Stickler syndrome
Stickler syndrome is a genetic disorder that causes severe vision, hearing and joint problems It is also known as congenital progressive arthro-ophthalmopathy and is usually diagnosed in infancy or childhood.
Children with Stickler syndrome have a characteristic appearance - bulging eyes, a small nose and a tucked chin. They are often born with soft palate pathology
Stickler syndrome cannot be cured, however symptoms can be controlled and complications can be avoided as a result of treatment. In some cases, it is necessary to perform an operation to correct physical pathologies
Stickler syndrome is caused by a mutation in collagen genes Collagen is one of the building materials of connective tissue The type of collagen that is most often damaged is involved in the formation of joint cartilage and the vitreous body of the eye.
If you have Stickler syndrome and your partner does not, there is a 50% chance that your child will have it Rarely, children of healthy parents can develop Stickler syndrome In this case, Stickler syndrome is caused by a new mutation in one of the genes
The signs and symptoms of Stickler syndrome and their severity vary from person to person
Vision problems Along with nearsightedness, children with Stickler syndrome often have cataracts, glaucoma, and retinal detachment.
Hearing difficulty The degree of hearing loss varies among people with Stickler syndrome The perception of high-frequency sounds is most often affected
Pathologies of bones and joints Children with Stickler syndrome often have hypermobile joints and are at greater risk of developing curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence
When to consult a doctor
Regular visits to the doctor are necessary to control the worsening of symptoms. Early treatment can prevent disabling complications Children under 5 years of age should have their hearing checked every 6 months, and then once a year
