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Uncombable hair syndrome 2

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Description

Uncombable hair syndrome is characterized by silvery, blond, or straw-colored scalp hair that is dry, frizzy, and wiry, has a characteristic sheen, stands away from the scalp in multiple directions, and is impossible to comb. This hair shaft disorder occurs in children and improves with age. The hair growth rate can range from slow to normal (summary by U. Basmanav et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of UHS, see UHS1 (191480).

OMIM

  • Mode of Inheritance

  • Autosomal recessive inheritance

VARIANTS

1

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Genes

External Links

  • OMIM

    617251

  • Orphanet
  • HPO
  • Medgen

    C4310649

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