Last Reviewed June 9, 2009
Symptoms & Characteristics
Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known as CHILD syndrome, is a genetic condition that affects the development of various parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body - "Hemi-" means "half," and "dysplasia" refers to abnormal growth. The right side is affected about twice as often as the left side.
Affected individuals have a skin condition characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis). This condition is most likely to occur in skin folds and creases and typically does not affect the face. The skin abnormalities are apparent at birth and persist throughout life.
CHILD syndrome also disrupts the formation of the arms and legs during early development. Affected infants may be born with one or more limbs that are shortened or missing. The limb abnormalities occur on the same side of the body as the skin abnormalities.
In addition, CHILD syndrome may affect the development of the brain, heart, lungs, and kidneys.
Treatment
Treatment of CHILD syndrome depends on the specific symptoms.
Early diagnosis, routine surveillance and treatment may help to manage some of the symptoms.
How Common Is It?
About 60 people have been reported to be affected with CHILD syndrome worldwide. It is a rare disorder.
CHILD syndrome occurs almost exclusively in females.
Genetics & Inheritance
CHILD syndrome is caused by mutations in the NSDHL gene.
CHILD syndrome has an X-linked dominant pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.
Most cases of CHILD syndrome occur sporadically. Rarely, the condition can run in families and is passed from mother to daughter. Researchers believe that CHILD syndrome occurs almost exclusively in females because affected males die before birth. Only one male with CHILD syndrome has been reported.
Genetic Testing
Clinical genetic testing for CHILD syndrome may be available
through an in person genetic consultation for people who are considered at risk.
Use our find a genetic professional directory to locate a trained genetic professional
in your area.
Support & More Information
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Alternative Names
- Ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs