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autosomal recessive Stickler syndrome

Disease Summary
Associated Targets (4)


Mondo Description 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.
Mondo Term and Equivalent IDs
MONDO:0016647:  autosomal recessive Stickler syndrome