Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. This combination of features can lead to feeding problems and difficulty breathing.
There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene. A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome. Individuals with Stickler syndrome experience a range of signs and symptoms. Some people have no signs and symptoms; others have some or all of the features described below. This is caused by underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. Children with a cleft palate are also prone to ear infections and occasionally swallowing difficulties.
The Brazilian Statistics Institute, an estimated 14.5% of the population are people with some disability and among these, 16.6 million have some degree of visual disability, and nearly 150 thousand have declared a total sight loss