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skeletal dysplasia
Abnormal tissue development.
Laboratory:
- see ARUP consult [q]
Related
skeletal deformity
Specific
acrocapitofemoral dysplasia
acrocephalopolysyndactyly
acromesomelic chondrodysplasia
acromicric dysplasia
arthrogryposis multiplex congenita (distal arthrogryposis)
brachydactyly (microdactyly)
camptodactyly tall stature & hearing loss syndrome (CATSHL syndrome)
Camurati-Engelmann disease; progressive diaphyseal dysplasia 1
Czech dysplasia
dyssegmental dysplasia
Eiken syndrome; Eiken skeletal dysplasia; bone modeling defect of hands & feet
endosteal hyperostosis Worth type; autosomal dominant osteosclerosis (WENHY)
Greenberg skeletal dysplasia; hydrops-ectopic calcification-moth-eaten skeletal dysplasia
hereditary multiple exostoses (diaphyseal aclasis)
hip dysplasia
hypochondroplasia
immunoosseous dysplasia, Schimke type
Langer mesomelic dysplasia
Leri-Weill dyschondrosteosis
melorheostosis; Leri disease
metatropic dwarfism type 2 (Kniest dysplasia, Kniest syndrome)
multiple epiphyseal dysplasia (EDM)
multiple hereditary exostosis
omodysplasia
osteoglophonic dysplasia/dwarfism
otopalatodigital syndrome (oto-palato-digital syndrome spectrum disorder)
parietal foramina
platyspondylic lethal skeletal dysplasia (PLSD)
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
spondyloperipheral dysplasia
thanatophoric dysplasia/dwarfism
triphalangeal thumb-polysyndactyly syndrome (TPTPS)
Weissenbacher-Zweymuller syndrome
General
dysplasia
genetic disease of bone/skeletal system
References
- ARUP Consult: Skeletal Dysplasias
The Physician's Guide to Laboratory Test Selection & Interpretation
https://arupconsult.com/content/skeletal-dysplasias
- ARUP consult: Skeletal Dysplasia Panel
https://arupconsult.com/ati/Skeletal-Dysplasia-Panel