Congenital hemidysplasia with ichthyosiform erythroderma, or CHILD syndrome, is an unusual genetic disorder. Patients with this condition experience underdevelopment on one side of the body, usually the right, and may have medical complications if the internal organs are involved. Girls are most likely to develop CHILD syndrome because of the pattern of genetic inheritance involved. The rarity of the condition makes it of minimal concern during pregnancy unless there is a family history to consider.
Those with this disorder have errors in the genes responsible for coding an enzyme involved in cholesterol production. They have unusually low cholesterol and also experience buildups of products that the body should normally flush away, which appear to stunt growth in fetal development and after birth. Typically the signs of CHILD syndrome are readily detectable at a very young age.
One half of the body may be smaller than the other, with reddish, irritated patches of skin, particularly along the folds like at the elbows. One or more limbs can also be abnormal; the patient may be missing fingers and toes or whole limbs, for example. Sometimes the underdevelopment includes the internal organs on that side, which can lead to heart, lung, and kidney problems. Some tests can confirm a diagnosis of CHILD syndrome if a doctor wants to be absolutely sure about the patient's condition.
The exact mechanism involved in the development of CHILD syndrome is not fully understood. It is an X-linked trait, associated with the X chromosomes carried by women, which is why it appears more commonly in girls. Patients with this condition have a demonstrable problem with genes involved in cholesterol production, but the precise reason why the low cholesterol and buildup of byproducts causes underdevelopment is not known. Research includes attempts to understand precisely how it happens, and to develop better treatment options for patients.
As of 2011, no cure existed for this condition. Treatment for CHILD syndrome focuses on managing the symptoms and keeping the patient comfortable. This may include surgery, prosthetics for comfort, and physical therapy. Some patients require mobility aids and assistance with some tasks of daily living. The skin may also require treatment to address the irritated patches and limit pain and tenderness.
Some patients find it helpful to join support groups to connect with other people who have similar conditions. The rarity of CHILD syndrome can make it hard to meet up with fellow patients, but other genetic conditions can cause similar issues with the skin and skeleton. People living with these conditions may have tips and advice for patients and parents with concerns.
