CHILD syndrome, whose full name is congenital hemidysplasia with ichthyosiform erythroderma and limb defects, is a genetic disorder present from birth and seen almost exclusively in females. The name is an acronym, introduced in 1980. The disorder is related to the gene CPDX2 as named in the source lead, and it involves both skin and skeletal abnormalities. Its distinguishing feature is a sharp midline demarcation of the ichthyosis, the scaly reddened skin change, which lies on one side of the body with minimal linear or segmental involvement of the opposite side. The lead does not describe treatment, prevalence or the mechanism of inheritance, so those are left for later work rather than guessed. This entry concerns the syndrome only and is unrelated to any general entry about children.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 1 Communicable or Non-communicable Causative Agent
Causative Agent (category) First Described Sources
1. CHILD syndrome (Wikipedia)
Lead
is a genetic disorder with onset at birth
Lead [body-system]
also has skin and skeletal abnormalities
lead sentence 1
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.
Article text
The earliest recorded case of CHILD syndrome was in 1903.
View the SourceReader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.