Synonyms: Hereditary progressive arthroophthalmopathy
A rare group of genetic connective tissue disorders characterized by ophthalmic auditory orofacial and articular manifestations. The two main clinical forms are clinically distinguished by the vitreous phenotype; stickler type 1 by a vestigial vitreous gel in the immediate retrolental space bordered by a distinct folded membrane and Stickler type 2 by sparse and irregularly thickened bundles of fibers throughout the vitreous cavity.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version September 2024
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Stickler syndrome?
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Advocacy Organizations
The Marfan Foundation
The Marfan Foundation is a nonprofit organization that saves lives and improves the quality of life of individuals with genetic aortic and vascular conditions including Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos syndromes.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.