Rare dominant mutations in COL11A1, often disrupting a Gly-X-Y sequence, can cause Marshall (MRSHS) (OMIM #154780) or Stickler syndromes (STL2) (OMIM #604841) marked variously by facial anomalies, sensineural hearing loss, short stature, spondyloepiphyseal dysplasia, eye anomalies, ectodermal features, and scoliosis. This evidence concerns the gene COL11A1 and Stickler syndrome type 2.