CHILD syndrome

CHILD syndrome, also known as Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects (CS), is a rare genetic condition. It is inherited in an X-linked dominant pattern and mainly affects one side of the body. People with this condition have unusual skin lesions that are red, inflamed, and scaly on one side, along with other anomalies affecting the limbs and internal organs on the same side. The condition is known for its distinctive pattern of unilateral skin and physical changes. The consistent combination of skin lesions with limb and other anomalies helps in recognizing this syndrome, although the specifics of clinical presentation can vary among affected individuals.

Common symptoms of CHILD syndrome include red, inflamed, and scaly skin lesions that typically appear on one side of the body. Along with these skin changes, affected individuals may have limb anomalies and other visceral malformations on the same side as the skin lesions.

CHILD syndrome is caused by genetic changes. It is linked to mutations in the NSDHL gene. The condition follows an X-linked dominant inheritance pattern, meaning that a change on the X-chromosome can lead to the development of the characteristic skin lesions and limb abnormalities.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.