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
Lab/Imaging
Genetic testing