CHILD Syndrome – Causes, Symptoms & Treatment


CHILD syndrome belongs to the group of hereditary skin diseases known as genodermatoses. It is a very rare condition that affects only one side of the body, usually the right side. In addition to genodermatosis, there are also malformations of limbs and anomalies of internal organs on the same side.

What is CHILD Syndrome?

The acronym CHILD stands for ” Congenital Hemidysplasia with Ichthyosiform Naevi and Limb Defects  , which describes the skin disease as well as the malformations and anomalies of limbs and internal organs in one term. This congenital disease was first described in 1968 by the human geneticist Arthur Falek.

This term was coined in 1980 by the dermatologist Rudolf Happle. It is a congenital disease that is passed on to the child in a dominant X-chromosome manner. Less than 60 cases have been described to date. Due to the dominant X chromosome, male inheritance is associated with fatal malformations.


Since the right side of the body is usually affected by CHILD syndrome, this disease is also known as hemiplegia . The cause is monogenic inheritance through the dominant X chromosome, with one mutation being lethal in male patients.

It is caused by mutations in the NSDHL gene (Xq28). Affected are enzymes involved in cholesterol biosynthesis. This enzyme, which is important for embryonic development, is missing in the cells, resulting in a very broad spectrum of malformations.

Symptoms, Ailments & Signs

The CHILD syndrome is characterized by a unilateral, congenital skin disease that belongs to the group of ichthyosiform erythroderma. The specialist literature describes erythroderma as reddening of the entire skin organ , which in this case only affects the right side of the body.

The skin shows ichthyosiform areas in a spotted form (naevi) with growing, whitish-yellowish scales, which vary in extent and have sharp borders. However, patchy involvement of the left side is possible. The skin symptoms are particularly pronounced in the skin folds, although the face is usually not affected.

The skin is red, scaly, infiltrated and inflamed. Ichthyosis is the collective term for skin affected by cornification disorders that are passed on through a genetic defect . The term comes from the Greek language and means “fish”, which is why ichthyoses are also colloquially referred to as fish scale disease.

The limbs of the affected half of the body have one or more underdeveloped extremities characterized by shortened metacarpals of the fingers and/or toes or missing extremities. During the first few months of life, x-rays show localized calcification (calcification) of the articular cartilage.

Other abnormalities involve the central nervous system, kidneys, heart and lungs. Other possible abnormalities include missing vertebrae, long bones, and ribs. Most of the affected children show normal mental development, but bilateral defects of the central nervous system and the brain can occur ( lissencephaly ).

The cerebellum and spinal cord can also be affected. In individual cases, the absence of individual facial muscles, hearing loss , a congenital bilateral hip deformity and a degenerative disease of the optic nerve have been described. Underdevelopment of the thyroid, adrenal glands, fallopian tubes and ovaries is also possible.

Diagnosis & History

A differential diagnosis must be made with regard to similarly progressing diseases such as the Conradi-Hünermann syndrome , the Schimmelpenning-Feuerstein-Mims syndrome (nevus sebaceous) and the Klippel-Trenaunay syndrome . The CHILD syndrome is an exception in the group of congenital anomalies with exclusively hemilateral development, which is generally not hereditary.

According to doctors, the general non-inheritance of this one-sided training can be explained by the fact that a genetic defect that is passed on over several generations does not only affect one side of the body. However, more than two thirds of the CHILD syndromes documented to date are exclusively affected on the right side. Doctors suspect that a left-sided disease with severe cardiac involvement leads to death before birth.

The severe skin manifestations and the anomalies and malformations of limbs and organs are a diagnostic clue, with X-rays making the malformations of the internal organs visible. An echocardiogram , an ultrasound of internal organs, and a whole-brain MRI are used to detect other abnormalities.


As a result of the CHILD syndrome, the patient suffers from significant malformations and malformations throughout the body. In most cases, the internal organs and limbs are particularly affected. This leads to severe movement restrictions, so that the patient may be dependent on the help of other people in everyday life. The entire skin of the patient is reddened, which can cause severe aesthetic discomfort.

In most cases, these are also linked to depression and other mental illnesses. It is not uncommon for spots to form on the skin. Mental development is usually not affected by CHILD syndrome. However, the various malformations can lead to bullying and teasing, especially in children. These ailments adversely affect the lives of children and can lead to behavioral problems and ailments in adulthood.

Vision and hearing are also often impaired by CHILD syndrome. In the worst case, the patient can go blind or lose their hearing completely. Treatment can only be symptomatic and does not lead to any further complications. Since CHILD syndrome is not fatal, the symptoms can be relieved with surgery.

When should you go to the doctor?

If an accident or fall occurs as a result of malformations and deformities, those affected by CHILD syndrome should go to a hospital. The pediatrician should be consulted if the child complains of increasing pain, itching or other symptoms.

The characteristic redness must be closely monitored by a doctor and treated if necessary. In the event of inflammation or unusually severe scaling, the child should be taken to a general practitioner or dermatologist immediately .

