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

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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: 15 Jul 2015

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

Recurrence of nephrotic syndrome following kidney transplantation in a child with congenital nephrotic syndrome.
 

Author(s): Ali Derakhshan, Dorna Derakhshan, Mohammad Hossein Fallahzadeh, Mitra Basiratnia

Journal: Saudi J Kidney Dis Transpl. 2016 Jan;27(1):150-2.

 

Recurrence of original disease is a common threat in the field of transplantation. Recurrence of nephrotic syndrome is not common in children with congenital nephrotic syndrome (CNS). We report a case of a female child with CNS who presented with nephrotic state at first month of ...

Last Updated: 20 Jan 2016

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Acute kidney injury in a child: A case of Munchausen syndrome by proxy.
 

Author(s): Mukta Mantan, Dhulika Dhingra, Aditi Gupta, Gulshan Rai Sethi

Journal: Saudi J Kidney Dis Transpl. 2015 Nov;26(6):1279-81.

 

Renal and urologic problems in pediatric condition falsification (PCF) or Munchausen by proxy (MSP) can result in serious diagnostic dilemma. Symptoms of hematuria, pyuria and recurrent urinary tract infections have occasionally been described. However, MSP presenting as azotemia ...

Last Updated: 20 Nov 2015

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Meningitis and intracranial bleed in a child with steroid-resistant nephrotic syndrome.
 

Author(s): Kanika Kapoor, Abhijeet Saha, Dhwanee Thakkar, N K Dubey, Kavita Vani

Journal: Saudi J Kidney Dis Transpl. 2015 Nov;26(6):1270-3.

 

Meningitis and associated intracranial bleeding have been rarely reported in patients with steroid-resistant nephrotic syndrome. We present such a case with raised intracranial tension in a 13-year-old child and discuss the management issues. Prompt recognition and appropriate treatment ...

Last Updated: 20 Nov 2015

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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 23 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

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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

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Posterior reversible encephalopathy syndrome in a child with steroid-resistant nephrotic syndrome: a case report and review of literature.
 

Author(s): Yu Zhang, Jianhua Zhou, Yu Chen

Journal:

 

Posterior reversible encephalopathy syndrome (PRES) is a rare and serious syndrome of central nervous system that can develop in both adults and children. It is characterized by acute onset of headache, confusion, seizures or focal neurological deficits along with radiological findings ...

Last Updated: 14 Aug 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Metabolic Modifications in Children With Noonan Syndrome
 

Status: Recruiting

Condition Summary: Child Syndrome

 

Last Updated: 9 Mar 2016

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Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
 

Status: Recruiting

Condition Summary: Lipoidosis

 

Last Updated: 12 Feb 2016

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PLAY GAME: Post-concussion Syndrome in Youth - Assessing the GABAergic Effects of Melatonin
 

Status: Recruiting

Condition Summary: Post-concussion Syndrome; Post-concussive Symptoms; Traumatic Brain Injury; Concussion; Children

 

Last Updated: 1 Dec 2014

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