Stickler syndrome

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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 June 2024

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