An autosomal recessive genetic disorder caused by defective gene(s) affecting the transcription factor IIH components, resulting in a series of symptoms such as ichthyosis, brittle hair, intellectual impairment, decreased fertility, and short stature
BIDS syndrome is a genetic disorder involving one of these genes: ERCC2, ERCC3, and GTF2H5. These genes are associated with transcription factor IIH components. Mutation in one of these genes may lead to BIDS syndrome. It is a genetic disorder inherited in an autosomal recessive pattern. This means the individual with BIDS syndrome has two copies of the defective gene resulting in the manifestation of the disorder. The name, BIDS, is an initial of the series of symptoms: brittle hair, intellectual impairment, decreased fertility, and short stature. Ichthyosis may also manifest. Ichthyosis is a condition characterized by the formation of scales over the affected areas of the skin.
BIDS syndrome is a form of trichothiodystrophy. Trichothiodystrophy is a disorder characterized mainly by having brittle hair with abnormally low sulfur content. There are two major forms of trichothiodystrophy, i.e. one with photosensitivity and the other without photosensitivity. BIDS syndrome is an example of trichothiodystrophy with photosensitivity.
- Amish brittle hair syndrome
- Brittle hair-intellectual impairment-decreased fertility-short stature syndrome