Stickler Syndrome

A group of inherited disorders of the connective tissue characterized by nearsightedness and other vision problems, a flattened facial structure, hearing loss, and joint problems. Stickler syndrome is estimated to affect 1 in every 10,000 people, and its symptoms are usually apparent in infancy or early childhood. Stickler syndrome almost always occurs in people who have a parent with the condition; a person who has one parent with Stickler syndrome has a 50% chance of developing the condition.

Connective tissue is found throughout the body and serves to support the body’s organs and bind tissues to one another. Tendons and ligaments that hold together bones in a joint are examples of connective tissue. People with Stickler syndrome have a genetic mutation that affects their production of collagen, a key component of connective tissue. As with Ehlers-Danlos syndrome and Marfan syndrome, other inherited conditions of the connective tissue, Stickler syndrome can cause joints to be excessively flexible, or hypermobile. Hypermobile joints are less stable than normal and are at increased risk of injuries and muscle soreness. People with Stickler syndrome may therefore have to avoid very strenuous activity and use nonsteroidal anti-inflammatory drugs (NSAIDs) such as ibuprofen (Advil, Motrin IB). Stickler syndrome can also cause osteoarthritis — particularly osteoarthritis of the hip — to develop in childhood or early adulthood, and people with the condition are more likely to need joint replacements. In addition, abnormal curvature of the spine, known as scoliosis, is more common in people with Stickler syndrome.

The symptoms of Stickler syndrome will vary — and vary in severity — from person to person, and treatments for the condition are designed to address each symptom individually. Most people with Stickler syndrome will have underdeveloped bones in the middle of the face, giving them a smaller nose and nasal bridge and a small lower jaw. Some babies are born with an opening in the roof of the mouth (cleft palate), which can be corrected with surgery. In many cases, Stickler syndrome causes severe nearsightedness, and corrective lenses are therefore mainstays of treatment. Detachment of the retina, glaucoma (increased pressure in the eye), cataracts (clouding of vision), and abnormalities of the vitreous fluid in the eye are also common. Hearing loss caused by Stickler syndrome can be treated with hearing aids. In addition, people diagnosed with Stickler syndrome are at increased risk for the heart condition mitral valve prolapse (in which the heart valves don’t function properly) and should be screened for it in childhood.

Robert S. Dinsmoor is a medical writer and editor based in Massachusetts.

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