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Beare-Stevenson cutis gyrata syndrome

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Description

Beare-Stevenson cutis gyrata syndrome (BSTVS) is an autosomal dominant condition characterized by the furrowed skin disorder of cutis gyrata, acanthosis nigricans, craniosynostosis, craniofacial dysmorphism, digital anomalies, umbilical and anogenital abnormalities, and early death (summary by Przylepa et al., 1996).

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

100

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Genes

External Links

  • OMIM

    123790

  • Orphanet

    1555

  • HPO
  • Medgen

    C1852406

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