| children | - 3-M syndrome 702342007
- Achondrogenesis 2391001
- Acromesomelic dysplasia syndrome 279082008
- Angel-shaped phalangoepiphyseal dysplasia 720984008
- Ballard syndrome 722298001
- Baller-Gerold syndrome 77608001
- Beals auriculo-osteodysplasia syndrome 50123005
- Bent bone dysplasia group 278832007
- Brachyrachia (short spine dysplasia) 254087001 removed: 2021-07-31
- Camptodactyly syndrome Guadalajara type 2 720603002
- Cherubism with gingival fibromatosis 389273002
- Chondrodysplasia 205465004
- Chondrodysplasia punctata 278715001
- Chondrodysplasia punctata congenita 360507004 removed: 2023-11-01
- Chondroectodermal dysplasia 62501005
- Cloverleaf skull, asphyxiating thoracic dysplasia syndrome 783181006
- Congenital dysplasia of bone caused by drug 897590006
- Congenital glenoid dysplasia 2111000119106
- Congenital hip dysplasia 52781008
- Coxoauricular syndrome 732248005
- Craniofacial conodysplasia syndrome 720754008
- Craniofrontonasal dysplasia 715421009
- Craniolenticulosutural dysplasia 725100001
- Cutis laxa, x-linked 59399004
- Deafness, genital anomaly, metacarpal and metatarsal synostosis syndrome 721086004
- Defects of the tubular (and flat) bones and/or axial skeleton 254043005
- Defects of tubular bones and spine 718395009
- Developmental dislocation of ankle and/or foot 443905007
- Developmental dislocation of joint of shoulder region 444462006
- Diastrophic dysplasia 58561002
- Disorganized development of cartilaginous and fibrous components of the skeleton 254140006
- DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001
- Dysostosis 109420003
- Dysostosis multiplex group 279081001
- Dysplasia with decreased bone density 254104009
- Dysplasia with defective mineralization 254117007
- Dysplasia with increased bone density 254120004
- Dysplasias with significant membranous bone involvement 254094003
- Ehlers-Danlos syndrome 398114001
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epiphyseal dysplasia 254080004
- Familial articular hypermobility syndrome 71322004
- Familial osteodysplasia Anderson type 773278003
- Fountain syndrome 720957007
- Frank-Ter Haar syndrome 720958002
- Greig cephalopolysyndactyly syndrome 32985001
- Hajdu-Cheney syndrome 63122002
- Hallermann Streiff like syndrome 1197057002
- Heart defect and limb shortening syndrome 721009008
- Heide syndrome 716189005
- Hypochondroplasia 205468002
- Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome 770755007
- Kniest dysplasia 53974002
- Kniest-Stickler dysplasia 254059005
- Kniest-Stickler dysplasia group 278712003 removed: 2021-01-31
- Kosaki overgrowth syndrome 1172898008
- Leri's pleonosteosis syndrome 41656005
- Lethal Kniest-like syndrome 93132001
- Lethal occipital encephalocele, skeletal dysplasia syndrome 773672007
- Liebenberg syndrome 764437006
- Lipodystrophy, intellectual disability, deafness syndrome 721973006
- Madelung's deformity 4530000
- Marshall-Smith syndrome 73284007
- Mesomelic dysplasia 205473008
- Metaphyseal chondrodysplasia 28681006
- Metaphyseal dysplasia, maxillary hypoplasia, brachydactyly syndrome 724145007
- Metatropic dysplasia 22764001
- Microspherophakia with metaphyseal dysplasia syndrome 724140002
- Miller syndrome 66038001
- Multiple dislocations with dysplasia 254098000
- Multiple synostosis syndrome 62628008
- NEK9-related lethal skeletal dysplasia 1179299005
- Occipital dysplasia 19441002
- Osteochondrodysplasia with osteopetrosis 50108000
- Osteochondrodysplatic nanism, deafness, retinitis pigmentosa syndrome 722108000
- Osteocraniostenosis 722109008
- Osteodysplasia 205490002 removed: 2019-07-31
- Osteodysplastic primordial dwarfism 254101001
- Osteofibrous dysplasia 1234828008
- Osteogenesis imperfecta 78314001
- Osteoplastic dysplasia 389191003
- Osteosclerosis - Stanescu type 254124008
- Osteosclerotic metaphyseal dysplasia 1237513008
- Otopalatodigital syndrome spectrum disorder 784010006
- Overgrowth, metaphyseal undermodeling, spondylar dysplasia syndrome 1169363004
- Parietal foramina with clavicular hypoplasia 771338002
- Patella dysplasia 389276005
- Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 702347001
- Proteus syndrome 23150001
- Pyknoachondrogenesis 719258003
- Rhizomelic dysplasia 1263463009
- RHYNS syndrome 723999009
- Saldino-Mainzer dysplasia 254092004
- Scholte syndrome 722002002
- Seckel syndrome 57917004
- Short rib dysplasia 254050009
- Short rib dysplasia group (with or without polydactyly) 278710006 removed: 2021-01-31
- Short stature, advanced bone age, early-onset osteoarthritis syndrome 1197586007
- Short stature, auditory canal atresia, mandibular hypoplasia, skeletal anomalies syndrome 774155009
- Short stature, onychodysplasia, facial dysmorphism, hypotrichosis syndrome 773625007
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Short-limb skeletal dysplasia with severe combined immunodeficiency 789777007
- SHOX-related short stature 763868006
- Skeletal dysplasia brachydactyly syndrome 733095006
- Skeletal dysplasia with epilepsy and short stature syndrome 715428003
- Spondylodysplastic group 278708009
- Spondyloepiphyseal dysplasia congenita 278713008
- Spondyloepiphyseal dysplasia congenita 367530008 removed: 2015-01-31
- Spondylometaphyseal dysplasia 784006008
- Spondyloperipheral dysplasia 702339001
- Sterile multifocal osteomyelitis with periostitis and pustulosis 773702002
- Stickler syndrome 78675000
- Symphalangism-brachydactyly syndrome 129580008 removed: 2017-07-31
- Tarsal-carpal coalition syndrome 702312009
- Thin ribs, tubular bones, dysmorphism syndrome 783004003
- Weill-Marchesani syndrome 2884008
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