" /> Gnathodiaphyseal dysplasia - CISMeF





Preferred Label : Gnathodiaphyseal dysplasia;

Symbol : GDD;

CISMeF acronym : GDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Osteogenesis imperfecta with unusual skeletal lesions; Gnathodiaphyseal sclerosis;

Description : Gnathodiaphyseal dysplasia (GDD) is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones (summary by Marconi et al., 2013).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the anoctamin 5 gene gene (ANO5, 608662.0001);

Prefixed ID : #166260;

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29/07/2025


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