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

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

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