What is Stickler syndrome

Stickler syndrome is a rare genetic disorder that affects connective tissues in the body. It is characterized by a range of symptoms that primarily impact the eyes, ears, and joints. Individuals with Stickler syndrome often experience vision problems such as nearsightedness, cataracts, and retinal detachment. They may also have hearing loss, particularly in the high-frequency range.

The syndrome can also affect the joints, leading to joint pain, stiffness, and early-onset arthritis. Additionally, individuals with Stickler syndrome may have distinctive facial features, including a flattened facial appearance, a small nose, and a cleft palate.

Stickler syndrome is caused by mutations in certain genes involved in the production of collagen, a protein that provides structure and strength to connective tissues. The severity of symptoms can vary widely among affected individuals, even within the same family.

While there is no cure for Stickler syndrome, treatment focuses on managing the specific symptoms and complications. This may involve corrective eyewear, hearing aids, speech therapy, and joint pain management. Regular medical monitoring and support from a multidisciplinary team can help individuals with Stickler syndrome lead fulfilling lives.