Stickler Syndrome is a group of disorders affecting different types of collagen (collagenopathy).

Chromosome: 12q13.11

Gene: COL2A1

Product: Collagen II


Inheritance: autosomal dominant


Percentage of patients with Stickler Syndrome: 70%


Clinical manifestations:

(1) myopia

(2) vitreoretinal degeneration

(3) cataracts

(4) sensorineural hearing loss

(5) facial dysmorphism including mid-facial flatness

(6) cleft and/or high-arched palate

(7) bifid uvula

(8) early onset osteoarthritis

(9) other musculoskeletal disorders (scoliosis, chest deformities, etc)

(10) mitral valve prolapse

(11) usually associated with normal stature


NOTE: Historically the type of changes in the vitreous cavity were classified as type 1 or type 2 but this classification preceded current knowledge.


To read more or access our algorithms and calculators, please log in or register.