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GTR Home > Conditions/Phenotypes > Autosomal dominant wooly hair

Autosomal dominant wooly hair

Synonyms
Autosomal dominant woolly hair

Summary

Woolly hair (WH) refers to a group of hair shaft disorders that are characterized by fine and tightly curled hair. Compared to normal curly hair that is observed in some populations, WH grows slowly and stops growing after a few inches. Under light microscopy, WH shows some structural anomalies, including trichorrhexis nodosa and tapered ends. WH can appear as part of several syndromes, such as Naxos disease (601214) and cardiofaciocutaneous syndrome (115150) (summary by Petukhova et al., 2009). See 278150 for a discussion of genetic heterogeneity of autosomal recessive woolly hair. [from OMIM]

Available tests

6 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (6 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ADWH, ECTD7, HTSS2, HYPT3, K6IRS4, KRT5C, KRT6IRS4, KRT74
    Summary: keratin 74

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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