" /> Osteofibrous dysplasia, susceptibility to - CISMeF





Preferred Label : Osteofibrous dysplasia, susceptibility to;

Symbol : OSFD;

CISMeF acronym : OFD; OSFD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Tibia, bowing of, with pseudarthrosis and pectus excavatum; OFD;

Description : Osteofibrous dysplasia is a tumor-like bone lesion that usually presents as a painless swelling or anterior bowing of the tibia (Park et al., 1993), although pain may occur in up to 25% of cases and presentation may follow pathologic fracture. Most reports of osteofibrous dysplasia describe isolated tibial lesions, although a significant subgroup describe isolated and ipsilateral fibular involvement. Cases with ulnar and radial involvement have been reported (summary by Hunter and Jarvis, 2002).;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility is conferred by mutation in the MET protooncogene gene (MET, 164860.0013);

Prefixed ID : #607278;

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27/07/2025


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