Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. This combination of features can lead to feeding problems and difficulty breathing. The syndrome is thought to arise from a mutation of several collagen genes during fetal development. It is a sex independent autosomal dominant trait meaning a person with the syndrome has a 50% chance of passing it on to each child.
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. In addition, each feature of this syndrome may vary from subtle to severe.
The patients with Stickler syndrome consisted of 21 (42%) women and 29 (58%) men, with a mean age of 29.56 years. Of the 50 patients, 34 (68%) had traumatic and 16 (32%) had spontaneous Stickler syndrome. Of traumatic Stickler syndrome group 24 (70.6%) were men and 10 (29.4%) were women. Stickler syndrome was more common in the temporal areas than other areas (40.5%)