM:614615 |
| Congenital Tricuspid Valve Dysplasia |
|
Abnormal tricuspid valve leaflet morphology, Tricuspid valve prolapse, Hepatomegaly, Right ventri... |
ORPHA:555874 |
| Bardet-Biedl Syndrome 1 |
|
High palate, Postaxial foot polydactyly, Postaxial polydactyly, Syndactyly, Aganglionic megacolon... |
OMIM:209900 |
| Retinitis Pigmentosa 51 |
|
Polydactyly |
OMIM:613464 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Inflammation of the large intestine, Hip dysplasia, Postaxial polydactyly, Enamel hypoplasia, Eso... |
OMIM:614576 |
| Tarp Syndrome |
|
Clinodactyly, Hand polydactyly, Hypoplasia of proximal radius, Postaxial polydactyly, Finger synd... |
ORPHA:2886 |
| Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Anal atresia, Cleft lip, Preaxial polydactyly, Postaxial polydactyly, Short tibia, Microphthalmia... |
OMIM:617925 |
| Kinsship Syndrome |
|
Hip dislocation, Polydactyly, Ankyloglossia, Widely spaced teeth, Coxa valga, Dislocated radial h... |
OMIM:619297 |
| Proboscis Lateralis |
|
High palate, Microphthalmia, Optic nerve hypoplasia, Long philtrum, Agenesis of canine, Anophthal... |
ORPHA:141099 |
| Cranioectodermal Dysplasia 2 |
|
High palate, Inguinal hernia, Polydactyly, Hydrops fetalis, Polyhydramnios, Broad philtrum, Widel... |
OMIM:613610 |
| Adnp Syndrome |
|
Inguinal hernia, Polydactyly, Umbilical hernia, Abnormal finger morphology, Abnormal toe morpholo... |
ORPHA:404448 |
| Monosomy 9Q22.3 |
|
Palmar pits, Polydactyly, Odontogenic keratocysts of the jaw, Umbilical hernia, Microphthalmia, N... |
ORPHA:77301 |
| Stromme Syndrome |
|
Duodenal atresia, Preaxial polydactyly, Jejunal atresia, Microphthalmia, Optic nerve hypoplasia, ... |
OMIM:243605 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Macroglossia, Increased nuchal translucency, Open mouth, Tooth agenesis, Hip dysplasia, Bifid uvu... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Macroglossia, Increased nuchal translucency, Open mouth, Tooth agenesis, Hip dysplasia, Bifid uvu... |
ORPHA:352665 |
| Rubinstein-Taybi Syndrome 1 |
|
Short thumb, Polydactyly, Cleft palate, Narrow mouth, Narrow palate, Flared iliac wing, Smooth ph... |
OMIM:180849 |
| Helsmoortel-Van Der Aa Syndrome |
|
Oligodontia, Polydactyly, Ankyloglossia, Widely spaced teeth, Thin vermilion border, Smooth philt... |
OMIM:615873 |
| Au-Kline Syndrome |
|
Oligodontia, Open mouth, High palate, Hip dysplasia, Bifid uvula, Postaxial polydactyly, Overlapp... |
OMIM:616580 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Tented upper lip vermilion, Deep philtrum, Polydactyly, High palate |
ORPHA:314655 |
| Senior-Loken Syndrome 9 |
|
Hypoplasia of the femoral head, Polydactyly |
OMIM:616629 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 7 |
|
Oligohydramnios, Postaxial polydactyly |
OMIM:615824 |
| Mend Syndrome |
|
High palate, Polydactyly, Overlapping toe, Long fingers, Smooth philtrum, 2-3 toe syndactyly, Bro... |
OMIM:300960 |
| Conotruncal Heart Malformations |
|
Broad hallux, Postaxial polydactyly |
OMIM:217095 |
| Mullegama-Klein-Martinez Syndrome |
|
Bifid uvula, Cleft lip, Polydactyly, Cleft palate, Long philtrum, Smooth philtrum, Short philtrum... |
OMIM:301022 |
| Cranioectodermal Dysplasia 3 |
|
2-4 toe syndactyly, Hypoplasia of teeth, Postaxial polydactyly, Widely spaced teeth, Everted lowe... |
OMIM:614099 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Anophthalmia |
OMIM:615636 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Abnormally large globe, Postaxial polydactyly |
OMIM:603387 |
| Pallister-Hall Syndrome |
|
Oligodactyly, Inguinal hernia, Hip dislocation, Bifid uvula, Mesoaxial polydactyly, Cleft palate,... |
ORPHA:672 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of the anus, Microphthalmia, Abnormal dental enamel morphology, Abnormal rectum morph... |
ORPHA:2556 |
| Bardet-Biedl Syndrome 6 |
|
Syndactyly, Postaxial polydactyly |
OMIM:605231 |
| Culler-Jones Syndrome |
|
Cleft upper lip, Postaxial polydactyly, Cleft palate |
OMIM:615849 |
| Craniofacial Microsomia |
|
Transverse facial cleft, Occipital encephalocele, Microphthalmia, Cleft palate, Partial duplicati... |
OMIM:164210 |
| Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Postaxial polydactyly, Polyhydramnios, Accessory oral frenulum, Short clavicles, Short long bone,... |
OMIM:617088 |
| Carpenter Syndrome 2 |
