IBIDS syndrome

IBIDS syndrome is a rare genetic disorder characterized by a group of symptoms that include Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature. It is also known as Trichothiodystrophy or Tay's syndrome.

Overview

IBIDS syndrome is a form of ectodermal dysplasia, a group of conditions affecting the skin, hair, nails, and other ectodermal structures. It is a subtype of trichothiodystrophy, which refers to a group of diseases characterized by brittle hair and intellectual impairment. The term "IBIDS" is an acronym for the main features of the syndrome: Ichthyosis, Brittle hair, Intellectual impairment, Decreased fertility, and Short stature.

Symptoms

The symptoms of IBIDS syndrome can vary greatly among affected individuals. The most common symptoms include:

• Ichthyosis: This is a condition characterized by dry, scaly skin. In individuals with IBIDS syndrome, the ichthyosis is usually present at birth and can range from mild to severe.
• Brittle hair: The hair of individuals with IBIDS syndrome is often brittle and breaks easily. This can lead to hair loss or thinning hair.
• Intellectual impairment: Many individuals with IBIDS syndrome have some degree of intellectual impairment, which can range from mild learning disabilities to severe intellectual disability.
• Decreased fertility: Some individuals with IBIDS syndrome may have decreased fertility. This can be due to a variety of factors, including hormonal imbalances or structural abnormalities of the reproductive system.
• Short stature: Individuals with IBIDS syndrome are often shorter than average for their age and gender.

Causes

IBIDS syndrome is caused by mutations in the ERCC2 or ERCC3 genes. These genes are involved in the process of DNA repair, and mutations in these genes can lead to the symptoms of IBIDS syndrome.

Diagnosis

The diagnosis of IBIDS syndrome is usually based on the presence of the characteristic symptoms. Genetic testing can confirm the diagnosis by identifying mutations in the ERCC2 or ERCC3 genes.

Treatment

There is currently no cure for IBIDS syndrome, and treatment is focused on managing the symptoms. This can include the use of moisturizers for ichthyosis, special hair care products for brittle hair, and educational support for intellectual impairment.

See also

• Ectodermal dysplasia
• Trichothiodystrophy
• Ichthyosis
• Brittle hair
• Intellectual impairment
• Decreased fertility
• Short stature

NIH genetic and rare disease info

• NIH info on IBIDS syndrome

IBIDS syndrome is a rare disease.

IBIDS syndrome Resources
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