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 October 2023.
Newly diagnosed with
Autosomal recessive Stickler syndrome?
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Advocacy Organizations
The Chandler Project
The Chandler Project (TCP) provides those affected with achondroplasia, and other forms of skeletal dysplasia (dwarfism), with the latest in pharmaceutical research and surgical advancements.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.