Autosomal recessive Stickler syndrome
A rare type of Stickler syndrome characterized by moderate to severe sensorineural hearing loss high myopia retinal degeneration vitreous anomalies and epiphyseal dysplasia. Midface hypoplasia cleft palate as well as additional skeletal manifestations (such as platyspondyly scoliosis and tibial and femoral bowing at birth) have also been observed.
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 April 2024
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Autosomal recessive 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.
Clinical Trials
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