CHILD Syndrome

Other names: congenital hemidysplasia with ichthyosiform erythroderma and limb defects|

OMIM: 308050

Inheritance: X-linked dominant

Incidence: very rare

Key findings: The descriptive name of the disease identifies the key findings. Poor development of many organs is a constant feature and usually occurs on same side of the body as the ichthyosiform erythroderma.

  • skin: distinctively patterned, red patches usually stop at the midline and have greasy scale; half of the body can be involved or segmental patches can be limited primarily to one side
  • hair: alopecia can occur on same side as ichthyosis
  • nails: various nail abnormalities can occur
Associated findings:
  • musculoskeletal: poorly developed bones and muscles in one or more limbs (common)
  • internal organs: poor development of brain, heart, kidneys, and endocrine glands (rare)
Age at first appearance: birth or within first several weeks of life


Long-term course: depends on severity of internal organ involvement; skin usually remains unchanged through life, but rarely improves


Diagnostic tests: analysis of cellular DNA


Abnormal Gene: either cholesterol isomerase or cholesterol dehydrogenase


Clinicians seeking to confirm a diagnosis should visit FIRST's TeleIchthyosis site to submit a case to experts in ichthyosis.

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other. Or call the FIRST office at 800.545.3286.

This information is provided as a service to patients and parents of patients who have ichthyosis.  It is not intended to supplement appropriate medical care, but instead to complement that care with guidance in practical issues facing patients and parents.  Neither FIRST, its Board of Directors, Medical & Scientific Advisory Board, Board of Medical Editors nor Foundation staff and officials endorse any treatments or products reported here.  All issues pertaining to the care of patients with ichthyosis should be discussed with a dermatologist experienced in the treatment of their skin disorder.

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