|
Broad thumb, Narrow palate, Carious teeth, Single transverse palmar crease, Cutaneous finger synd... |
OMIM:614976 |
| Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome |
|
Preaxial polydactyly |
ORPHA:2921 |
| Okamoto Syndrome |
|
Open mouth, Hip dysplasia, Abnormally large globe, Polydactyly, Cleft palate, Omphalocele, Tented... |
ORPHA:2729 |
| Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Short distal phalanx of finger, Inguinal hernia, Short greater sciatic notch, Submucous cleft lip... |
OMIM:312870 |
| Rabson-Mendenhall Syndrome |
|
Macroglossia, High palate, Abnormality of the dentition, Polydactyly, Dental crowding, Advanced e... |
ORPHA:769 |
| Lacrimoauriculodentodigital Syndrome 1 |
|
Short thumb, Absent proximal phalanx of thumb, Carious teeth, Hypoplasia of the radius, Triphalan... |
OMIM:149730 |
| Bardet-Biedl Syndrome 12 |
|
Postaxial foot polydactyly, Postaxial hand polydactyly, Polydactyly |
OMIM:615989 |
| Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Early ossification of capital femoral epiphyses, Postaxial polydactyly, Meningocele, Occipital en... |
ORPHA:397715 |
| Degcags Syndrome |
|
High palate, Pyloric stenosis, Short thumb, Polydactyly, Hiatus hernia, Jejunal atresia, Polyhydr... |
OMIM:619488 |
| Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Open mouth, Inguinal hernia, Hip dysplasia, Postaxial polydactyly, Optic nerve hypoplasia, Broad ... |
ORPHA:457284 |
| Ventriculomegaly With Cystic Kidney Disease |
|
Polyhydramnios, Postaxial polydactyly |
OMIM:219730 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Inguinal hernia, Hallux valgus, Pyloric stenosis, Polydactyly, Widely spaced teeth, Abnormal toe ... |
ORPHA:268261 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Duodenal atresia, Polydactyly, Pyloric stenosis, Toe syndactyly, Oligohydramnios, ... |
ORPHA:464306 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Hip dislocation, Short thumb, Shoulder flexion contracture, Bowed humerus, Single transverse palm... |
OMIM:210710 |
| X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Anal atresia, Abnormality of the dentition, Tooth malposition, Abnormal periodontium morphology, ... |
ORPHA:480880 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Hip dysplasia, Polydactyly, Broad thumb, Narrow palate, Supernumerary tooth, Carious teeth, Abnor... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Hip dysplasia, Polydactyly, Broad thumb, Narrow palate, Supernumerary tooth, Carious teeth, Abnor... |
ORPHA:353277 |
| Orofaciodigital Syndrome Xiv |
|
Anteriorly placed anus, Cleft lip, Preaxial polydactyly, Occipital encephalocele, Cleft palate, H... |
OMIM:615948 |
| Senior-Loken Syndrome 8 |
|
Polydactyly |
OMIM:616307 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Slender long bone, Dental malocclusion, Long philtrum, Hypoplastic pelvis, Wide mouth |
OMIM:612731 |
| Khan-Khan-Katsanis Syndrome |
|
Postaxial polydactyly, Buphthalmos, Tented upper lip vermilion, Triangular mouth, Clinodactyly |
OMIM:618460 |
| Loeys-Dietz Syndrome 2 |
|
Camptodactyly, Inguinal hernia, Bifid uvula, Postaxial polydactyly, Umbilical hernia, Syndactyly,... |
OMIM:610168 |
| 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 |
|
Short femur, Short humerus, Polydactyly, Orofacial cleft |
ORPHA:17 |
| Joubert Syndrome 39 |
|
Joint contracture of the 5th finger, Occipital encephalocele, Postaxial polydactyly |
OMIM:619562 |
| Choanal Atresia |
|
Polydactyly |
ORPHA:137914 |
| Cntnap2-Related Developmental And Epileptic Encephalopathy |
|
Preaxial polydactyly |
ORPHA:163681 |
| Vater/Vacterl Association |
|
Esophageal atresia, Anal atresia, Absent radius, Short thumb, Spina bifida, Preaxial polydactyly,... |
OMIM:192350 |
| Neurocardiofaciodigital Syndrome |
|
High palate, Syndactyly, Thin vermilion border, Polydactyly |
OMIM:619869 |
| Retinitis Pigmentosa 74 |
|
Polydactyly |
OMIM:616562 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Inguinal hernia, Polydactyly, Postaxial polydactyly, Edema, Polyhydramnios, Syndactyly, Esophagea... |
OMIM:619534 |
| Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Polydactyly, Median cleft lip and palate, Septo-optic dysplasia, Optic nerve hypoplasia, Abnormal... |
ORPHA:95494 |
| Legius Syndrome |
|
Diaphyseal dysplasia, Polydactyly, Clinodactyly of the 5th finger |
ORPHA:137605 |
