Learn About Stickler Syndrome
Stickler syndrome is a group of hereditary conditions that are characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals, even among members of the same family.
Variants (also called mutations) in several genes cause the different types of Stickler syndrome. Approximately 80 percent of people with Stickler syndrome have a variant in the COL2A1 gene. Variants in the COL11A1 gene are the next most common cause of Stickler syndrome.
Stickler syndrome affects an estimated 1 in 7,500 to 9,000 newborns.
Most often, Stickler syndrome is inherited inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. This includes cases of Stickler syndrome that are caused by variants in the COL2A1, COL11A1, and COL11A2 genes. Sometimes, Stickler syndrome is the result of a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These affected individuals have no history of the disorder in their family.
Chicago Arbor Eye Institute
Michael Blair is an Ophthalmologist in Chicago, Illinois. Dr. Blair is rated as an Elite provider by MediFind in the treatment of Stickler Syndrome. His top areas of expertise are Retinal Detachment, Stickler Syndrome, Retinopathy of Prematurity, Diabetic Retinopathy, and Vitrectomy.
Martin Snead practices in Cambridge, United Kingdom. Mr. Snead is rated as an Elite expert by MediFind in the treatment of Stickler Syndrome. His top areas of expertise are Stickler Syndrome, Retinal Detachment, Fountain Syndrome, Deafness Craniofacial Syndrome, and Vitrectomy.
Allan Richards practices in Cambridge, United Kingdom. Mr. Richards is rated as an Elite expert by MediFind in the treatment of Stickler Syndrome. His top areas of expertise are Stickler Syndrome, Fountain Syndrome, Retinal Detachment, Fibrochondrogenesis, and Vitrectomy.
Summary: CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, in...
Published Date: December 19, 2024
Published By: National Institutes of Health