Adams-Oliver Syndrome

Adams-Oliver Syndrome

Understanding Adams-Oliver Syndrome

Adams-Oliver syndrome is a rare congenital condition in babies that causes changes to the limbs and scalp. Apart from that, this condition can also trigger neurological disorders and eye problems.

This disease is also known by other names, such as limb scalp and skull defects, aplasia cutis congenita , and congenital scalp defects . The following are the causes and treatments that parents need to know to improve the quality of life of people with Adams-Oliver syndrome .

Causes of Adams-Oliver Syndrome

The presence of genetic mutations is one of the triggers for this problem. Generally, there are several types of genetic changes that trigger this syndrome, such as ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, and RBPJ. However, around 50 percent of people with this syndrome are also diagnosed as not having genetic mutations.

Most sufferers follow an autosomal dominant inheritance pattern through mutations in the ARHGAP31, DLL4, NOTCH1 and RBPJ genes. The ARHGAP31, DLL4, and NOTCH1 genes have shown incomplete penetrance. This causes people with Adams-Oliver syndrome who carry this gene mutation to show no symptoms.

Malfunctioning genes can be inherited from one of the parents, or result from dangerous genetic changes in people with this syndrome that are not inherited from the family.

Parents who suffer from this syndrome risk losing their child by 50 percent for each pregnancy. This risk will be the same even if the father has this syndrome.

Meanwhile, people with Adams-Oliver syndrome which involves the DOCK6 gene will follow an autosomal recessive pattern. A recessive genetic disorder occurs when a person inherits a non-functioning gene from their parents. Usually, people with syndromes involving DOCK6 will not show any symptoms.

Parents who carry a non-functioning gene have a 25 percent risk of passing it on to their children. This number is also the same for both fathers and mothers who suffer from Adams-Oliver syndrome .

Risk Factors for Adams-Oliver Syndrome

Until now, nothing has been found that can trigger someone to experience Adams-Oliver syndrome .

Symptoms of Adams-Oliver Syndrome

Sufferers will experience symptoms after birth. Apart from that, the symptoms will also be different for each sufferer. This is adjusted to the type of genetic mutation that occurs. However, there are some of the most common symptoms that often occur, namely:

1. Disorders of the skin

Generally, people with this syndrome will experience poor skin health around the head area. Apart from that, skin disorders can also occur on other parts of the body. This disorder can occur in mild to severe conditions. In mild cases, the missing skin area will heal on its own within a few months after birth.

However, for severe symptoms, care and treatment are usually needed to prevent bleeding, infection, high pressure on the skull, and cerebrospinal fluid leaks.

2. Enlarged blood vessels

As many as 20 percent of sufferers experience enlarged blood vessels. This makes the blood vessels visible quite clearly on the skin. Blood vessels that experience dilation will become more fragile, making them susceptible to bleeding.

3. Changes in the fingers

Babies born with Adams-Oliver syndrome will usually experience physical disorders of the fingers, especially the fingers and toes. People with this syndrome can have very short fingers or toes.

In people with the syndrome who are quite severe, they can lose several fingers or toes. In fact, fingers and toes can also disappear completely.

4. Changes in the mouth

Sufferers are also at risk of having holes in the lips and roof of the mouth.

Diagnosis Adams-Oliver Syndrome

This syndrome can be identified through a physical examination after the baby is born. If the baby experiences related symptoms, further examination can be carried out to determine the cause.

There are several checks that can be done, such as:

Perform an examination via ultrasound and computerized tomography (CT) scan to confirm the condition of the baby’s skull bones.
Echocardiography is also needed to find out how much this disease affects heart health.

Magnetic resonance angiography (MR angiography) and venography to show vascular anatomy in the body.

Treatment of Adams-Oliver Syndrome

Treatment and care will be adjusted to the specific symptoms experienced by the sufferer. Scalp disorders that do not improve within the first few months of life can be treated by scalp grafting using a surgical procedure.

Apart from that, sufferers who lose their fingers or toes will receive treatment in the form of physical therapy, so that the sufferer’s quality of life remains optimal. This condition can also be treated by performing surgery or using an artificial limb.

If this disease has affected the heart seriously enough, the sufferer needs to receive heart care and treatment that suits their needs.

Complications of Adams-Oliver Syndrome
There are various complications that can occur, such as:

1. Heart problems

About 23 percent of people with Adams-Oliver syndrome have structural heart problems. This causes incomplete or incomplete heart development on the left side of the heart (hypoplastic left ventricle) or a hole in the heart (septal defect).

This condition can certainly cause disruption of blood flow to the heart. Apart from that, sufferers will also be at risk of experiencing high blood pressure in the pulmonary arteries (pulmonary hypertension).

2. Disorders of brain development

About 35 percent of people with Adams-Oliver syndrome experience brain development problems. This condition causes a smaller head size (microcephaly), a protruding brain (encephalocele), and structural brain problems that risk increasing seizures to epilepsy.

Disorders of brain development in sufferers are also directly related to problems with intellectual development and growth and development.

3. Eye disorders

Less than 10 percent of sufferers experience eye problems. This includes decreased quality of vision, cataracts, misalignment of the eyes (esotropia), and deterioration of the optic nerve (optic atrophy).

Prevention of Adams-Oliver Syndrome

There is no prevention that can be done for this disease. However, if you and your partner have a medical history or family history of Adams-Oliver syndrome , there is no harm in having a medical examination before deciding to undergo pregnancy.

People with this syndrome also need to have regular health checks to ensure the progress of the disease and the treatment that needs to be obtained.

When Should You See a Doctor?

You can visit a doctor at any time for a thorough health examination. If your doctor recommends taking vitamin supplements, immediately check your supplement needs and consult a nutritionist using Halodoc . How to download the Halodoc application via the App Store or Google Play now!

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