" /> Spondyloepimetaphyseal dysplasia, strudwick type - CISMeF





Preferred Label : Spondyloepimetaphyseal dysplasia, strudwick type;

Symbol : SEMDSTWK;

CISMeF acronym : SEMDC; SEMDSTWK; SMD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Smed, strudwick type; Semd, strudwick type; Spondylometaepiphyseal dysplasia congenita, strudwick type; Strudwick syndrome; Dappled metaphysis syndrome; Spondylometaphyseal dysplasia; Smed, type I; SMD; SEMDC;

Description : The Strudwick type of spondyloepimetaphyseal dysplasia (SEMD) is characterized by disproportionate short stature, pectus carinatum, and scoliosis, as well as dappled metaphyses (summary by Tiller et al., 1995).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the collagen II, alpha-1 polypeptide gene (COL2A1, 120140.0017);

Prefixed ID : #184250;

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03/05/2025


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