Does your child have these symptoms? Let's learn about Stickler Syndrome

Does your little one often have eye problems, hearing loss, or joint pain? Perhaps these things are accompanied by some facial changes, it can be very important to be aware of this condition that we are talking about today. Although this is a name that is a little unfamiliar to you, it is very valuable for you as a mother or father to be aware of this condition. Because the sooner you recognize it, the more opportunities you have to help your child.

Simply put, what is Stickler Syndrome?

Okay, let's understand this very simply. Imagine that our body is a beautifully constructed building. In this building, everything like bricks, walls, and roof has a cement mortar that holds everything together and gives them strength and shape, right? Similarly, every organ in our body like bones, skin, eyes, and ears has a special network of tissues that holds everything together and gives them strength and flexibility. We call these connective tissues .

Stickler syndrome is a condition caused by a defect in the genes that instruct the production of connective tissue. Just like what happens to a building when the quality of the cement mortar decreases, when this connective tissue weakens, various parts of our body can be affected, especially the development of the eyes, ears, joints, and face . This is a hereditary condition.

How common is this condition?

This is actually not a very common disease. According to statistics, this condition occurs in about one to three out of every 7,500 to 10,000 newborns. However, sometimes these symptoms are very subtle. Therefore, there are cases where the symptoms of some children go undiagnosed. Therefore, there may be more patients in the community than are actually reported.

What are the main symptoms of this disease?

This is the most important part. The symptoms of Stickler syndrome can vary greatly from person to person. Some people may have only a few of these symptoms, while others may have many. The severity of the symptoms also varies. To make it easier to understand, let's break these symptoms down into categories.

Are there different types of Stickler syndrome?

Yes, this disease is divided into several main types depending on the genetic mutation that causes it and the nature of the symptoms. Currently, 6 types have been identified. However, the first three types are the most common.

• Type I: This is the most common type. It is characterized by myopia and mild hearing loss.
• Type II: This is accompanied by severe hearing loss along with vision impairment.
• Type III: Hearing loss and joint problems are common in this type. The special thing is that the eyes are not affected in this type.
• Types IV, V, and VI: These types are very rare and can cause more serious effects on the eyes, ears, and skeletal system.

Why is this happening? What is the reason for this?

As I said before, the main reason for this is a genetic defect. Collagen is the main protein in the connective tissues of our body. This collagen is like the "gum" of the body. There are several types of genes that instruct the production of this collagen. For example, `(COL2A1, COL11A1, COL11A2)`.

A person with Stickler syndrome has a mutation or defect in one of these genes. As a result, the body is unable to produce the required quality collagen. This is what causes all of the problems mentioned earlier.

How does a child get this?

This is mainly a generational thing.

• Most often: If either parent has the gene mutation, the child has a 50% chance of inheriting it. We call this the ``autosomal dominant'' pattern.
• Rarely: Even if both parents are healthy, it is possible for both of them to carry the mutated gene without showing symptoms, and the child may inherit both and develop this condition (autosomal recessive).
• Very rare: Sometimes this condition can occur as a random genetic mutation, without anyone in the family having it.

How to diagnose the disease?

If you suspect that your child has these symptoms, when you see a doctor, he will run several tests to try to confirm the disease.

• Complete physical examination: The doctor carefully examines the child's facial features, upper palate, eyes, ears, and joints.
• Family medical history: Asking if anyone in the family has had these symptoms is very important for diagnosis.
• Vision and hearing screening: Special tests are performed by an ophthalmologist and an ear, nose and throat specialist.
• Imaging tests: Tests such as X-rays are used to check for any abnormalities in the spine or joints.
• Genetic Testing: This is the only way to definitively confirm the disease. A blood sample can be taken to identify the specific genetic mutation that causes it.

How is it treated?

First of all, Stickler syndrome is not a completely curable disease. Because it is a genetic condition. But don't worry. There are very effective treatments to control the symptoms and complications caused by this disease. Treatment is planned according to the symptoms of each patient.

• Surgery: Surgery may be needed to repair a cleft palate, reattach a detached retina (this must be done very quickly), help with breathing problems, and repair or replace damaged joints.
• Glasses and Corrective Lenses: People with vision impairments require the use of glasses or contact lenses.
• Hearing Aids: These are very helpful for people with hearing loss.
• Physical Therapy: Exercises are recommended to strengthen the muscles around the joints, improve joint mobility, and reduce pain.
• Painkillers: The doctor will prescribe appropriate medication to control joint pain.
• Dental and orthodontic treatment: If there are any problems with the position of the teeth, treatment may be necessary.

Is it possible to live a normal life with this condition?

Yes, absolutely. Although there is no cure for this, this disease does not affect a person's life expectancy. The most important thing is to recognize the symptoms early, treat them properly, and stay in regular contact with your doctor. If that happens, most people can live normal, active, and fulfilling lives.

In what situations should you see a doctor?

If you or your child has this disease, keep an eye out for the following symptoms. If any of these appear, see your doctor immediately.

• If you experience severe joint pain .
• If you experience sudden blurred vision, flashes of light, floaters, or shadows in your vision, these could be signs of a retinal detachment. This is a condition that requires emergency medical attention.
• If the child has difficulty eating or drinking.
• If there is blood, pus-like fluid coming from the surgical site, swelling, or redness (these are signs of infection).
• If you have any difficulty breathing , go to the nearest hospital Emergency Department (ETU) immediately without delay.

If someone in your family has this disease, and you are planning to have a child, it is very important to talk to your doctor about receiving genetic counseling.

Stickler Syndrome, genetic disease, connective tissue disease, vision impairment, hearing loss, joint pain