Stickler Syndrome is a group of disorders affecting different types of collagen (collagenopathy). Stickler Syndrome Type 5 (STL5) is a very rare type.

Chromosome: 1p34

Gene: COL9A2

Product: Collagen IX


Inheritance: autosomal recessive


Clinical manifestations:

(1) high myopia

(2) vitreoretinal degeneration with retinal detachment

(3) sensorineural hearing loss

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