Stickler's syndrome is an inherited, progressive connective tissue disorder. Doctors may also refer to it as hereditary progressive arthro-ophthalmopathy. It typically affects the eyes, ears, bones, joints and face.
This disorder is due to a defect in a 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 a spontaneous mutation — meaning it occurs with no family history of the disease.
Signs and symptoms of Stickler's syndrome may include:
- A flat face with a small nose and little or no nasal bridge
- Severe nearsightedness (myopia)
- Retinal detachment
- Blindness, occasionally
- Hearing loss
- Joint pain
- Cleft palate
- Small lower jaw
A doctor may make a diagnosis based on signs and symptoms and a physical exam. It's most often diagnosed in childhood. Treatment is directed at the affected organs and may include:
- Laser surgery for retinal detachment
- Surgical repair of a cleft palate
- Joint surgery
- Hearing aids
- Walking aids, such as a cane
