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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Learn moreSources and references
You can check the following sources for additional information.
OMIM Genetic Syndrome FinderIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN HISTIDINEMIA NANCE-HORAN SYNDROME; NHS PSEUDOXANTHOMATOUS DIFFUSE CUTANEOUS MASTOCYTOSIS HYPERPHENYLALANINEMIA, BH4-DEFICIENT, C; HPABH4C NEUROBLASTOMA