Beare-Stevenson Cutis Gyrata Syndrome

Alternative Names

  • BSTVS
  • Beare-Stevenson Syndrome
  • Cutis Gyrata Syndrome of Beare and Stevenson
Back to search Result
WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

123790

Mode of Inheritance

Autosomal dominant

Gene Map Locus

10q26.13

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. [From OMIM]

Epidemiology in the Arab World

View Map
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
© CAGS 2021. All rights reserved.