Adams-Oliver Syndrome
Adams-Oliver syndrome is a rare congenital condition in babies that causes changes in the limbs and scalp. It 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. Here are the causes and treatments that parents need to know to improve the quality of life of Adams-Oliver syndrome sufferers.
Symptoms of Adams-Oliver Syndrome
The sufferer will experience symptoms after birth. In addition, 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, sufferers of this syndrome will experience skin health around the head area. In addition, skin disorders can also occur in other parts of the body. This disorder can occur in mild to severe conditions. In mild cases, the area of skin that is not there will heal on its own within a few months after birth.
However, for severe symptoms, treatment and medication are usually needed to prevent bleeding, infection, high pressure on the skull, and cerebrospinal fluid leakage.
2. Enlargement of blood vessels
As many as 20 percent of sufferers experience enlarged blood vessels. This makes the blood vessels quite visible on the skin. Blood vessels that experience dilation will become more fragile and therefore prone to bleeding.
3. Changes in the fingers
Babies born with Adams-Oliver syndrome usually have physical abnormalities in their fingers, especially their fingers and toes. People with this syndrome may have very short fingers or toes.
In severe cases, people with the syndrome may lose some fingers or toes, or even completely lose their fingers and toes.
4. Changes in the mouth area
Sufferers are also at risk of having holes in the lips and roof of the mouth.
Causes of Adams-Oliver Syndrome
The presence of genetic mutations is one of the triggers for this problem. Generally, there are several types of genetics that experience changes that trigger this syndrome, such as ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, to RBPJ. However, around 50 percent of sufferers of this syndrome are also detected as not experiencing 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 mutations in these genes to be asymptomatic.
The malfunctioning gene may be inherited from one parent, or it may be the result of a harmful genetic change in a person with the syndrome that is not inherited from the family.
Parents with this syndrome have a 50 percent risk of passing on the child to their child for each pregnancy. This risk is the same even if the father has this syndrome.
Meanwhile, people with Adams-Oliver syndrome involving the DOCK6 gene will follow an autosomal recessive pattern. Recessive genetic disorders occur when someone inherits a non-functioning gene from their parents. Usually, people with a syndrome involving DOCK6 will not show any symptoms.
Parents who carry the defective gene have a 25 percent risk of passing the disease on to their children. This number is also the same for both fathers and mothers who have Adams-Oliver syndrome .
Risk Factors for Adams-Oliver Syndrome
Until now, no things have been found that can trigger someone to experience Adams-Oliver syndrome.
Diagnosis of Adams-Oliver Syndrome
This syndrome can be detected through a physical examination after the baby is born. If the baby experiences related symptoms, further tests can be performed to determine the cause.
There are several examinations that can be done, such as:
- Conducting an examination using ultrasound and computerized tomography (CT) scan to determine the condition of the baby’s skull.
- Echocardiography is also needed to determine how much the disease is affecting heart health.
- Magnetic resonance angiography (MR angiography) and venography to show the vascular anatomy in the body.
Adams-Oliver Syndrome Treatment
Treatment and care will be tailored 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 performing scalp grafting through a surgical procedure.
In addition, 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 overcome by performing surgery or using artificial limbs.
If this disease has affected the heart quite severely, sufferers need to receive care and treatment for the heart that suits their needs.
Complications of Adams-Oliver Syndrome
There are various complications that can occur, such as:
1. Heart disorders
About 23 percent of people with Adams-Oliver syndrome have structural heart problems. This causes incomplete or imperfect development of 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. In addition, sufferers will also be at risk of experiencing high blood pressure in the pulmonary arteries (pulmonary hypertension).
2. Brain development disorders
Approximately 35 percent of people with Adams-Oliver syndrome have problems with brain development. This condition causes a smaller head size (microcephaly), a protruding brain (encephalocele), and structural brain problems that increase the risk of seizures and epilepsy.
Disorders of brain development in sufferers are also directly related to problems with intellectual development and growth.
3. Eye disorders
Less than 10 percent of people with the condition experience eye problems. These include decreased vision, cataracts, eye misalignment (esotropia), and optic nerve degeneration (optic atrophy).
Prevention of Adams-Oliver Syndrome
There is no prevention for this disease. However, if you and your partner have a medical history or family history of Adams-Oliver syndrome, it doesn’t hurt to have a medical check-up before deciding to have a pregnancy.
People with this syndrome also need to have regular health checks to ensure the development of the disease and the treatment they need.