CHILD Syndrome

Common Name(s)

CHILD Syndrome

CHILD syndrome, also known as congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic condition that is typically characterized by large patches of skin that are red and inflamed (erythroderma) and covered with flaky scales (ichthyosis) and limb underdevelopment or absence. The development of organs such as the brain, heart, lungs, and kidneys may also be affected. Several cases in which milder signs and symptoms have been reported in the medical literature. The condition is caused by mutations in the NSDHL gene, a gene that provides instructions for the production of an enzyme involved in the making of cholesterol. CHILD syndrome is inherited in an X-linked dominant fashion and is almost exclusively found in females.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CHILD Syndrome" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

http://www.firstskinfoundation.org

Last Updated: 14 Jan 2013

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "CHILD Syndrome" for support, advocacy or research.

Foundation for Ichthyosis and Related Skin Types, Inc.

The Foundation's mission is to educate, inspire, and connect those touched by ichthyosis and related disorders through emotional support, information, advocacy and research funding for better treatments and eventual cures.

http://www.firstskinfoundation.org

Last Updated: 14 Jan 2013

View Details

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "CHILD Syndrome" returned 286 free, full-text research articles on human participants. First 3 results:

[Ceftriaxone-associated biliary pseudolithiasis in a child with nephrotic syndrome].
 

Author(s): Fang-Yuan Zheng, Yan Xing, Shan Lu, Dong-Ming Liu

Journal: Zhongguo Dang Dai Er Ke Za Zhi. 2013 Aug;15(8):696-7.

 

Last Updated: 22 Aug 2013

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The reduced folate carrier (RFC-1) 80A>G polymorphism and maternal risk of having a child with Down syndrome: a meta-analysis.
 

Author(s): Fabio Coppedè, Valentina Lorenzoni, Lucia Migliore

Journal:

 

A common polymorphism (c.80A>G) in the gene coding for the reduced folate carrier (SLC19A1, commonly known as RFC-1) has been associated with maternal risk of the birth of a child with Down Syndrome (DS), but results are controversial. We searched major online databases to identify ...

Last Updated: 16 Jul 2013

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Features of autism in a Singaporean child with Down syndrome.
 

Author(s): Min Sung, Yoon Phaik Ooi, Gloria C Law, Tze Jui Goh, Shih Jen Weng, Bhavani Sriram

Journal: Ann. Acad. Med. Singap.. 2013 May;42(5):251-2.

 

Last Updated: 17 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "CHILD Syndrome" returned 18 free, full-text review articles on human participants. First 3 results:

Pulmonary renal syndrome in a child with coexistence of anti-neutrophil cytoplasmic antibodies and anti-glomerular basement membrane disease: case report and literature review.
 

Author(s): Radovan Bogdanović, Predrag Minić, Jasmina Marković-Lipkovski, Nataša Stajić, Nataša Savić, Milan Rodić

Journal:

 

Pulmonary renal syndrome (PRS), denoting the presence of diffuse alveolar hemorrhage and glomerulonephritis as manifestations of systemic autoimmune disease, is very rare in childhood. The coexistence of circulating anti-neutrophil cytoplasmic antibody (ANCA) and anti-glomerular basement ...

Last Updated: 2 May 2013

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Case scenario: anesthesia-related cardiac arrest in a child with Timothy syndrome.
 

Author(s): Aruna T Nathan, Charles Antzelevitch, Lisa M Montenegro, Victoria L Vetter

Journal: Anesthesiology. 2012 Nov;117(5):1117-26.

 

Last Updated: 26 Oct 2012

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Down-Klinefelter syndrome (48,XXY,+21) in a child with congenital heart disease: case report and literature review.
 

Author(s): Zheng Shen, Chao Chun Zou, Shi Qiang Shang, Ke Wen Jiang

Journal: Intern. Med.. 2012 ;51(11):1371-4.

 

Congenital heart disease (CHD) is extremely rarely reported in 48, XYY, +21 karyotype. Herein, we reported one case of 48,XYY,+21 karyotype with CHD and reviewed the available literature. The phenotypic characteristics of the 4-month-old child showed the presence of features typical ...

Last Updated: 12 Jun 2012

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
 

Status: Recruiting

Condition Summary: Lipoidosis

 

Last Updated: 3 Apr 2014

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ATT Compared With ATE in OSAS Children
 

Status: Recruiting

Condition Summary: Obstructive Sleep Apnea Syndrome in Children

 

Last Updated: 30 Aug 2012

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Prevention of Shaken Baby Syndrome
 

Status: Recruiting

Condition Summary: Child Abuse; Shaken Baby Syndrome

 

Last Updated: 23 Jun 2005

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