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: 15 Jul 2015

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: 15 Jul 2015

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

Effect on mother and child of eculizumab given before caesarean section in a patient with severe antiphospholipid syndrome: A case report.
 

Author(s): Alice Gustavsen, Lillemor Skattum, Grethe Bergseth, Bjorg Lorentzen, Yngvar Floisand, Vidar Bosnes, Tom Eirik Mollnes, Andreas Barratt-Due

Journal: Medicine (Baltimore). 2017 Mar;96(11):e6338.

 

Antiphospholipid syndrome (APS) in pregnancy may trigger the life-threatening catastrophic antiphospholipid syndrome (CAPS). Complement activation is implicated in the pathogenesis, and inhibition of complement factor C5 is suggested as an additional treatment option.

Last Updated: 15 Mar 2017

Go To URL
Growth Hormone (GH) and Rehabilitation Promoted Distal Innervation in a Child Affected by Caudal Regression Syndrome.
 

Author(s): Jesús Devesa, Alba Alonso, Natalia López, José García, Carlos I Puell, Tamara Pablos, Pablo Devesa

Journal:

 

Caudal regression syndrome (CRS) is a malformation occurring during the fetal period and mainly characterized by an incomplete development of the spinal cord (SC), which is often accompanied by other developmental anomalies. We studied a 9-month old child with CRS who presented interruption ...

Last Updated: 26 Jan 2017

Go To URL
A 10-year-old child presenting with syndromic paucity of bile ducts (Alagille syndrome): a case report.
 

Author(s): Girish Kumar Pati, Ayaskanta Singh, Preetam Nath, Jimmy Narayan, Pradeep Kumar Padhi, Prasanta Kumar Parida, Kaumudee Pattnaik, Chittaranjan Panda, Shivaram Prasad Singh

Journal:

 

Alagille syndrome, a rare genetic disorder with autosomal dominant transmission, manifests with five major features: paucity of interlobular bile ducts, characteristic facies, posterior embryotoxon, vertebral defects, and peripheral pulmonary stenosis. Globally, only 500 cases have ...

Last Updated: 1 Dec 2016

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 24 free, full-text review articles on human participants. First 3 results:

Impact of fatty acid oxidation disorders in child neurology: from Reye syndrome to Pandora's box.
 

Author(s): Ingrid Tein

Journal: Dev Med Child Neurol. 2015 Apr;57(4):304-6.

 

Last Updated: 12 Mar 2015

Go To URL
Venous sinus thrombosis in a child with nephrotic syndrome: a case report and literature review.
 

Author(s): Ronaldo Afonso Torres, Bruna Ribeiro Torres, Alessandra Soares Rocha de Castilho, Ronaldo Honorato

Journal: Rev Bras Ter Intensiva. ;26(4):430-4.

 

Nephrotic syndrome is associated with a hypercoagulable state and an increased risk of thromboembolic complications. Cerebral venous sinus thrombosis is a rare complication of nephrotic syndrome, with few cases described in the literature, although the disease may be under-diagnosis. ...

Last Updated: 22 Jan 2015

Go To URL
Obesity hypoventilation syndrome in a 12-year-old child requiring therapeutic phlebotomy: case report and review of the literature.
 

Author(s): G Wesley Branstiter, Nathaniel L Lempert, Talia Sotomayor, Ofelia Crombet, Pamela J Murray, Kamakshya P Patra

Journal: Pediatr Int. 2014 Dec;56(6):e99-101.

 

The childhood obesity epidemic involves unusual and underrecognized complications associated with this clinical and public health problem. Obesity hypoventilation syndrome (OHS) is defined as the triad of obesity, daytime hypoventilation, and sleep-disordered breathing in the absence ...

Last Updated: 19 Dec 2014

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

Treatment of Steroid Dependent Idiopathic Nephrotic Syndrome in Children With Low Doses of Interleukin 2: a Pilot Study
 

Status: Not yet recruiting

Condition Summary: Nephrotic Syndrome Steroid-Dependent; Interleukin 2

 

Last Updated: 15 Dec 2016

Go to URL
Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
 

Status: Recruiting

Condition Summary: Lipoidosis

 

Last Updated: 20 Apr 2017

Go to URL
Irritable Bowel Syndrome in Children: Impact of Hypno-analgesia on the Autonomic Balance
 

Status: Not yet recruiting

Condition Summary: Child; Irritable Bowel Syndrome

 

Last Updated: 12 Jul 2016

Go to URL