Vohwinkel Syndrome, Variant Form

Alternative Names

  • Vohwinkel Syndrome with Ichthyosis
  • Mutilating Keratoderma with Ichthyosis
  • Loricrin Keratoderma

Associated Genes

Loricrin
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

604117

Mode of Inheritance

Autosomal dominant

Gene Map Locus

1q21.3

Description

Vohwinkel Syndrome is a rare congenital disorder characterised by palmoplantar keratoderma and starfish keratoses on the fingers, toes or knees. Affected individuals may also suffer from pseudoainhum of fingers or toes, often resulting in auto-amputation.   

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
604117.1.1IraqFemaleNoNo Honeycomb palmoplantar hyperkeratosis ;...NM_000427.2:c.648_649delGAHeterozygousAutosomal, DominantKhalil et al, 2017
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