Child Syndrome

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. 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.
The acronym CHILD stands for the symptoms of the syndrome:

  1. • CH = Congenital Hemidysplasia—One side of the body, most of the time the right side, is poorly developed. The right ribs, neck, vertebrae, etc. may be underdeveloped and the internal organs may be affected.
  2. • I – Ichthyosiform Erythroderma—At birth or shortly after birth, there are red, inflamed patches (erythroderma), and flaky scales (ichthyosis) on the side of the body that is affected. Hair loss on the same side may also be possible.
  3. • LD – limb defects—Fingers on the hand or toes on the foot of the affected side may be missing. An arm or leg may also be shortened or even missing.

CHILD syndrome is not fatal unless there are problems with the internal organs. The most common causes of early death in people with the syndrome are cardiovascular malformations. However, central nervous system, skeletal, kidney, lung, and other visceral defects also contribute significantly. The symptoms would appear at birth or shortly after birth. The combination of physical symptoms on the child would suggest they have CHILD syndrome. A skin sample examined under a microscope would suggest the characteristics of the syndrome and an X-Ray of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help detect problems of the internal organs

There is currently no treatment for CHILD syndrome so any treatment would target the symptoms currently present. Emoillents like Lac-Hydran (ammonium lactate) and Ureaphil (urea) are used to treat scaly patches on the skin. A pediatric orthopedic surgeon can evaluate any underdevelopment in the bones and treat them if necessary. There is a compound that is a topical liquid that can calm lesions down on older adults and make them go away on younger children. The mixture was made by Dr. Amy Paller at Children’s Hospital. It is mixed as follows: to make 250 ml: Grind up lovastatin tablets 5g (10-20-40-80 mg); mix with cholesterol NF powder 5g; mix with preserved water while mixing (eventually mixing for 1/2 hour with electronic mortar and pestle) to bring to full volume with preserved water. 8 oz

By – Assistant Professor – Mr. Akbar Nawaz
Department of Nursing
College Of Nursing UCBMSH
Uttaranchal (P.G.) College Of Bio-Medical Sciences & Hospital

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