Uncombable Hair Syndrome 2; Uhs2

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 (OMIM ).

Clinical Features

Phenotypes and symptoms related to Uncombable Hair Syndrome 2; Uhs2

  • Cataract
  • Alopecia
  • Hyperhidrosis
  • Hypotrichosis
  • Juvenile cataract
  • Pili canaliculi
  • Uncombable hair

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Uncombable Hair Syndrome 2; Uhs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TGM3.

By Fulgent Genetics Fulgent Genetics (United States).

TGM3
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Genetic Syndrome Finder

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