IBIDS syndrome
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:
- Ichthyosis: A skin condition that causes dry, scaly skin.
- Brittle hair: The hair is dry, brittle, and breaks easily.
- Intellectual impairment: Varying degrees of intellectual disability are common.
- Decreased fertility: Both men and women may have reduced fertility.
- Short stature: Affected individuals are often shorter than average.
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
- Medical encyclopedia article on IBIDS syndrome
- Wikipedia's article - IBIDS syndrome
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