" /> Weismann-netter syndrome - CISMeF





Preferred Label : Weismann-netter syndrome;

Symbol : WNS;

CISMeF acronym : WNS;

Type : Phenotype or locus, molecular basis unknown;

Alternative titles and symbols : Toxopachyosteose diaphysaire tibio-peroniere; Bowing of legs, anterior, with dwarfism;

Description : The diagnostic hallmarks of Weismann-Netter syndrome (WNS) are anterior bowing of the diaphyses of the tibia and fibula, broadening or 'tibialization' of the fibula, posterior cortical thickening of both bones, and short stature. The diaphyses of other long bones may be similarly affected, but usually to a milder degree. Some WNS patients have also displayed mental retardation (summary by Peippo et al., 2009).;

Inheritance : Autosomal dominant;

Prefixed ID : %112350;

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03/05/2025


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