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.
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.
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| Associated Findings: |
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| 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:
- 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 Support Services - 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.
