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 PROTEIN gene and the related ERCC3. Nonphotosensitive trichothiodystrophy can be caused by mutation in the TTDN1 gene.

Synonyms: Trichothiodystrophies, Photosensitive BIDS Syndromes Trichothiodystrophies, Nonphotosensitive 1 Amish Brittle Hair Brain Syndrome Ichthyosiform Erythroderma with Hair Abnormality and Mental and Growth Retardation Hair Brain Syndrome Trichothiodystrophy Syndromes Trichothiodystrophy Photosensitive Trichothiodystrophies IBIDS Syndromes Hair-Brain Syndromes Trichothiodystrophy Syndrome Tay Syndrome Brittle Hair-Intellectual Impairment-Decreased Fertility-Short Stature Syndrome PIBIDS Syndromes Amish Brittle Hair Syndrome BIDS Syndrome Brittle Hair Intellectual Impairment Decreased Fertility Short Stature Syndrome PIBIDS Syndrome Hair-Brain Syndrome Trichothiodystrophy with Congenital Ichtyosis Trichothiodystrophies Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature Photosensitive Trichothiodystrophy Trichothiodystrophy, Photosensitive IBIDS Syndrome Trichothiodystrophy, Nonphotosensitive 1