For confirmation of symptoms and the clinical diagnosis related to Marshall syndrome COL11A1 or Stickler syndrome, type II (STL2) COL11A1.
Stickler syndrome and related Marshall syndrome are autosomal dominantly inherited disorders caused by defects in three genes. Stickler syndrome, type II and Marshall syndrome are due to mutations in COL11A1. Stickler syndrome, types I and II are characterized by high myopia, retinal detachment, vitreoretinal degeneration, and cataracts. Some patients may have hearing loss, epiphyseal dysplasia and early-onset osteoarthritis. In addition, cleft palate and Robin sequence (cleft palate, small chin and glossoptosis) are seen in about 30% of the patients.
Marshall syndrome patients have hearing loss, myopia (low or high), vitreoretinal degeneration, retinal detachment, cataracts, midfacial hypoplasia, and cleft palate/Robin sequence. These patients may also have epiphyseal dysplasia and early-onset osteoarthritis.
Published estimates of test sensitivity for genes linked to certain disorders can be very inaccurate, and that it is difficult to predict the probability of detecting a mutation in any single gene for one individual. The following factors contribute to this challenge: Many disorders have overlapping phenotypes; some disorders are linked to mutations in more than one gene; in some instances genes remain to be linked to specific disorders; for most disorders, proper diagnosis requires that clinical findings are considered along with genetic findings.