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What is CHILD Syndrome?

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system.  CHILD syndrome is inherited in an X-linked dominant fashion and involves a mutation in the NSDHL (NAD[P]H steroid dehydrogenase–like protein) gene.

As more information for our “Patient Perspective” section of CHILD Syndrome becomes available, we will provide updates. Please refer to a Clinician’s Perspective for CHILD Syndrome.

Ref. http://emedicine.medscape.com/article/1110427-overview

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Other Names: congenital hemidysplasia with ichthyosiform erythroderma and limb defects
OMIM:
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
Longterm 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

Additional Resources:


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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