Stickler Syndrome

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Stickler Syndrome is an inherited disorder than can affect multiple parts of your body, including your eyes, face, ears, heart, bones and joints. The cause is a gene mutation that affects the formation of a connective tissue called collagen.

Stickler syndrome is usually diagnosed in young children. If your child has this syndrome, treating the signs and symptoms can help your child manage the disorder and live a full, productive life.

A combination of the following symptoms are common in children:

  • Severe nearsightedness This common condition, also called myopia, is a sight disorder in which you can see near objects clearly, but objects farther away appear blurry. Children with this syndrome are often born with severe nearsightedness.
  • Altered facial features Children with Stickler syndrome often have a somewhat flattened facial structure with a small nose and a slight or absent nasal bridge. These altered features often become less distinctive with age.
  • Hearing difficulties The extent of hearing loss varies among people with this condition. The hearing loss tends to worsen over time.
  • Excessive joint flexibility The ability to painlessly extend the joints beyond the normal range of motion is a characteristic of people with this syndrome. As your child gets older, any extreme joint flexibility will likely lessen or disappear and your child may develop achy, swollen joints.

  • Other symptoms may include slender arms and legs and long fingers.

    Stickler syndrome is an inherited disorder caused by a defective gene involved in the formation of a protein called collagen. Collagen is the building block of many types of connective tissues, which support your body's internal structures.

    Genes are segments of DNA that "code" for all of your characteristics — including traits you can see, such as eye color, and traits you can't see but that can affect your health, such as the propensity to develop high cholesterol. You receive your genes, which occur in pairs, from your parents. One half of each pair is inherited from your mother, the other half is from your father. Some gene pairs can be made up of one dominant gene and one recessive gene. In these instances, the effect of a dominant gene "masks" the effect of a recessive gene. This pattern of inheritance is called autosomal dominant inheritance. If a dominant gene is mutated disease may result.

    If you have this syndrome and your partner does not, the chances that you'll pass the condition on to any of your children is 50 percent. The severity of the symptoms can vary among family members.

    Rarely, people may develop this syndrome without inheriting a mutant gene. In these cases, Stickler syndrome results from a random mutation in one of your genes. It's not certain why random gene mutations occur.

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    Treatment for Stickler syndrome focuses on addressing the signs and symptoms of the disorder. There's no cure for Stickler syndrome.

  • Surgery Babies born with a hole in the roof in their mouths undergo surgery to repair the defect, usually nine months to a year after birth. During this procedure, tissue from the roof of the mouth may be stretched to cover the cleft palate. This surgery helps relieve problems feeding or breathing.
  • Corrective lenses Corrective lenses are important for treating the severe nearsightedness associated with this syndrome. Some people notice better corrected vision with contact lenses than with glasses.
  • Hearing aids If your child has problems hearing, you may find that your child's quality of life is improved by wearing a hearing aid.
  • Anti-inflammatory medications Medications such as ibuprofen (Advil, Motrin, others), naproxen (Aleve, Naprosyn, others) and aspirin relieve joint swelling, stiffness and pain. Taking these medications before or after physical activity may help your child move more comfortably.

  • In addition to treating any signs and symptoms, your child will likely continue seeing doctors regularly for eye exams and hearing assessments to monitor whether his or her vision and hearing change over time.

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