Clouston Syndrome

Alternative Names

  • Ectodermal Dysplasia 2, Closuton Type
  • ECTD2
  • Ectodermal Dysplasia, Hidrotic, Autosomal Dominant
  • Closutin Hidrotic Ectodermal Dysplasia
  • Ectodermal Dysplasia, Hidrotic, 2
  • HED2
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

129500

Mode of Inheritance

Autosomal dominant

Gene Map Locus

13q12.11

Description

Clouston Syndrome is a rare autosomal dominant disorder cahracterized by hypotrichosis and nail dystrophy along with palmoplantar keratoderma. 

Mutations in the GJB6 gene have been shown to be causal for this condition.

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
129500.1.1LebanonUnknownYes Hidrotic ectodermal dysplasiaNM_006783.4:c.31G>CHeterozygousAutosomal, DominantFujimoto et al, 2013 Lebanese German fami...
129500.1.2LebanonUnknownYes Hidrotic ectodermal dysplasiaNM_006783.4:c.31G>CHeterozygousAutosomal, DominantFujimoto et al, 2013 Sibling of 129500.1....
129500.1.3LebanonUnknownYes Hidrotic ectodermal dysplasiaNM_006783.4:c.31G>CHeterozygousAutosomal, DominantFujimoto et al, 2013 Sibling of 129500.1....
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