CHILD Syndrome

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Tang, P. CHILD Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/6033 (accessed on 20 September 2026).

Tang P. CHILD Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/6033. Accessed September 20, 2026.

Tang, Peter. "CHILD Syndrome" Encyclopedia, https://encyclopedia.pub/entry/6033 (accessed September 20, 2026).

Tang, P. (2021, January 04). CHILD Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/6033

Tang, Peter. "CHILD Syndrome." Encyclopedia. Web. 04 January, 2021.

CHILD Syndrome

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/congenital-hemidysplasia-with-ichthyosiform-erythroderma-and-limb-defects

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects, more commonly known by the acronym CHILD syndrome, is a condition that affects the development of several parts of the body. The signs and symptoms of this disorder are typically limited to either the right side or the left side of the body. ("Hemi-" means "half," and "dysplasia" refers to abnormal growth.) The right side is affected about twice as often as the left side.

genetic conditions

References

Bittar M, Happle R, Grzeschik KH, Leveleki L, Hertl M, Bornholdt D, König A.CHILD syndrome in 3 generations: the importance of mild or minimal skin lesions. Arch Dermatol. 2006 Mar;142(3):348-51.
Herman GE. Disorders of cholesterol biosynthesis: prototypic metabolicmalformation syndromes. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R75-88. Review.
Hummel M, Cunningham D, Mullett CJ, Kelley RI, Herman GE. Left-sided CHILDsyndrome caused by a nonsense mutation in the NSDHL gene. Am J Med Genet A. 2003 Oct 15;122A(3):246-51.
Kaminska-Winciorek G, Brzezinska-Wcisło L, Jezela-Stanek A, Krajewska-Walasek M, Cunningham D, Herman GE. CHILD syndrome: clinical picture and diagnosticprocedures. J Eur Acad Dermatol Venereol. 2007 May;21(5):715-6.
Kim CA, Konig A, Bertola DR, Albano LM, Gattás GJ, Bornholdt D, Leveleki L,Happle R, Grzeschik KH. CHILD syndrome caused by a deletion of exons 6-8 of theNSDHL gene. Dermatology. 2005;211(2):155-8.
König A, Happle R, Bornholdt D, Engel H, Grzeschik KH. Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome. Am JMed Genet. 2000 Feb 14;90(4):339-46. Review.
König A, Happle R, Fink-Puches R, Soyer HP, Bornholdt D, Engel H, GrzeschikKH. A novel missense mutation of NSDHL in an unusual case of CHILD syndromeshowing bilateral, almost symmetric involvement. J Am Acad Dermatol. 2002Apr;46(4):594-6.
Porter FD. Human malformation syndromes due to inborn errors of cholesterolsynthesis. Curr Opin Pediatr. 2003 Dec;15(6):607-13. Review.

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Subjects: Genetics & Heredity

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Update Date: 04 Jan 2021

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