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.

Descriptor ID	D054463
MeSH Number(s)	C16.131.077.899 C16.131.831.874 C16.320.850.895 C17.800.804.874 C17.800.827.895
Concept/Terms	Trichothiodystrophy Syndromes Trichothiodystrophy Syndromes Trichothiodystrophy Syndrome Photosensitive Trichothiodystrophy Photosensitive Trichothiodystrophy Photosensitive Trichothiodystrophies Trichothiodystrophies, Photosensitive Trichothiodystrophy, Photosensitive PIBIDS Syndrome PIBIDS Syndromes Trichothiodystrophy, Nonphotosensitive 1 Trichothiodystrophy, Nonphotosensitive 1 Nonphotosensitive 1 Trichothiodystrophies Nonphotosensitive 1 Trichothiodystrophy Trichothiodystrophies, Nonphotosensitive 1 IBIDS Syndrome IBIDS Syndrome Trichothiodystrophy with Congenital Ichtyosis Tay Syndrome Ichthyosiform Erythroderma With Hair Abnormality And Mental And Growth Retardation Ichthyosis, Brittle Hair, Intellectual Impairment, Decreased Fertility, and Short Stature

Below are MeSH descriptors whose meaning is more general than "Trichothiodystrophy Syndromes".

Below are MeSH descriptors whose meaning is related to "Trichothiodystrophy Syndromes".

Below are MeSH descriptors whose meaning is more specific than "Trichothiodystrophy Syndromes".