" /> Ulnar-mammary syndrome - CISMeF





Preferred Label : Ulnar-mammary syndrome;

Symbol : UMS;

CISMeF acronym : UMS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Schinzel syndrome; Pallister ulnar-mammary syndrome;

Description : The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the T-Box 3 gene (TBX3, 601621.0001);

Prefixed ID : #181450;

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30/04/2025


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