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

Definition

What is Crouzon syndrome (Crouzon syndrome)?

Crouzon syndrome or Crouzon syndrome is a form of birth defect characterized by abnormalities in the shape of the baby's skull.

Crouzon syndrome or Crouzon syndrome is a congenital birth defect or disorder caused by skull bones that fuse prematurely.

The process of joining the skull bones too quickly makes it difficult for the skull to grow normally, which affects the shape of the baby's head and face at birth.

Basically, the skull is not a complete skeleton, but a combination of seven different bony plates. They are connected to each other by a flexible network called sutures.

Sutures are joints in the skull bones that are connected to each other thanks to the connective tissue. Normally, the skull can grow slowly as the baby's brain increases in volume while in the womb.

Over time, the sutures then harden and eventually close to unite the seven bony plates into a complete skull.

If one or more suture tissues close faster than they should, the baby's brain cannot develop to its full potential.

This is because the development of the brain is hampered by the fused skull bones. If more than one suture is involved, it is known as "complex craniosynostosis".

Crouzon syndrome or Crouzon syndrome is the most common type of craniosynostosis syndrome.

Apart from sutures, the bones in the face can also join more quickly so that the cheekbones and upper jaw are not fully developed.

This condition makes the bones around the eyes become wider and seems to be deeper, which makes the eyes appear to stick out.

This syndrome causes the skull shape and facial frame to become deformed. Crouzon syndrome or Crouzon syndrome is a condition that can begin to appear in the first few months of a baby's age and continue to develop until the age of two or three years.

How common is this condition?

Crouzon syndrome or Crouzon syndrome is a rare congenital disorder or defect that can be genetically inherited.

In fact, the exact number of cases of Gaucher's disease is not known. However, according to the U.S National Library of Medicine, Crouzon syndrome or Crouzon syndrome can affect about 1 in 16 million newborns.

Signs & Symptoms

What are the signs and symptoms of Crouzon syndrome (Crouzon syndrome)?

Crouzon syndrome or Crouzon syndrome is a congenital birth defect or disorder that can cause different symptoms for each child.

But generally, the various signs and symptoms of Crouzon syndrome or Crouzon syndrome that are most likely to appear are as follows:

Unusual face shape
Shallow middle face which can cause difficulty breathing
High forehead
Eyes wide and protruding
The eye cavity is double, causing visual disturbances
Cross-eyed (strabismus)
The nose is like a small beak
Teeth problems
Low ear position
Hearing loss due to possible narrow ear canals

Some babies born with Crouzon syndrome or Crouzon syndrome may also experience less common symptoms such as cleft lip and palate.

The disproportionate shape of the skull bones can cause prolonged headaches and psychological problems later in life.

In fact, some children with Crouzon syndrome or Crouzon syndrome may also have developmental problems.

However, you as a parent don't need to worry because children born with Crouzon syndrome or Crouzon syndrome usually have normal cognitive intelligence.

When to see a doctor

Crouzon syndrome or Crouzon syndrome is a congenital disorder that can cause symptoms of varying severity.

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 Crouzon syndrome (Crouzon syndrome)?

Crouzon syndrome is a condition caused by a mutation or change in a gene. According to Great Ormond Street Hospital for Children, the genes involved in Crouzon syndrome are FGFR2 (fibroblast growth factor receptor 2) and FGFR3.

These genes carry messages to make proteins that function in regulating bodily functions. The protein that is produced will help carry signals for the cells of the immature fetal body so that they can become bone cells during development in the womb.

Gene mutations can affect any function that a particular protein has. When the baby develops in the womb, the FGFR2 and FGFR3 proteins signal the bone cells to start forming.

Mutations or changes in the FGFR2 gene are thought to result in an overactive protein. As a result, this excessive gene mutation can cause the baby's skull to fuse too quickly.

Cases of mutations or changes in genes in babies born with Crouzon syndrome can be passed from parent to child. However, in some cases, these birth defects or abnormalities can also develop suddenly.

However, if this congenital disorder is inherited, parents can pass on to their children with an autosomal dominant pattern of inheritance.

This means that when one parent has Crouzon syndrome, each of your children has a 50 percent chance of inheriting the condition.

In other words, babies only need to inherit one copy of the mutated gene from one parent to develop Crouzon syndrome.

Meanwhile, in about 25-50% of children with Crouzon syndrome, gene mutations occur spontaneously.

This means babies don't need to be born to parents with a history of Crouzon syndrome to have this condition.

Risk Factors

What increases the risk of developing Crouzon syndrome (Crouzon syndrome)?

The risk of a baby developing Crouzon syndrome or Crouzon syndrome increases when born to parents who also have this congenital disorder.

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?

Babies born with Crouzon syndrome do not usually need special diagnostic tests because they can easily be seen on a physical examination at birth.

As the child grows, imaging tests such as x-rays or x-rays, computerized tomography (CT) scans, and magnetic resonance imaging (MRI) may be performed.

These tests are useful for monitoring the growth of the child's skull during and after treatment.

In addition, this examination can also help doctors to diagnose the possibility of hydrocephalus which does not rule out the possibility of developing due to Crouzon syndrome.

If needed according to the baby's condition, the doctor may recommend genetic testing. Genetic testing aims to find out the possibility of mutations or changes in genes, especially if you are planning to become pregnant later.

Not only that, children may also be advised to routinely perform examinations related to hearing function and vision function.

What are the treatment options for Crouzon syndrome (Crouzon syndrome)?

Crouzon syndrome cases have a risk of affecting various parts of the body. That is why, treatment related to birth defects or abnormalities should be handled by doctors who are experts in their fields.

Treatment for these congenital disorders may involve a craniofacial specialist or a doctor who specializes in the treatment of neonatal facial and skull disorders.

In more severe cases, doctors may perform surgery early in birth to open the sutures and give the brain room to grow.

Furthermore, surgery can be performed again to repair the damage to the center of the face.

Your child's eye socket can also be repaired to position the eye properly inside the skull so that the eyelid can close completely.

Operations can also be done to:

Reduces pressure inside the skull
Repairing cleft lip
Correcting the wrong jaw
Straightening crooked teeth

In addition, children with hearing problems can wear hearing aids to amplify sounds. Children with this condition may also need speech and language therapy.

In addition to surgical treatment, children with Crouzon syndrome and their families can seek genetic counseling for support. These therapies often help to counteract the psychological effects of genetic conditions.

If the skull continues to grow during childhood and adolescence, further surgery may be performed to correct the shape of the skull and face.

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

Hello Health Group does not provide medical advice, diagnosis or treatment.