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Genetic and Rare Diseases Information Center (GARD)

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CHILD syndrome

Other Names for this Disease
  • Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects
  • Ichthyosis, CHILD syndrome
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Your Question

I was told at birth that I had ichthyosis and that I was supposed to be twin because there was a demarcation in the middle of my body with the skin on the right side scaly. However, I have done some reading and came across CHILD syndrome and am wondering whether there are degrees of this syndrome. I do not think I have any abnormalities of any organs and my limbs are not deformed.  However, I do have some balding on my head on the right side.  Can a person with CHILD Syndrome have normal organs and limbs but have the skin and development issues?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is CHILD syndrome?

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 development of organs such as the brain, heart, lungs, and kidneys may also be affected.[1] Several cases in which milder signs and symptoms have been reported in the medical literature.[2] The condition is caused by mutations 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.[1]
Last updated: 1/28/2010

Can a person with CHILD syndrome have normal organs and limbs but have the skin and developmental issues?

The signs and symptoms of CHILD syndrome can vary significantly from person to person. It is possible for a person with CHILD syndrome to have only some of the characteristic findings of the syndrome. In a 2006 article titled "CHILD Syndrome in 3 Generations", Bittar et al. report on a 14-member family in which four of the five females with mutations in the NSDHL gene only presented with mild or minimal skin findings.  Several theories have been put forth to explain the variability in signs and symptoms observed in CHILD syndrome, including extreme lyonization occurring at random, skewed X-inactivation due to genetic differences, and genotype-phenotype correlation (correlation of certain mutations with particular signs and symptoms).[2]

Last updated: 1/28/2010

Who could I speak to if I feel I may have CHILD syndrome?

You may want to speak with a health care provider such as a genetics professional. Genetics clinics are a source of information for individuals and families regarding genetic diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.

The following online resources can also help you find a genetics professional in your community:

  * GeneTests - A searchable directory of US and international genetics and prenatal diagnosis clinics. Go to the following link and click on 'Clinic Directory' to find a genetic service close to you.

  * ResourceLink - A database of genetics counseling services, searchable by location, name, institution, type of practice, or specialty. Hosted by the National Society of Genetic Counselors.

  * Genetic Centers, Clinics, and Departments - A comprehensive resource list for genetic counseling, including links to genetic centers and clinics, associations, and university genetics departments. Hosted by the University of Kansas Medical Center.

Last updated: 1/28/2010