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CHILD Syndrome: A Patient's Perspective: A Clinical Perspective
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.
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|Other Names:||congenital hemidysplasia with ichthyosiform erythroderma and limb defects|
|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.
|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|
- 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. »
- Information about current clinical trials and research studies can be found here.