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

Thoracolumbar spinal neurenteric cyst with tethered cord syndrome and extreme cervical lordosis in a child: A case report and literature review.
 

Author(s): Zhi Gang Lan, Seidu A Richard, Chuanfen Lei, Siqing Huang

Journal: Medicine (Baltimore). 2018 Apr;97(16):e0489.

 

Neurenteric cysts, are rare benign tumors of the central nervous system that are mostly located in the spinal cord and predominantly seen in male children although adult form of the disorder also occurs. The etiology and treatment of this disorder is still a matter of debate. Our ...

Last Updated: 31 Dec 1969

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Short stature and hypothyroidism in a child with Nail-Patella Syndrome. A case report.
 

Author(s): C Goecke, C Mellado, C García, H García

Journal: Rev Chil Pediatr. 2018 Feb;89(1):107-112.

 

Nail-Patella syndrome (NPS) (OMIM: 161200) or hereditary onycho-osteodysplasia is an autosomal dominant disorder characterized by skeletal anomalies, nail dysplasia, renal and ocular abnor malities. The diagnosis is based on clinical and radiological findings and confirmed by the ...

Last Updated: 31 Dec 1969

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Staphylococcal scalded skin syndrome in a 4-year-old child: a case report.
 

Author(s): P J Haasnoot, A De Vries

Journal:

 

Staphylococcal scalded skin syndrome is an exfoliating skin disease which primarily affects children. Differential diagnosis includes toxic epidermal necrolysis, staphylococcal scalded skin syndrome, epidermolysis bullosa, and Stevens-Johnson syndrome. Staphylococcal scalded skin ...

Last Updated: 31 Dec 1969

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

Juvenile Moyamoya and Craniosynostosis in a Child with Deletion 1p32p31: Expanding the Clinical Spectrum of 1p32p31 Deletion Syndrome and a Review of the Literature.
 

Author(s): Paolo Prontera, Daniela Rogaia, Amedea Mencarelli, Valentina Ottaviani, Ester Sallicandro, Giorgio Guercini, Susanna Esposito, Anna Bersano, Giuseppe Merla, Gabriela Stangoni

Journal:

 

Moyamoya angiopathy (MA) is a rare cerebrovascular disorder characterised by the progressive occlusion of the internal carotid artery. Its aetiology is uncertain, but a genetic background seems likely, given the high MA familial rate. To investigate the aetiology of craniosynostosis ...

Last Updated: 31 Dec 1969

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Opioid Use in Pregnancy, Neonatal Abstinence Syndrome, and Childhood Outcomes: Executive Summary of a Joint Workshop by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, American College of Obstetricians and Gynecologists, American Academy of Pediatrics, Society for Maternal-Fetal Medicine, Centers for Disease Control and Prevention, and the March of Dimes Foundation.
 

Author(s): Uma M Reddy, Jonathan M Davis, Zhaoxia Ren, Michael F Greene,

Journal: Obstet Gynecol. 2017 07;130(1):10-28.

 

In April 2016, the Eunice Kennedy Shriver National Institute of Child Health and Human Development invited experts to a workshop to address numerous knowledge gaps and to review the evidence for the screening and management of opioid use in pregnancy and neonatal abstinence syndrome. ...

Last Updated: 31 Dec 1969

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[Down Syndrome child in the Intensive care unit].
 

Author(s): Alejandro Donoso F, Soledad Montes F, Megan Neumann B, Daniela Ulloa V, Dina Contreras E, Daniela Arriagada S

Journal: Rev Chil Pediatr. 2017 ;88(5):668-676.

 

Down syndrome is the most common chromosomal abnormality in newborns, with a high incidence in Chile. This condition presents unique physiological aspects that should be known, which can affect the child during their stay in an Intensive Care Unit, beyond the neonatal period This ...

Last Updated: 31 Dec 1969

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Symptoms, Diagnosis, and Treatment

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Reliability and Validity of a Computerized Tool to Assess Proprioception and Motor Planning Among Children With Coordination Disorders
 

Status: Recruiting

Condition Summary: Developmental Coordination Disorder; Developmental Dyspraxia; Clumsy Child Syndrome

 

Last Updated: 20 Dec 2017

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Last Updated: 3 Jul 2018

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Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
 

Status: Recruiting

Condition Summary: Lipoidosis

 

Last Updated: 8 Aug 2018

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