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.

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

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Trichothiodystrophy Syndromes

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