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Brachydactyly Type E2
BDE2

Presentation

Short metacarpals and symphalangism are occasionally present. The feet are either normal or show ordinary brachydactyly. [ojrd.biomedcentral.com]

Entire Body System

  • Short Stature

    Brachydactyly type E occurs with short stature and severe hypertension as an autosomal dominant syndrome (OMIM: 112410). [ojrd.biomedcentral.com]

Musculoskeletal

  • Small Hand

    ABSTRACT BACKGROUND: Autosomal-dominant brachydactyly type E is a congenital abnormality characterized by small hands and feet, which is a consequence of shortened metacarpals and metatarsals. [pesquisa.bvsalud.org]

Epidemiology

Epidemiology A very rare digital malformation. No epidemiologic studies available. Reported pedigrees are summarized in OMIM [4]. [ojrd.biomedcentral.com]

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