Other terms
Trichothiodystrophy Syndrome,Photosensitive Trichothiodystrophy,Photosensitive Trichothiodystrophies,Trichothiodystrophies, Photosensitive,Trichothiodystrophy, Photosensitive,PIBIDS Syndrome,PIBIDS Syndromes,Trichothiodystrophy, Nonphotosensitive 1,Nonphotosensitive 1 Trichothiodystrophies,Nonphotosensitive 1 Trichothiodystrophy,Trichothiodystrophies, Nonphotosensitive 1,IBIDS Syndrome,Tay Syndrome,Trichothiodystrophy with Congenital Ichtyosis,Ichtyosis, Brittle hair, Intellectual Impairment, Decreased Fertility, and Short Stature
Description
Trichothiodystrophy Syndromes: Autosomal recessive neuroectodermal disorders characterized by brittle sulfur-deficient hair associated with impaired intellect, decreased fertility, and short stature. It may include nail dystrophy, ICHTHYOSIS, and photosensitivity correlated with a nucleotide excision repair defect. All individuals with this disorder have a deficiency of cysteine-rich KERATIN-ASSOCIATED PROTEINS found in the interfilamentous matrix. Photosensitive trichothiodystrophy can be caused by mutation in at least 2 separate genes: ERCC2/XPD and ERCC3/XPB. Nonphotosensitive trichothiodystrophy is caused by mutation in the TTDN1 gene.
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