CHILD syndrome is a condition that affects the development of several parts of the body. The name of the condition is an acronym of the major features: congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The signs and symptoms of this disorder may vary from person to person, but they are typically limited to only one side of the body ("hemi-" means "half," and "dysplasia" refers to abnormal growth). The right side of the body is affected more often than the left side.

Variants (also called mutations) in the NSDHL gene cause CHILD syndrome. This gene provides instructions for making an enzyme that is involved in the production of cholesterol. Cholesterol is a type of fat that is produced in the body and obtained from foods that come from animals, particularly egg yolks, meat, and dairy products. Although high cholesterol levels are a well-known risk factor for heart disease, the body needs some cholesterol to develop and function normally both before and after birth. Cholesterol is an important component of cell membranes and the protective substance that covers nerve cells (myelin). Additionally, cholesterol plays a role in the production of certain hormones and digestive acids.

CHILD syndrome is a rare disorder; fewer than 100 people with this condition have been reported in the medical literature. This condition occurs almost exclusively in females.

This condition is inherited in an X-linked dominant pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two copies of the X chromosome), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder, although the signs and symptoms may be mild.

Published Date: July 18, 2024
Published By: National Institutes of Health