Apert syndrome: symptoms, causes, treatment etc. & bull; hello healthy

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Definition

What is Apert syndrome?

Apert syndrome or Apert syndrome is an inherited disorder or defect from birth that is genetically inherited.

Apert syndrome or Apert syndrome is a congenital disorder when the skull bones of a newborn close too quickly.

This condition of closing the skull bones too quickly is known as craniosynostosis. The skull of a baby with Apert syndrome grows imperfectly or abnormally, which affects the shape of the head and face.

When the bones in a baby's skull close too quickly while the brain is growing, the baby's head and face are automatically deformed.

As a result, babies with this congenital abnormality condition usually experience visual disturbances and problems with tooth growth.

Not only that, the baby's skull will also experience pressure due to the premature bone closure process (craniosynostosis).

Most babies with Apert syndrome usually also experience clinging fingers or toes.

The condition of the attachment of the fingers or toes is known as the syndactyly which makes the baby's fingers and toes appear to have membranes.

How common is this condition?

Apert syndrome or Apert syndrome is a congenital disorder that can be easily observed when a newborn is born.

According to the U.S National Library of Medicine, Apert syndrome can occur in about 1 in 65,000-88,000 newborns.

Although parents at any age are at risk of having a child with Apert syndrome, the risk can increase in older fathers.

Signs & symptoms

What are the signs and symptoms of Apert syndrome?

The symptoms of Apert syndrome or Apert syndrome in babies are as follows:

• A cone-shaped skull known as turribrachycephaly
• The head size is small or narrows at the front and widens back
• Both sides of the head are wide
• The face looks like it goes in the middle
• Eyes wide and protruding outward
• The upper jaw is poorly developed, so the teeth appear to be solid and piled up

Symptoms of Apert syndrome or other Apert syndrome that a child may have are as follows:

• Hearing disorders
• Heavy sweating
• The spine and neck are joined
• No hair on the eyebrows
• Stunted development and growth
• Cleft palate
• Recurrent ear infections
• Intelligence disorders ranging from mild to moderate

The presence of abnormalities in the baby's face and skull can cause him to have problems related to health and development.

In addition, the condition of the baby's upper jaw is usually smaller than its normal size. As a result, this condition causes problems when the baby's teeth are growing.

Babies and children with Apert syndrome or Apert syndrome also experience a smaller skull size, which puts pressure on the developing brain.

Apert syndrome or Apert syndrome is a congenital disorder at birth that makes the baby's intelligence level at average and experiences mild to moderate cognitive impairment.

Another symptom that is commonly experienced by babies with Apert syndrome or Apert syndrome is the condition of webbed fingers or toes.

The webbed finger is caused by the presence of two or three fingers that are joined together.

However, in very rare cases, the baby can also develop excessive fingers or toes (polydactyly).

There may be signs and symptoms not listed above. If you have concerns about a certain symptom related to the baby's condition, you should consult a doctor.

When to see a doctor?

Apert syndrome or Apert syndrome is a disorder or defect that is congenital in newborns. If you see a baby having the symptoms above or other questions, consult a doctor immediately.

The health condition of each person's body is different, including babies. Always consult a doctor in order to get the best treatment regarding the health condition of your baby.

Cause

What causes Apert syndrome?

The cause of Apert syndrome or Apert syndrome is genetic due to mutations or changes in the fibroblast growth factor receptor 2 (FGFR2) gene.

Fibroblast growth factor receptor 2 (FGFR2) is a gene that affects the growth, division, and death processes of certain cells in the body, including bone cells.

More specifically, the FGFR2 gene functions in protein production. This protein then plays an important role in the developmental stage of the fetus in the womb and thus signals the development of the body's bone cells.

This mutation in the FGFR2 gene results in the formation and closure of the baby's skull becoming imperfect.

Most of the causes of Apart syndrome or Apart syndrome occur sporadically or suddenly while the baby is still developing in the womb.

However, in some other cases, Apart syndrome or Apart syndrome can be caused by genetic factors or heredity from parent to child.

Risk Factors

What increases the risk of developing Apert syndrome?

Genetic factors are one of the reasons babies have Apert syndrome or Apert syndrome. The risk of babies born with Apart syndrome or Apart syndrome can increase if you have parents with this condition.

The cause of Apart syndrome is due to genetic factors inherited by autosomal dominant. This means that parents who have Apart syndrome have about a 50% chance of passing on this disorder to their children.

If you want to reduce the risk factors that you and your baby may have, consult your doctor immediately.

Diagnosis & Treatment

The information provided is not a substitute for medical advice. ALWAYS consult your doctor.

What are the usual tests to diagnose this condition?

Quoting from Great Ormond Street Hospital for Children, a special diagnostic test is usually not needed to check for Apert syndrome or Apert syndrome in newborns.

This is because newborns who have Apert syndrome or Apert syndrome generally have specific symptoms or physical characteristics.

To make it clearer, a doctor can make a diagnosis of Apert syndrome or Apert syndrome by looking for typical bone abnormalities in the baby's head, face, hands and feet.

In addition, tests to diagnose Apert syndrome usually include a CT scan (computerized tomography), MRI (magnetic resonance imaging), and x-rays or x-rays.

This examination aims to determine the possibility of bone abnormalities and to find out the condition of the organs in the baby's body.

While still in the womb, doctors can diagnose Apert syndrome in babies with fetoscopy tests and ultrasound tests.

Fetoscopy is an examination aimed at seeing the baby's condition as well as taking blood and tissue samples.

In contrast to ultrasound which is useful for giving an idea of ​​the condition of the baby in the womb.

What is the treatment for Apert syndrome?

Treatment for Apert syndrome or Apert syndrome in infants is not always the same between individuals. Usually, doctors recommend surgery or surgery to reduce pressure on the brain.

The operation also aims to reshape the face or to separate sticking fingers and toes.

In the process of surgery, the surgeon first separates the joined bones and realigns them. This procedure is best done between 6 months or 24 weeks of age until the baby is 8 months or 32 weeks of age.

Follow-up surgery will be required to return the jawbone and cheek back to its normal position when the child is 4-12 years old.

Furthermore, the child will need eye surgery to close the eye socket and possibly adjust the jaw as well.

It is recommended to do this operation when the child is still young to support their growth and development and intellectual abilities.

A healthy environment with parental love also contributes to the mental state of the child.

Children with Apert syndrome or Apert syndrome need life-long examinations and care. The doctor can also suggest other additional treatments according to the child's condition.

Take, for example, treatments to correct visual problems, growth and development therapy, and dental work to improve the condition.

Home remedies

What are some lifestyle changes or home remedies that can be done to treat this condition?

Even though Apert's syndrome does not technically affect a child's behavior or emotions, children still need help and support to survive their condition.

With the development of surgical techniques, children with apert syndrome can have a longer life expectancy.

With proper medical care, children can still enjoy life normally.

If you have any questions, consult your doctor for the best solution to your problem.