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Last seen on: LA Times Crossword 12 May 19, Sunday
Random information on the term “CHILD”:
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.: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.:501
The acronym was introduced in 1980.
The acronym CHILD stands for the symptoms of the syndrome:
CHILD syndrome is inherited in an X-linked dominant fashion and is associated with a mutation of the NSDHL gene. This gene encodes for the enzyme 3beta-hydroxy sterol dehydrogenase which catalyzes a step in the cholesterol biosynthetic pathway. Locations of this enzyme include the membranes of the endoplasmic reticulum and on the surface of intracellular lipid storage droplets. A shortage of the enzyme may allow potentially toxic byproducts of cholesterol production to accumulate in the body’s tissues. Mutations of the gene have been reported in all three types: missense, nonsense, and stop mutations, all resulting in loss of function of NSDHL. The type of mutation is not believed to be the underlining reason for clinical variations in the extent of involvement but rather the differences in the pattern of X inactivation. Although researchers suspect that low levels of cholesterol and/or an accumulation of other substances are responsible for disrupting the growth and development of many body parts, the precise rationale for the laterality of the syndrome has yet to be determined.