Variants
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Mutilating keratoderma

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Description

Classic Vohwinkel syndrome is characterized by papular and honeycomb keratoderma associated with constrictions of digits leading to autoamputation, distinctive starfish-like acral keratoses, and moderate degrees of sensorineural deafness (summary by Maestrini et al., 1999)

OMIM

  • Mode of Inheritance

  • Autosomal dominant inheritance

VARIANTS

24

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Genes

External Links

  • OMIM

    124500

  • Orphanet

    494

  • HPO
  • Medgen

    C0265964

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