CHILD syndrome

Other Names: 

CHILD nevus; Congenital hemidysplasia with ichthyosiform nevus and limbs defects

Summary

CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The symptoms normally occur on one side of the body. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. The condition is caused by genetic changes in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females. CHILD syndrome is diagnosed based on the symptoms and through genetic testing.

About CHILD syndrome

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

• Population Estimate:Fewer than 1,000 people in the U.S. have thisdisease.
• Symptoms:May start to appear as a Newborn and as an Infant.
• Cause:This disease has more than one possible cause.
• Organizations:Patient organizations are available to help find a specialist, or advocacy and support for this specific disease.
• Categories:Inherited Metabolic Diseases Birth Defects Cancer Genetic Diseases Skin Diseases

Genetic Mutations

CHILD syndrome is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing. Genetic mutations may also result from contracted viruses, environmental factors, such as UV radiation from sunlight exposure, or a combination of any of these. Learn more about genetic diseases from the National Library of Medicine (NLM).

If you suspect you may have this disease, you may want to start collecting your family health history. Information such as other family members who have had similar symptoms, when their/your symptoms first appeared, or exposures to any potential disease-causing environmental factors should be discussed with your medical team. This tool from the Surgeon General can help you collect your family health history.

X-Linked

X-linked inheritance means the genetic mutation is located on the X chromosome, one of the sex chromosomes. The male sex chromosome pair consists of one X and one Y chromosome (XY). The female sex chromosome pair consists of two X chromosomes (XX). Because males have just one X chromosome, it takes only one copy of the mutated gene to cause the disease. Females that have one copy of the mutated gene may have symptoms similar to those experienced by affected males, but usually have less severe symptoms, or no symptoms at all.

Female parents with one X-linked mutated gene have a 50% chance of passing on the mutation to each of their biological children. Male parents with an X-linked mutated gene will pass on the mutation to all their female children but cannot pass the mutation on to their male children.

Learn more about inheritance patterns from the National Library of Medicine (NLM).

When Do Symptoms of CHILD syndrome Begin?

Symptoms of this disease may start to appear as a Newborn and as an Infant.

The age symptoms may begin to appear differs between diseases. Symptoms may begin in a single age range, or during several age ranges. The symptoms of some diseases may begin at any age. Knowing when symptoms may have appeared can help medical providers find the correct diagnosis.