CHILD syndrome (Congenital Hemidysplasia)

CHILD syndrome (Congenital Hemidysplasia)

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.

  • 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.
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

Can This Disease Be Passed Down From Parent to Child?

Yes. It is possible for a biological parent to pass down genetic mutations that cause or increase the chances of getting this disease to their child. This is known as inheritance. Knowing whether other family members have previously had this disease, also known as family health history, can be very important information for your medical team. This tool from the Surgeon General can help you collect your family health history.


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