Symptoms
The acronym CHILD identifies the symptoms of the syndrome:- CH - congenital hemidysplasia - One side of the body, usually the right side, is poorly developed. The right-side ribs, neck, shoulder or vertebrae may be underdeveloped, and internal organs, such as the lung, heart, thyroid gland, brain or reproductive tract, may be affected.
- I - ichthyosiform erythroderma – At birth or shortly after, there are scaly red patches on the skin of the affected side of the body. There may also be hair loss on that same side.
- LD - limb defects - The fingers of the right hand or toes of the right foot may be shortened, or the arm or leg itself may be short or even missing.
Diagnosis
When an infant is born with CHILD syndrome, the symptoms are usually apparent at birth or shortly after. The combination of physical symptoms the infant has will suggest CHILD syndrome. A skin sample (biopsy) examined under a microscope will show changes characteristic of the syndrome. An X-ray of the trunk, arms and legs will help detect any poorly developed bone. Computed tomography (CT) scan of the head and trunk will reveal any problems with internal organs.Treatment
There is no cure for CHILD syndrome, so treatment focuses on the symptoms present. Emollients, such as Lac-Hydrin (ammonium lactate) or Ureaphil (urea), are used to treat the scaly skin patches. The skin usually remains unchanged through life, but some individuals may see improvement over time. A pediatric orthopedic surgeon will evaluate bone deformities and treat, if necessary. CHILD syndrome is not a serious disorder unless problems with internal organs, such as heart defects, are present.Sources:
CHILD Syndrome. Foundation for Ichthyosis and Related Skin Types (F.I.R.S.T.).
"Ichthyosis, CHILD Syndrome." Index of Rare Diseases. National Organization for Rare Disorders.
