IBIDS syndrome

From WikiMD.org
Jump to navigation Jump to search

IBIDS syndrome

IBIDS syndrome (pronounced /ˈaɪbɪdz/), also known as Trichothiodystrophy or Tay syndrome, is a rare, inherited disorder characterized by brittle hair, intellectual impairment, decreased fertility, and short stature. The name "IBIDS" is an acronym for the main features of the condition: Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature.

Etymology

The term "IBIDS" is derived from the initial letters of the main features of the syndrome. The term "Trichothiodystrophy" comes from the Greek words "tricho" (hair), "thio" (sulfur), and "dystrophy" (wasting away), referring to the sulfur-deficient, brittle hair that is a characteristic of the condition.

Symptoms

The symptoms of IBIDS syndrome vary widely among affected individuals, even among members of the same family. The most common symptoms include:

Causes

IBIDS syndrome is caused by mutations in the ERCC2, ERCC3, GTF2H5, MPLKIP, or TTDN1 gene. These genes are involved in repairing damaged DNA, particularly the DNA in cells that are exposed to ultraviolet (UV) rays.

Treatment

There is currently no cure for IBIDS syndrome. Treatment is symptomatic and supportive, and may include special shampoos and conditioners for brittle hair, moisturizers for dry skin, and educational support for intellectual impairment.

See also

External links

Esculaap.svg

This WikiMD article is a stub. You can help make it a full article.


Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski