Stickler Syndrome is a group of disorders affecting different types of collagen (collagenopathy). Stickler Syndrome Type 4 (STL4) is a very rare form.
Chromosome: 6q13
Gene: COL9A1
Product: CollagenType IV
Inheritance: autosomal recessive
Clinical manifestations:
(1) myopia
(2) sensorineural hearing loss, which may be unilateral
(3) exudative vitreoretinopathy
(4) epiphyseal dysplasia
