Stickler syndrome synonyms

Stickler syndrome, also known as hereditary progressive arthro-ophthalmopathy, is a rare genetic disorder that affects connective tissues in the body. It is characterized by a range of symptoms primarily affecting the eyes, ears, and joints. Stickler syndrome is named after Dr. Gunnar B. Stickler, who first described the condition in the 1960s.

Synonyms for Stickler syndrome:

• Pierre Robin sequence with cleft palate and ocular abnormalities


• Stickler dysplasia


• Stickler arthro-ophthalmopathy


• Stickler's syndrome


• Stickler's disease


• Stickler's arthropathy


• Stickler's dysplasia


• Hereditary arthro-ophthalmopathy


• Hereditary progressive arthro-ophthalmopathy

Stickler syndrome is primarily caused by mutations in certain genes involved in the production of collagen, a protein that provides structure and strength to various tissues in the body. The most commonly affected genes are COL2A1, COL11A1, and COL11A2. These mutations disrupt the normal formation of collagen, leading to the characteristic features of the syndrome.

The key features of Stickler syndrome include:

• Ocular abnormalities: Individuals with Stickler syndrome often experience nearsightedness (myopia), cataracts, glaucoma, and retinal detachment.


• Hearing loss: Sensorineural hearing loss is a common manifestation of Stickler syndrome, which can range from mild to severe.


• Joint problems: Joint pain, stiffness, and early-onset osteoarthritis are frequently observed in individuals with Stickler syndrome.


• Cleft palate: A significant number of affected individuals have a cleft palate, which can contribute to feeding difficulties and speech problems.


• Facial abnormalities: Some individuals may exhibit distinctive facial features, such as a flat midface, small chin, and a prominent forehead.

Diagnosis of Stickler syndrome involves a thorough clinical evaluation, genetic testing, and imaging studies. While there is no cure for Stickler syndrome, management focuses on addressing the specific symptoms and complications associated with the condition. This may involve regular eye and ear examinations, hearing aids, speech therapy, orthopedic interventions, and genetic counseling for affected individuals and their families.

by Diseasemaps