The same applies if the hip misalignment that often occurs causes a bad posture – in this case, an orthopedist must be consulted. In the case of left-sided disease, a doctor must be consulted at the first sign of a cardiac arrhythmia. If depression, inferiority complexes and other mental illnesses occur as a result of the illness, psychological advice is required.

Due to the large number of possible symptoms that CHILD syndrome can cause, affected children should always see a specialist on a regular basis. In the event of serious complications, it is advisable to contact the medical emergency service.

Treatment & Therapy

In women affected, the CHILD syndrome is not always fatal, but it is not curable. Depending on the extent of the malformations and anomalies, there are different long-term prognosis. Heart and lung abnormalities are potentially fatal and require immediate surgical intervention.

Kidney malformations can be treated by removing the affected organ or placing a drain. The affected skin areas can be alleviated by appropriate treatment and care measures. Dermatologists prefer to use urea-based preparations, which are also used to treat neurodermatitis .

In local therapy, topical immunomodulators such as pimecrolimus and tacrolimus have proven effective. The long-term treatment of the diseased skin areas is carried out with emollients, which are the basis of many cosmetic and medicinal ointments. These are lipophilic substances that soften the skin as moisturizers.

Ointments or lotions with Simvastatin or Lovastation in combination with cholesterol have also proven effective. Preparations containing cortisone can also alleviate the side effects of these skin diseases. The parents of the infant play a central role in therapy.

You must guarantee compliance with the care and treatment measures, whereby the instructions of the doctor treating you must be followed. Depending on the extent of the skin diseases and malformations, autologous skin transplants and corrective surgical interventions may be necessary. Orthopedic braces can help with skeletal deformities.

Outlook & Forecast

Since the CHILD syndrome is a complex of genetic malformations, the syndrome cannot be treated causally, with the affected person only having symptomatic treatment available. A complete healing is not achieved.

The further course also depends on the extent of the skin complaints, so that in some cases skin transplants may be necessary to completely alleviate the symptoms. Due to the skeletal problems, those affected also need help in everyday life.

If the CHILD syndrome also leads to malformations of the heart or lungs, these malformations usually lead to the death of the person affected or to a significantly reduced life expectancy. These can only be solved by an immediate intervention after the birth of the patient.

Slight skin problems can also be alleviated with the help of medication and creams, although lifelong therapy is necessary. Because the patient’s intelligence is not negatively affected by CHILD syndrome, intellectual development usually occurs as usual. Malformations in the cerebellum can lead to hearing problems that can usually no longer be treated. The only thing that can help is a hearing aid.


Because it is an X-linked dominant heritable condition, expectant mothers must be screened for the presence of minimal symptoms. Furthermore, an examination for an NSDHL mutation is carried out. A genetic test from chorionic villus biopsies provides information about whether the embryo has a disease.

Certain abnormalities can be identified through routine sonograms. There is a 50 percent chance of transmission from mother to daughter. However, inheritance to liveborn male infants is not possible. Due to this initial situation, prevention in the clinical sense is not possible.


Because of the symptoms of this genetic disease, lifelong treatment and monitoring is necessary for CHILD syndrome. In this respect, it does not seem entirely correct to speak of aftercare. This includes a tendency towards improvement which cannot be given here.

The symptoms that occur near birth due to the CHILD syndrome are usually only developed on one side of the body. However, the opposite side of the body can also be affected by minor damage. The abnormalities in multiple organ systems require constant symptomatic treatment. In the course of life, further changes can occur in addition to the already existing symptoms. These usually affect the spine or other joints. If necessary, the damaged skeleton must be supported.

Due to the rarity of CHILD syndrome, treatment options are limited. In the case of organic anomalies, surgery often has to be carried out at an early age so that the person concerned does not die. Skin transplants are occasionally used. In both cases, special follow-up care is required since the patients are mostly neonates. Otherwise, treatment is symptom-based. Long-term monitoring is necessary when corticosteroids or immunomodulators are administered. This is one of the aftercare measures.

People who follow up CHILD syndrome should also be aware of potential worsening or new symptoms. People affected by CHILD syndrome require lifelong support services.

You can do that yourself

Everyday life poses challenges for patients with CHILD syndrome. Depending on how severe the course of the disease is, different things have to be considered.

Inflammation of the skin must be treated regularly. For this, patients can use ointments or creams that are particularly fatty and contain few fragrances. Applying cream soothes the skin and makes it less sensitive. It is also important to keep your skin warm at all times. Therefore, patients with CHILD syndrome should not wear clothing that is too thin. Otherwise they could cool down quickly.

If there are physical restrictions due to deformities of limbs, everyday life becomes even more difficult for the patients. In many cases, however, the other half of the body is normal. Patients can therefore often carry out light activities without help. Even driving a car is possible if the car is equipped with automatic steering instead of a gearbox.

Other impairments such as walking or hearing, on the other hand, can be compensated for by using walking aids or hearing aids . Patients can learn how to use such aids in their everyday lives in special therapies.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.