Stickler's syndrome

Stickler's syndrome is an inherited, progressive connective tissue disorder that typically affects the eyes, ears, bones, joints and face. Doctors may also refer to it as Stickler dysplasia or hereditary progressive arthro-ophthalmopathy.

This disorder is due to a defective gene involved in the formation of collagen, a fibrous protein found in connective tissues. The defect is autosomal dominant, which means that the child of a parent with the abnormal gene has a 50 percent chance of inheriting it. But in a few cases, the gene defect is the result of a spontaneous mutation — meaning it occurs with no prior family history of the disease.

Stickler's syndrome has a range of signs and symptoms, including:

• A flat face with a small nose and little or no nasal bridge
• Severe nearsightedness (myopia)
• Retinal detachment
• Glaucoma
• Blindness
• Hearing loss
• Joint pain
• Cleft palate
• Small lower jaw

A doctor may make a diagnosis based on signs and symptoms and a physical exam. Stickler's syndrome is most often diagnosed in childhood. Treatment is directed at managing the signs and symptoms and may include:

• Laser surgery for retinal detachment
• Surgical repair of a cleft palate
• Joint surgery
• Hearing aids
• Walking aids