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.
