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

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