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.

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