Engelsk definition
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.
Svenska synonymer
BIDS-syndrom — PIBIDS-syndrom — Trichotiodystrofisyndrom — Trichotiodystrofi med medfödd iktyos — Fotosensitiv trichotiodystrofi
Engelska synonymer
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