Variants
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Skin fragility-woolly hair-palmoplantar keratoderma syndrome

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Description

Skin fragility-woolly hair-palmoplantar keratoderma syndrome is a rare, genetic, ectodermal dysplasia syndrome characterized by persistent skin fragility which manifests with blistering and erosions due to minimal trauma, woolly hair with variable alopecia, hyperkeratotic nail dysplasia, diffuse or focal palmoplantar keratoderma with painful fissuring, and no cardiac abnormalities. Perioral hyperkeratosis may also be associated.

ORDO

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

209

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Genes

External Links

  • OMIM

    607655

  • Orphanet

    293165

  • HPO
  • Medgen

    C1843292

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