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.

Last Updated: 14 Jan 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 295 free, full-text research articles on human participants. First 3 results:

Skin grafting for necrotizing fasciitis in a child with nephrotic syndrome.
 

Author(s): Narendra Bagri, Abhijeet Saha, Nandkishore K Dubey, Ashish Rai, Sameek Bhattacharya

Journal: Iran J Kidney Dis. 2013 Nov;7(6):496-8.

 

Necrotizing fasciitis is a rare complication of nephrotic syndrome in children, with a high mortality rate. We report a case with successful outcome with judicious intravenous antibiotics and skin grafting of the bilateral lower thighs.

Last Updated: 18 Nov 2013

Go To URL
Good cognitive performances in a child with Prader-Willi syndrome.
 

Author(s): Rosa Nugnes, Eugenio Zito, Enza Mozzillo, Maria Erminia Camarca, Maria Pia Riccio, Gaetano Terrone, Daniela Melis, Carmela Bravaccio, Adriana Franzese

Journal:

 

We report the case of a child affected by Prader-Willi syndrome (PWS) with good cognitive performances and without relevant behavioral abnormalities.The diagnosis of PWS, suspected on the basis of clinical features and past history, was confirmed by DNA methylation analysis. Additional ...

Last Updated: 17 Jan 2014

Go To URL
[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

Go To URL

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:

Child neurology: Zellweger syndrome.
 

Author(s): Paul R Lee, Gerald V Raymond

Journal: Neurology. 2013 May;80(20):e207-10.

 

Zellweger syndrome (ZS) is a severe manifestation of disease within the spectrum of peroxisome biogenesis disorders that includes neonatal adrenoleukodystrophy, infantile Refsum disease, and rhizomelic chondroplasia punctata. Patients with ZS present in the neonatal period with a ...

Last Updated: 14 May 2013

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

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

Go to URL
ATT Compared With ATE in OSAS Children
 

Status: Recruiting

Condition Summary: Obstructive Sleep Apnea Syndrome in Children

 

Last Updated: 30 Aug 2012

Go to URL
Prevention of Shaken Baby Syndrome
 

Status: Recruiting

Condition Summary: Child Abuse; Shaken Baby Syndrome

 

Last Updated: 23 Jun 2005

Go to URL