CHILD syndrome

A rare genetic disorder affecting skin and limb development

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) is a rare genetic disorder characterized by skin abnormalities, limb defects, and organ malformations. It is an X-linked dominant condition, primarily affecting females, and is caused by mutations in the NSDHL gene.

Presentation

CHILD syndrome is typically evident at birth or shortly thereafter. The hallmark features include:

Skin Abnormalities

Individuals with CHILD syndrome often present with ichthyosiform erythroderma, a condition where the skin appears red and scaly. The skin lesions are usually unilateral, affecting one side of the body, and follow the lines of Blaschko.

Limb Defects

Limb abnormalities are common in CHILD syndrome and may include:

• Hypoplasia or absence of fingers or toes
• Shortened limbs
• Asymmetrical limb development

Organ Malformations

In addition to skin and limb defects, individuals may have malformations of internal organs, such as:

• Congenital heart defects
• Renal anomalies
• Hepatic abnormalities

Genetics

CHILD syndrome is caused by mutations in the NSDHL gene, which is located on the X chromosome. This gene is involved in the cholesterol biosynthesis pathway. The disorder is inherited in an X-linked dominant pattern, meaning that one copy of the altered gene in each cell is sufficient to cause the disorder. Males with the mutation typically do not survive to birth, so the condition is predominantly seen in females.

Diagnosis

Diagnosis of CHILD syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the NSDHL gene. Skin biopsy may also be performed to examine the histological features of the skin lesions.

Management

Management of CHILD syndrome is symptomatic and supportive. Treatment may include:

• Topical emollients and keratolytics for skin care
• Surgical intervention for limb defects
• Monitoring and management of organ malformations

Prognosis

The prognosis for individuals with CHILD syndrome varies depending on the severity of the symptoms and the presence of associated organ malformations. With appropriate management, individuals can lead relatively normal lives, although they may require ongoing medical care.

Related pages

• Ichthyosis
• Genetic disorders
• Congenital limb defects