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. A particular group of physical features, called Pierre Robin sequence, is also common in people 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. Many professionals that are likely to be involved in the treatment of those with Stickler's syndrome, include oral and maxillofacial surgeons; craniofacial surgeons; ear, nose, and throat specialists, ophthalmologists, audiologists and rheumatologists. The mean subconjunctivalhemorrhage score was 2.24 G 1.96 in the brimonidine group and 7.61 G 2.72 in the control group, a statistically significant difference Wilcoxon matched-pair test).