CHILD syndrome

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.

[1]: 485  The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement.

The type of mutation is not believed to be the underlining reason for clinical variations in the extent of involvement but rather the differences in the pattern of X inactivation.

Although researchers suspect that low levels of cholesterol and/or an accumulation of other substances are responsible for disrupting the growth and development of many body parts, the precise rationale for the laterality of the syndrome has yet to be determined.

A skin sample examined under a microscope would suggest the characteristics of the syndrome and an X-ray of the trunk, arms, and legs would help to detect underdeveloped bones.

[citation needed] Because CHILD syndrome is a congenital disorder, the symptoms may be present at birth or may develop during the first few weeks of life and continue for the lifetime of the patient.