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Autosomal recessive Stickler syndrome
Disease definition
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.
ORPHA:250984
Classification level: Subtype of disorderDetailed information
Article for general public
Professionals
- Summary information
- Greek (2012, pdf)
- Anesthesia guidelines
- Czech (2017)
- English (2017)
- Diagnostic criteria
- English (2005, pdf)
- Clinical genetics review
- English (2021)
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
Specialised Social Services
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