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Stickler Syndrome

Defining Characteristics

Cleft palate, bifid uvula, midfacial hypolasia (underdeveloped cheek bones, flattening of midface), high myopia causing retinal detachment, early onset arthritis, MVP, later hearing loss

Disease Development

Mutations in any of

Potential Causes

3 collagen genes: COL2A1, COL11A1, COL11A2

Risk factors

Autosomal dominant inheritance Multiple family members affected


Genetic testing