Definitions for trichothiodystrophy

This page provides all possible meanings and translations of the word trichothiodystrophy

Wiktionary

  1. trichothiodystrophy(Noun)

    An autosomal-recessive congenital skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria-like facies, and brittle hair.

Freebase

  1. Trichothiodystrophy

    Trichothiodystrophy, also known as IBIDS syndrome, photosynthetic trichthiodystrophy, trichothiodystrophy with congenital ichthyosis, Tay syndrome or sulfur-deficient brittle hair syndrome, was first described by Tay in 1971. It is an autosomal recessive congenital skin disease characterized by a congenital ichthyosiform erythroderma, growth and mental retardation, progeria-like faces, and brittle hair. The association of ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature has been given the acronym IBIDS syndrome. In some cases, it can be diagnosed prenatally. It is associated with ERCC2 and ERCC3.

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