overview
Stickler syndrome is a genetic disorder that can cause serious problems with your eyesight, hearing, and joints. Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is usually diagnosed in infancy or childhood.Children with Stickler syndrome often have distinctive facial features – protruding eyes, a small nose with a hollowed-out face, and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate). Stickler syndrome treatment in hyderabad
symptom
- The signs and symptoms of Stickler syndrome – and the severity of those signs and symptoms – can vary widely from person to person, even within the same family.
- Eye problems. In addition to severe myopia, children with Stickler syndrome often have cataracts, glaucoma, and retinal detachments.
Hearing problems. The extent of hearing loss varies in people with Stickler syndrome. This usually affects the ability to hear high frequencies.
Bone and joint abnormalities. Children with Stickler syndrome often have joints that are too flexible and are more likely to develop abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence. Stickler syndrome treatment in hyderabad
The reasons
Stickler syndrome is caused by mutations in certain genes that are involved in the formation of collagen – one of the building blocks of many types of connective tissue. The type of collagen that is most commonly affected is used to make articular cartilage and gelatinous (glassy) material in the eyes.
Risk factors
Your child is more likely to be born with Stickler syndrome if you or your partner has the disorder.
Complications
The possible complications of Stickler syndrome include:
Difficulty breathing or eating. Difficulty breathing or feeding may occur in babies born with an opening in the roof of the mouth (cleft palate), a small lower jaw, and a tendency to tilt the tongue toward the throat.
Blindness. Blindness can occur if retinal detachments are not repaired quickly.
Ear infection. Children with abnormal facial structure associated with Stickler’s syndrome are more likely to develop ear infections than children with normal facial structure.
Deafness. The hearing loss associated with sticker syndrome can worsen over time. Stickler syndrome treatment in hyderabad