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

Ichthyosis

Ichthyosis is a heterogeneous family of at least 28, generalized, mostly genetic skin disorders. All types of ichthyosis have dry, thickened, scaly or flaky skin...

 with minimal linear or segmental contralateral involvement.

The acronym was introduced in 1980.

It has been associated with NSDHL

NSDHL

Sterol-4-alpha-carboxylate 3-dehydrogenase, decarboxylating is an enzyme that in humans is encoded by the NSDHL gene.It has been associated with CHILD.-Further reading:...

.

It is inherited in an X-linked dominant

X-linked dominant

X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome. As an inheritance pattern, it is less common than the X-linked recessive type...

 fashion.

Symptoms

The acronym CHILD stands for the symptoms of the syndrome:

• 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.
• I - Ichthyosiform Erythroderma—At birth or shortly after birth, there are red patches on the side of the body that is affected. Hair loss on the same side may also be possible.
• 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.

Diagnosis

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

X-ray

X-radiation is a form of electromagnetic radiation. X-rays have a wavelength in the range of 0.01 to 10 nanometers, corresponding to frequencies in the range 30 petahertz to 30 exahertz and energies in the range 120 eV to 120 keV. They are shorter in wavelength than UV rays and longer than gamma...

 of the trunk, arms, and legs would help to detect underdeveloped bones. A CT scan would help detect problems of the internal organs.

Treatment

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

Urea

Urea or carbamide is an organic compound with the chemical formula CO2. The molecule has two —NH2 groups joined by a carbonyl functional group....

) 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. CHILD syndrome is not fatal unless there are problems with the internal organs.