children | - 14q22q23 microdeletion syndrome 771439009
- 5-amino-4-imidazole carboxamide ribosiduria 725289009
- Aase syndrome 71988008
- Absence deformity of leg and congenital cataract syndrome 716099003
- Absent radius, anogenital anomalies syndrome 771264005
- Absent thumb with short stature and immunodeficiency syndrome 719685004
- Absent tibia, polydactyly, arachnoid cyst syndrome 733068001
- Acropectoral syndrome 720412009
- Acropectorovertebral dysplasia 720457000
- Acrorenal syndrome 720458005
- Acrorenoocular syndrome 720415006
- Adams-Oliver syndrome 34748004
- ADULT (acro-dermato-ungual-lacrimal-tooth) syndrome 720464003
- Angel-shaped phalangoepiphyseal dysplasia 720984008
- Aniridia and absent patella syndrome 720467005
- Antecubital pterygium syndrome 784351000
- Aphalangy and syndactyly with microcephaly syndrome 720498007
- Aphalangy, hemivertebra, urogenital, intestinal dysgenesis syndrome 733118006
- Aphonia, deafness, retinal dystrophy, bifid halluces, intellectual disability syndrome 773583007
- Atrioventricular septal defect, blepharophimosis, radial and anal defect syndrome 763066009
- Ballard syndrome 722298001
- Banki syndrome 733093004
- Brachydactyly and distal symphalangism syndrome 732956000
- Brachydactyly and preaxial hallux varus syndrome 732957009
- Campomelia Cumming type 720599002
- Camptobrachydactyly 733045005
- Camptodactyly and tall stature with scoliosis and hearing loss syndrome 720601000
- Camptodactyly syndrome Guadalajara type 2 720603002
- Camptodactyly taurinuria syndrome 733466005
- Capra DeMarco syndrome 720815000
- Carney complex, trismus, pseudocamptodactyly syndrome 766881008
- Catel Manzke syndrome 722383001
- Caudal appendage deafness syndrome 726621009
- Cenani Lenz syndrome 720633009
- Child syndrome 17608003
- Coloboma of macula with brachydactyly type B syndrome 717785002
- Congenital hypoplasia of ulna and split foot syndrome 733030003
- Congenital microgastria with limb reduction defect syndrome 721880009
- Cono-spondylar dysplasia 766874001
- Cooks syndrome 720747002
- Craniosynostosis fibular aplasia syndrome 732250002
- Craniosynostosis Philadelphia type 720818003
- Cryptomicrotia brachydactyly syndrome 725096002
- Curry Jones syndrome 720819006
- Dandy-Walker malformation with postaxial polydactyly syndrome 733094005
- DK phocomelia syndrome 719021005
- Ectodermal dysplasia syndactyly syndrome 771335004
- Ectodermal dysplasia with ectrodactyly and macular dystrophy syndrome 720856002
- Ectrodactyly polydactyly syndrome 771177009
- Escobar syndrome 80773006
- External auditory canal atresia, vertical talus, hypertelorism syndrome 783774006
- FBLN1-related developmental delay, central nervous system anomaly, syndactyly syndrome 774070008
- Fibular aplasia and complex brachydactyly 715474004
- Fibular aplasia and ectrodactyly syndrome 720952001
- Fibular aplasia, tibial campomelia, oligo-syndactyly syndrome 783156008
- Fibular dimelia diplopodia syndrome 720953006
- Finger hyperphalangy, toe anomalies, severe pectus excavatum syndrome 782758009
- Fuhrmann syndrome 721296004
- Grebe syndrome 77542002
- Guttmacher syndrome 722452004
- Hallux varus, preaxial polysyndactyly syndrome 771180005
- Hand-foot-genital syndrome 702425002
- Hartsfield syndrome 766032007
- Heart defect and limb shortening syndrome 721009008
- Heart defect, tongue hamartoma, polysyndactyly syndrome 783738002
- Heart-hand syndrome Slovenian type 721014007
- Heart-hand syndrome type 2 721010003
