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GTR Home > Conditions/Phenotypes > Trichothiodystrophy 4, nonphotosensitive

Trichothiodystrophy 4, nonphotosensitive

Synonyms
AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; HAIR-BRAIN SYNDROME; Trichothiodystrophy nonphotosensitive; Trichothiodystrophy, nonphotosensitive 1

Summary

Trichothiodystrophy is a rare autosomal recessive disorder in which patients have brittle, sulfur-deficient hair that displays a diagnostic alternating light and dark banding pattern, called 'tiger tail banding,' under polarizing microscopy. TTD patients display a wide variety of clinical features, including cutaneous, neurologic, and growth abnormalities. Common additional clinical features are ichthyosis, intellectual/developmental disabilities, decreased fertility, abnormal characteristics at birth, ocular abnormalities, short stature, and infections. There are both photosensitive and nonphotosensitive forms of the disorder (summary by Faghri et al., 2008). Sabinas brittle hair syndrome (211390) is another form of nonphotosensitive TTD. For a discussion of genetic heterogeneity of trichothiodystrophy, see 601675. [from OMIM]

Available tests

24 tests are in the database for this condition.

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Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: ABHS, C7orf11, ORF20, TTD4, MPLKIP
    Summary: M-phase specific PLK1 interacting protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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