Beare-Stevenson Cutis Gyrata Syndrome

Alternative Names

  • Beare-Stevenson Syndrome
  • Cutis Gyrata Syndrome of Beare and Stevenson
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number


Mode of Inheritance

Autosomal dominant

Gene Map Locus



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. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
123790.1Saudi ArabiaMaleNo Abnormality of the face; Caudal appendag... NM_000141.5:c.870G>CHeterozygousAutosomal, DominantMaddirevula et al. 2018 De novo mutation
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