Genetic Disease Of The Skeletal System
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More Specific Terms
- acrocapitofemoral dysplasia
- acrocephalopolysyndactyly
- acromesomelic chondrodysplasia
- arthrogryposis multiplex congenita (distal arthrogryposis)
- atelosteogenesis type II (neonatal osseous dysplasia I)
- autosomal dominant syndactyly; nonsyndromic syndactyly
- brachydactyly
- Caffey's disease
- cleidocranial dysplasia
- cranioosteoarthropathy
- Crouzon syndrome (craniofacial dysostosis type 1, Crouzon craniofacial dysostosis)
- diastrophic dysplasia
- dyssegmental dysplasia
- dyssegmental dysplasia Silverman-Handmaker type (DDSH)
- Eiken syndrome; Eiken skeletal dysplasia; bone modeling defect of hands & feet
- Ellis-van Creveld syndrome (chondroectodermal dysplasia)
- endosteal hyperostosis Worth type; autosomal dominant osteosclerosis (WENHY)
- Greenberg skeletal dysplasia; hydrops-ectopic calcification-moth-eaten skeletal dysplasia
- Grieg cephalopolysyndactyly syndrome
- hereditary multiple exostoses (diaphyseal aclasis, osteochondromatosis)
- hereditary rickets
- hypochondroplasia
- hypophosphatemic nephrolithiasis/osteoporosis type 1
- immunoosseous dysplasia, Schimke type
- inherited disorder of osteolysis; vanishing bone syndrome; osteolysis syndrome
- Jackson-Weiss syndrome
- Jansen-type metaphyseal chondrodysplasia
- juvenile Paget's disease; hyperostosis corticalis deformans juvenilis; hereditary hyperphosphatasia; chronic congenital idiopathic hyperphosphatasia
- Langer mesomelic dysplasia
- Leri-Weill dyschondrosteosis
- multiple epiphyseal dysplasia (EDM)
- multiple hereditary exostosis
- nail-patella syndrome (onychoosteodysplasia)
- osteogenesis imperfecta (OI, fragilitas ossium)
- osteoglophonic dysplasia/dwarfism
- osteoporosis pseudoglioma syndrome; osteogenesis imperfecta ocular form
- otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder)
- parietal foramina 1 (foramina parietalia permagna)
- parietal foramina 2
- parietal foramina with cleidocranial dysplasia; cleidocranial dysplasia with parietal foramina
- platyspondylic lethal skeletal dysplasia (PLSD-SD)
- postaxial acrofacial dysostosis (Miller syndrome)
- primary hypertrophic osteoarthropathy (pachydermoperiostosis)
- progressive pseudorheumatoid arthropathy of childhood
- pseudoachondroplasia
- pycnodysostosis
- Schneckenbecken dysplasia
- sclerosteosis
- short rib-polydactyly syndrome
- Smith-McCort dysplasia
- split hand/split foot malformation
- spondylo-megaepiphyseal-metaphyseal dysplasia
- spondylocostal dysostosis
- spondyloepimetaphyseal dysplasia
- spondyloepiphyseal dysplasia tarda
- thanatophoric dysplasia/dwarfism
- type 4 preaxial polydactyly
- Upington disease
- Weyers acrofacial dysostosis (Curry-Hall syndrome)
- X-linked hypophosphatemia
More General Terms
