Uncombable Hair Syndrome 1; Uhs1

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). Genetic Heterogeneity of Uncombable Hair SyndromeSee UHS2 (OMIM ), caused by mutation in the TGM3 gene (OMIM ) on chromosome 20p12, and UHS3 (OMIM ), caused by mutation in the TCHH gene (OMIM ) on chromosome 1q21.

Clinical Features

Top most frequent phenotypes and symptoms related to Uncombable Hair Syndrome 1; Uhs1

  • Pain
  • Depressivity
  • Abnormality of the hair
  • Hypertrichosis
  • Coarse hair
  • Albinism
  • Curly hair
  • Woolly hair
  • Fragile nails
  • White hair
And another 5 symptoms. If you need more information about this disease we can help you.
Click here to know more about Mendelian.

Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Uncombable Hair Syndrome 1; Uhs1 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
TGM3.

By Fulgent Genetics Fulgent Genetics in United States.

TGM3
Specificity
100 %
Genes
50 %
PADI3.

By Fulgent Genetics Fulgent Genetics in United States.

PADI3
Specificity
100 %
Genes
50 %

Alternate names

Uncombable Hair Syndrome 1; Uhs1 Is also known as uncombable hair syndrome;uhs, pili trianguli et canaliculi;pili trianguli et canaliculi.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like SIFRIM-HITZ-WEISS SYNDROME; SIHIWES

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more