CHILD syndrome

CHILD syndrome
This condition is inherited in an X-linked dominant manner.
SpecialtyMedical genetics Edit this on Wikidata

Congenital hemidysplasia with ichthyosiform erythroderma and limb defects (also known as "CHILD syndrome") is a genetic disorder with onset at birth seen almost exclusively in females.[1]: 485  The disorder is related to CPDX2, and also has skin and skeletal abnormalities, distinguished by a sharp midline demarcation of the ichthyosis with minimal linear or segmental contralateral involvement.[1]: 501 

The acronym was introduced in 1980.[2]

  1. ^ a b Freedberg, et al. (2003). Fitzpatrick's Dermatology in General Medicine. (6th ed.). McGraw-Hill. ISBN 0-07-138076-0.
  2. ^ 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. doi:10.1007/bf00442399. PMID 7408908. S2CID 30798290.