- Heart-hand syndrome type 3 721013001
- Hirschsprung disease with deafness and polydactyly syndrome 721221000
- Hirschsprung disease with type D brachydactyly syndrome 721222007
- Holt-Oram syndrome 19092004
- Ichthyosis, short stature, brachydactyly, microspherophakia syndrome 783551005
- Intellectual disability, spasticity, ectrodactyly syndrome 763743003
- Karsch Neugebauer syndrome 722032005
- L1 syndrome 716996008
- Levy-Hollister syndrome 23817003
- Limb body wall complex 716106000
- Limb reduction-ichthyosis syndrome 68551007
- Long thumb brachydactyly syndrome 733454004
- Lower limb malformation hypospadias syndrome 770561007
- Lung agenesis with heart defect and thumb anomaly syndrome 721976003
- Macular coloboma, cleft palate, hallux valgus syndrome 722463001
- Mammary digital nail syndrome 718679004
- Multinodular goiter, cystic kidney, polydactyly syndrome 723409007
- Multiple malformation syndrome with facial-limb defects as major feature 23359005
- Nievergelt's syndrome 33979003
- Oculootoradial syndrome 722019000
- Odontotrichomelic syndrome 239028001
- Oliver syndrome 721017000
- Ophthalmo-acromelic syndrome 703403003
- Osteosarcoma, limb anomalies, erythroid macrocytosis syndrome 733064004
- Persistent Mullerian derivative with lymphangiectasia and polydactyly syndrome 721970009
- PHAVER syndrome 723453002
- Poland anomaly 38371006
- Polydactyly myopia syndrome 733087007
- Polyneuropathy, intellectual disability, acromicria, premature menopause syndrome 770679002
- Polysyndactyly syndrome 81330005
- Popliteal pterygium syndrome 66783006
- Postaxial polydactyly, dental, vertebral anomalies syndrome 773279006
- Preaxial polydactyly, colobomata, intellectual disability syndrome 733088002
- Radial aplasia-thrombocytopenia syndrome 85589009
- Radial deficiency, tibial hypoplasia syndrome 783137003
- Radio-renal syndrome 766765009
- Radioulnar synostosis with microcephaly and scoliosis syndrome 719162001
- RAPADILINO syndrome 702413000
- Rhizomelic dysplasia Patterson Lowry type 715505002
- Severe intellectual disability, epilepsy, anal anomaly, distal phalangeal hypoplasia syndrome 723676007
- Short fifth metacarpal insulin resistance syndrome 721069005
- Split hand, obstructive uropathy, spina bifida, diaphragmatic defect syndrome 732927000
- Split hand, split foot malformation with sensorineural hearing loss syndrome 723611008
- Spondylocamptodactyly syndrome 716231009
- Stapes ankylosis with broad thumb and toe syndrome 719305006
- Symphalangism with multiple anomalies of hands and feet syndrome 732955001
- Syndactyly, camptodactyly and clinodactyly of fifth fingers, bifid toes syndrome 783553008
- Syndactyly, nystagmus syndrome due to 2q31.1 microduplication 783562005
- Syndactyly, polydactyly, ear lobe syndrome 783700001
- Temple Baraitser syndrome 725140007
- Temtamy preaxial brachydactyly syndrome 777998000
- Thoracomelic dysplasia 783003009
- Thumb deformity, alopecia, pigmentation anomaly syndrome 771182002
- Thumb stiffness, brachydactyly, intellectual disability syndrome 733117001
- Tibial hemimelia, polysyndactyly, triphalangeal thumb syndrome 764857004
- Timothy syndrome type 2 719907006
- Triphalangeal thumb and dislocation of patella syndrome 733456002
- Upper limb defect with eye and ear abnormalities syndrome 716110002
- Urban Rogers Meyer syndrome 716334004
- WT limb blood syndrome 719019000
- X-linked lethal multiple pterygium syndrome 763462004
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