/Stickler syndrome type 2

Stickler syndrome type 2

Rare Disease

MONDO:0011493

Also Known As

COL11A1 Stickler syndromeStickler syndrome caused by mutation in COL11A1Stickler syndrome type IISTICKLER syndrome, type IISTL 2STL2Stickler syndrome, beaded vitreous typeStickler syndrome, type 2Stickler syndrome, vitreous type 2

Definition

Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases). Stickler syndrome type 2 is caused by mutations in the COL11A1 gene (1p21).