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

 

Learn more about FIRST's Regional Support Network -  connecting affected individuals and families with each other.

 


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