skeletal dysplasia

Introduction

Abnormal tissue development.

Laboratory

• see ARUP consult [q]

More general terms

• dysplasia
• genetic disease of bone/skeletal system

More specific terms

• 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

Additional terms

• skeletal deformity