Stickler Syndrome is a group of disorders affecting different types of collagen (collagenopathy).
Chromosome: 1p21
Gene: COL11A1
Product: Collagen XI
Inheritance: autosomal dominant
Clinical manifestations:
(1) mild facial dysmorphism including mid-facial flatness
(2) variable myopia, with onset before 6 years of age
(3) variable retinal degeneration, with high risk of retinal detachment
(4) cataracts
(5) sensorineural hearing loss
(6) cleft and/or high-arched palate
(7) joint hypermobility
(8) bifid uvula
(9) Pierre-Robin sequence
NOTE: Historically the type of changes in the vitreous cavity were classified as type 1 or type 2 but this classification preceded current knowledge.
