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CHILD Syndrome

X-linked dominant disorder characterized by congenital hemidysplasia with ichthyosiform erythroderma and limb defects affecting multiple organ systems.

What Is CHILD Syndrome?

CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome is a rare disorder characterized by birth defects of several organ systems, including the skin, viscera, musculoskeletal system, and central nervous system. CHILD syndrome is inherited in an X-linked dominant fashion and involves a mutation in the NSDHL (NAD[P]H steroid dehydrogenase–like protein) gene.

As more information for our “Patient Perspective” section of CHILD Syndrome becomes available, we will provide updates. Please refer to a Clinician’s Perspective for CHILD Syndrome.

Longterm Course

Depends on severity of internal organ involvement; skin usually remains unchanged through life, but rarely improves

Key Findings

The descriptive name of the disease identifies the key findings. Poor development of many organs is a constant feature and usually occurs on same side of the body as the ichthyosiform erythroderma.

Skin
Distinctively patterned, red patches usually stop at the midline and have greasy scale; half of the body can be involved or segmental patches can be limited primarily to one side
Hair
Alopecia can occur on same side as ichthyosis
Nails
Various nail abnormalities can occur

Associated Findings

Musculoskeletal
Poorly developed bones and muscles in one or more limbs (common)
Internal organs
Poor development of brain, heart, kidneys, and endocrine glands (rare)