CHILD

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For other uses, see Child (disambiguation).
CHILD
Classification and external resources
OMIM 308050
DiseasesDB 34609

CHILD syndrome (or congenital hemidysplasia with ichthyosiform erythroderma and limb defects) is a genetic disorder.

The acronym was introduced in 1980.1

It has been associated with NSDHL.2

It is inherited in an X-linked dominant fashion.3

References

  1. ^ Happle R, Koch H, Lenz W (June 1980). "The CHILD syndrome. Congenital hemidysplasia with ichthyosiform erythroderma and limb defects". Eur. J. Pediatr. 134 (1): 27–33. PMID 7408908. 
  2. ^ König A, Happle R, Bornholdt D, Engel H, Grzeschik KH (February 2000). "<339::AID-AJMG15>3.0.CO;2-5 Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome". Am. J. Med. Genet. 90 (4): 339–46. PMID 10710235. http://dx.doi.org/10.1002/(SICI)1096-8628(20000214)90:4<339::AID-AJMG15>3.0.CO;2-5. 
  3. ^ "CHILD syndrome - Genetics Home Reference".
 This disease article is a stub. You can help Wikipedia by expanding it.
v • d • e
Sex linkage: X-linked recessive disorders
Immune
Hematologic
Endocrine
Metabolic
Nervous system
Skin
Neuromuscular
Urologic
No primary system
Note: there are very few X-linked dominant disorders. These include X-linked hypophosphatemia, Focal dermal hypoplasia, Aicardi syndrome, Incontinentia pigmenti, and CHILD.

Wikipedia content modification information:

  • This page was last modified on 17 October 2008, at 21:50.

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