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CHILD Syndrome - Causes, Symptoms, Diagnosis, and Treatment

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CHILD syndrome is a genetic disease (autosomal dominant disease) due to a defect in the cholesterol-forming gene passed down from the father to the daughters.

Medically reviewed by

Dr. Kaushal Bhavsar

Published At January 13, 2023
Reviewed AtMay 18, 2023


CHILD syndrome is the acronym or short form for congenital hemidysplasia with ichthyosiform erythroderma and limb defect syndrome. It is a genetically inherited disorder passed down from the parent to the child; in other words, known as an autosomal dominant disorder. It is an X- linked dominant condition which means the defect is present in the X gene, which the fathers pass down to the daughter. CHILD syndrome is related to any changes or alterations in the NSDHL gene (a gene responsible for the production of cholesterol). Dr. Otto Sachs first described this syndrome in 1903 after his experience in examining an eight-year-old female patient. However, the acronym CHILD syndrome was given in 1980 by Happy et al.

What Is CHILD Syndrome?

CHILD syndrome is a female dominant disorder where the X chromosome is affected. The condition is seen to influence and alter the NAD(P)H steroid, a dehydrogenase-like protein gene also called the NSDHL gene. This gene is present in the long arm of the X chromosome, where it is involved in the body's cholesterol formation. The gene is seen to undergo various alterations or mutations like nonsense mutation and missense mutation, all leading to loss of gene function. Another gene that is said to be involved in CHILD syndrome is the EBP gene (it is a protein-binding gene).

What Is the Occurrence Rate of CHILD Syndrome?

It is a very rare condition, with only 60 cases reported all these years. CHILD syndrome affects 98 percent of female patients with evidence; two cases were also reported as male patients. The characteristics of this condition are seen at the time of birth itself, also becoming more prominent over the lifetime.

What Are the Clinical Symptoms of CHILD Syndrome?

CHILD syndrome is clinically seen at the time of birth as a unilateral epidermal nevus. The other clinical manifestation includes:

  • Unilateral shortening of the limbs.

  • Shortened finger bone growth.

  • Lesser bone growth is seen in the skull, fingers, mandible, and ribs.

  • Unilateral spotting was seen in the pelvis, ribs, and vertebrae.

  • Bending of the spine.

  • 80 to 90 percent of children show lesser bone growth.

  • Unilateral (seen on one side of the body) reddish skin lesions.

  • Inflammatory epidermal nevus.

  • Heart diseases from birth.

  • The right side of the body is generally affected more than the left side.

  • The person's face is usually not affected.

  • Loss of hair with scales on the scalp.

  • One-sided scaly redness on the body.

  • Finger-like lesions in the tongue.

  • One-sided defects in the limbs can be either shortening or absence of limbs.

  • Multiple organ failure is seen in which heart failure or dysfunction is the most common cause of death.

What Is the Cause of CHILD Syndrome?

Because of the defect in the enzyme responsible for the formation of cholesterol, there becomes a stagnation of metabolic products involved in cholesterol formation. Cholesterol is very important for constructing cell membranes and the sheet covering the nerve fibers. Most changes occurring in the body and the cells are due to a defect in the cholesterol pathway.

What Are Cellular Changes Seen in CHILD Syndrome?

The cellular changes seen due to defects in cholesterol formation pathways are:

  • Skin lesions.

  • Thickening of the skin due to increased keratin and parakeratin (proteins which help in cell maturation). This is seen in almost 30 to 79 percent of the cases.

  • Skin with finger-like bumpy projections.

  • Cell markers show the presence of macrophages (agents which engulf dead cells).

  • Increased fat cells are seen within the cell when viewed under the microscope.

How Are Child Syndromes Diagnosed?

CHILD syndrome can be assessed by running the following tests, which confirm the presence of the syndrome and see its level of progression; the tests done are:

1. Laboratory Tests: Blood tests are done testing plasma to test the levels of cholesterol, and tissue and cell culture tests are made to learn the elevated levels of enzymes.

2. Radiographic Tests:

  • X-Rays: X-rays are taken to study the head, trunk, and limb. Radiography show wear and tear of the bony membrane up to 80 to 90 percent.

  • Computed Tomography (CT): CT scan is taken to analyze the level of growth of the brain and spinal cord to check for no development or negligible growth of the organs.

The other tests taken are:

  • Ultrasound - To check the growth and function of all the organs.

  • Echocardiography - To monitor the heart rate.

  • Magnetic Resonance Imaging (MRI) - To test the growth and development of brain tissue.

  • Skin Biopsy - Skin biopsies are the method of testing the skin lesion for any cellular changes.

How Is CHILD Syndrome Treated?

CHILD syndrome is mainly seen as skin lesions topically and is treated with 2 % Retinol creams. Severe skin lesions are treated with surgical excision of the skin.

  • Non-Surgical Management: The defects in the bone due to child syndrome are managed non-surgically using braces (braces are elastic bandages that hold the fractured segment in place and splints with strengthening exercises).

  • Surgical Management: In cases showing visible deformity of the limbs, corrective surgeries are performed.

However, managing other organs involving the heart, brain, and kidney can be fatal and requires immediate intensive medical care.

What Are the Other Similar Conditions?

X-linked dominant conditions are genetic disorders that mainly affect the X chromosome.

  • Sebaceous Nevus Syndrome - It is a rare multi-organ disorder showing reddish-black skin lesions throughout the body.

  • Epidermal Nevus Syndrome - It is a noncancerous growth seen on the outermost layer of skin.


CHILD Syndrome is a hereditary condition that is complicated to cure but can be monitored and kept at bay. The symptoms are checked at periodic intervals, and bony complications are treated with surgical or non-surgical management. In cases showing organ symptoms, intensive medical treatment is given to prevent significant complications. CHILD syndrome, with proper medical and surgical care, definitely improves the patient's life quality. Congenital or genetic defects cannot be treated but only managed. And the original cause can be fixed by altering the gene using genetic engineering methods.

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Dr. Kaushal Bhavsar
Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)


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