Stickler Syndrome

Stickler Syndrome

Overview

Stickler syndrome is a genetic condition that affects connective tissues that support and give structure to other organs in your body, primarily in the face, ears, eyes and joints. This hereditary condition can cause facial abnormalities like a cleft palate. The condition can lead to problems with vision, hearing and movement.

Stickler syndrome is also known as Stickler dysplasia.

Stickler syndrome can affect anyone. People who have a family member with Stickler syndrome are at a higher risk of having the condition. But in some people, a spontaneous genetic change (mutation) causes the condition and there’s no tie to family history.

Symptoms

Stickler syndrome affects different children in different ways. One child could have a mild form of the syndrome with just a few symptoms that may be so mild that they go undiagnosed or never need treatment. Another child may have most of the symptoms listed below. Here are some of the more common symptoms of Stickler syndrome, organized by the part of your child’s body they affect:

Vision and eye health

Myopia (nearsightedness) — can sometimes be extreme

Retinal detachment (retina separates from the back of the eye) — if left untreated, it can cause blindness

Cataracts (clouding of the eye lens)

Astigmatism (cornea or lens not spherical)

Vitreous degeneration (the gel within the eye liquefies and pulls away from the retina)

Crossed eyes (strabismus)

Glaucoma (elevated eye pressure) — if left untreated, glaucoma can cause blindness

Hearing and ear health

Inner ear hearing loss — over time, this hearing loss can become more severe and eventually lead to deafness

Frequent ear infections

Joints and bones

Joint pain/enlarged joints

Osteoarthritis (degenerative joint disease) — in very severe cases, knee or hip replacement surgery may be necessary

Loose joints that are abnormally flexible

Knock knees (Genu valgum)

Scoliosis (curvature of the spine)

Legg-Calve-Perthes disease (hip degeneration)

Facial features and mouth

Flat cheeks and nasal bridge (most noticeable in infants)

Small jaw

Palate abnormalities/obstructed airway

Split uvula (the tissue that hangs down in the back of the throat is divided)

Orthodontic issues

Pierre Robin sequence (small jaw, cleft palate, tongue placement abnormalities, and breathing and feeding problems)

 Causes

A genetic mutation of one of six genes causes Stickler syndrome. The six genes are:

COL2A1.

COL11A1.

COL11A2.

COL9A1.

COL9A2.

COL9A3.

These genes are responsible for forming collagen (proteins that add flexibility and strength to connective tissue). When a genetic mutation occurs, collagen doesn’t develop properly. The mutated genes mainly affect the collagen that makes cartilage in the body and the jelly-like substance inside the eyes.

If a child receives a mutated copy of any one of these genes, they will show symptoms of Stickler syndrome.

Type of Stickler syndrome

There are six types of Stickler syndrome. Symptoms of each type range in severity as the types increase in number. Types I through III are most common – with type I being the most common. Types IV, V and VI are extremely rare. Symptoms for each type include:

Type I: Mild hearing loss, nearsightedness.

Type II: Severe hearing loss, nearsightedness.

Type III: Hearing loss, joint problems. There are no vision symptoms.

Type IV: Severe hearing and vision loss, mild enlargement of the ends of long bones (spondyloepiphyseal dysplasia), arthritis.

Type V: Severe hearing and vision loss, underdeveloped mid-face or a cleft palate, mild enlargement of the ends of long bones (spondyloepiphyseal dysplasia), arthritis.

Type VI: Severe nearsightedness, early-onset severe hearing loss, joint pain, misshapen bones.

Diagnosis

Healthcare providers classify Stickler syndrome into different types during diagnosis. Each type has varying symptoms. Your healthcare provider will identify the type of Stickler syndrome using your family medical history and diagnostic tests. Diagnosis may involve:

Genetic testing: Your healthcare provider studies a sample of blood or tissue to identify the gene or genetic mutation that’s responsible for your symptoms.

Imaging: Tests that provide images of the inside of the body can help your healthcare provider identify abnormalities in the bones and joints.

Physical exam: During a physical exam, your healthcare provider can assess symptoms in the face, ears, eyes and joints.

Vision and hearing tests: These tests enable your healthcare provider to identify problems with the eyes and ears

Treatment

We view the diagnosis as a starting point: Now we’re able to begin the process of treating your child — with all the means at our disposal — so that we may effectively manage the condition and allow your child to have a healthy life.

Stickler syndrome can be a complicated condition, and it affects different kids in different ways. Some children with Stickler syndrome may not need to be treated at all.

For those children who do need treatment, we focus on managing your child’s symptoms.

Treatments fall into several categories, depending on what part of your child’s body is affected.

Eyes and vision: Corrective lenses are often an essential part of treating the severe nearsightedness of many children with Stickler syndrome. If your child’s retina detaches, laser surgery can correct the problem. Remember, however, that a detached retina is an emergency situation. If your child has any of the warning signs [LINK to retinal detachment warning signs in When should we see a doctor? section], contact an eye specialist as soon as possible.

Ears and hearing: Many different types of hearing aids are available to help your child if he’s suffering from hearing loss.

Joints and bones: If your child has the flexible joints characteristic of Stickler syndrome, he may experience some pain after physical activity. Anti-inflammatory medications, such as ibuprofen, can help reduce any swelling or pain. If your child has severe arthritis, joint surgery may be indicated.

Facial features and mouth: If your child was born with a cleft palate (a hole in the roof of his mouth), surgeons can repair it, typically when he is around nine months of age.

Heart conditions: Most children who have mitral valve prolapse don’t need any treatment

If treatment is necessary, doctors can use medications to treat symptoms such as chest pain and palpitations. Medications can also be used to strengthen your child’s heartbeat, widen his blood vessels, regulate heart rhythms, and reduce the chance of blood clots forming.

If your child has a significant amount of blood flowing backward through the valve, doctors can perform surgery to correct the problem.

Depending on the severity of your child’s condition, your doctor may recommend a series of follow-up visits to check for complications and make sure that we’re managing the Stickler syndrome effectively.

A typical follow-up visit may include some or all of the following:

A physical exam

Laboratory testing

Imaging scans

Your child's physician and other members of your care team will work with you to set up a schedule of follow-up visits.

Type of Doctor Department :  An ophthalmologist (eye doctor), an audiologist (hearing specialist), an orthopedist