Stickler syndrome type 2
Stickler syndrome 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).
Also known as COL11A1 Stickler syndrome, Stickler syndrome caused by mutation in COL11A1, Stickler syndrome type II — per MONDO