Adams-Oliver syndrome is a rare congenital condition in infants that causes changes in the limbs and scalp. It can also lead to neurological disorders and eye problems.
This condition 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 parents should know to improve the quality of life for people with Adams-Oliver syndrome.
Causes of Adams-Oliver Syndrome
The existence ofgenetic mutation is one of the triggers for this problem. Generally, several genetic mutations trigger this syndrome, such as ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, and RBPJ. However, approximately 50 percent of people with this syndrome are also detected without genetic mutations.
Most individuals with Adams-Oliver syndrome have an autosomal dominant inheritance pattern, with mutations in the ARHGAP31, DLL4, NOTCH1, and RBPJ genes. The ARHGAP31, DLL4, and NOTCH1 genes have shown incomplete penetrance. This causes individuals with Adams-Oliver syndrome who carry mutations in these genes to be asymptomatic.
The malfunctioning gene may be inherited from one parent, or the result of a harmful genetic change in the person with the syndrome that is not inherited from the family.
Parents with this syndrome have a 50 percent risk of passing on the disease to their child with each pregnancy. This risk is the same even if the father has the syndrome.
Meanwhile, people with Adams-Oliver syndrome, which involves the DOCK6 gene, will follow an autosomal recessive pattern. Recessive genetic disorders occur when someone inherits a malfunctioning gene from their parents. Typically, people with 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 rate is the same whether the father or mother has Adams-Oliver syndrome.
Risk Factors for Adams-Oliver Syndrome
Until now, no factors have been found that can trigger someone to experience Adams-Oliver syndrome.
Symptoms of Adams-Oliver Syndrome
Sufferers will experience symptoms after birth. Furthermore, symptoms vary from person to person, depending on the type of genetic mutation. However, some of the most common symptoms are:
1. Disorders of the skin
People with this syndrome generally experience skin problems around the head. Furthermore, skin disorders can also occur on other parts of the body. These disorders can range from mild to severe. In mild cases, the missing skin area 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
Up to 20 percent of sufferers experience enlarged blood vessels, making them quite visible on the skin. Dilated blood vessels become more fragile, making them susceptible to bleeding.
3. Changes in the fingers
Babies born with Adams-Oliver syndrome usually experience physical abnormalities in their fingers, particularly their fingers and toes. People with this syndrome may haveAndhandor very short legs.
In severe cases, people with the syndrome may lose several fingers or toes, or even completely lose their fingers and toes.
4. Changes in the mouth
Sufferers are also at risk of having holes in the lips and palate.
Diagnosis Sindrom Adams-Oliver
This syndrome can be detected through a physical examination after the baby is born. If the baby experiences associated 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 bones.
- Echocardiography is also needed to determine how much this disease affects 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 with scalp grafting, a surgical procedure.
Additionally, those with missing fingers or toes will receive physical therapy to maintain an optimal quality of life. This condition can also be treated with surgery or the use of artificial limbs.
If this disease has affected the heart quite severely, sufferers need to receive appropriate heart care and treatment according to their needs.
Complications of Adams-Oliver Syndrome
There are various complications that can occur, such as:
1. Heart problems
Approximately 23 percent of people with Adams-Oliver syndrome have structural heart problems. This causes incomplete or incomplete development of the left side of the heart (hypoplastic left ventricle) or a hole in the heart (septal defect).
This condition can certainly disrupt blood flow to the heart. Furthermore, sufferers are also at risk of developing high blood pressure in the pulmonary arteries (pulmonary hypertension).
2. Brain development disorders
Approximately 35 percent of people with Adams-Oliver syndrome experience brain developmental problems. This condition causes a smaller head (microcephaly), a protruding brain (encephalocele), and structural brain problems that increase the risk of seizures and even epilepsy.
Brain development disorders in sufferers are also directly related to problems with intellectual development and growth.
3. Eye disorders
Less than 10 percent of people with this condition experience eye problems. These include decreased vision, cataracts, eye misalignment (esotropia), and optic nerve degeneration (optic atrophy).
Adams-Oliver Syndrome Prevention
There's no preventative measure for this condition. However, if you and your partner have a medical history or family history of Adams-Oliver syndrome, it's a good idea to have a medical checkup before deciding to become pregnant.
People with this syndrome also need to undergo regular health checks to determine the development of the disease and the necessary treatment.