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.There are three variants of Stickler syndrome identified, each associated with a collagen biosynthesis gene.
A particular group of physical features, called the Pierre Robin sequence, is common in children with Stickler syndrome. Robin sequence includes a U-shaped or sometimes V-shaped cleft palate (an opening in the roof of the mouth) with a tongue that is too large for the space formed by the small lower jaw. Children with a cleft palate are also prone to ear infections and occasionally swallowing difficulties.
The incidence of SCH was reported as 2.9% in a study with 8726 patients, and increase with age was observed, particularly over 50 years of age. It is thought that this significant increase depends on the increase of prevalence of systemic hypertension after the age of 50 years