The diagnosis is based on both clinical findings and genetic tests, with Major and Minor. Each finding is given a certain number of points. A diagnosis requires the presence of at least 1 major criterion and 5 points or more in total. Hypermobility is not part of the diagnostic criteria.
Major Criteria (2 points for each criterion)
 - Orofacial Cleft palate
 - Ocular Characteristic vitreous changes or retinal abnormalities
 - Auditory High frequency sensorineural deafness
Minor Criteria 
(1 point for each criterion 1, 2, and 4, & max 2 points within criterion 3)
 - Orofacial Malar hypoplasia, broad/flat nose, micro/retrognathia
 - Auditory Hypermobile eardrum
 - Skeletal Maximum of 2 points out of 3 for: Femoral head disease, slipped epiphysis, (and/or) Radiographic evidence of osteoarthritis below age 40 yrs (and/or) Kypho/scoliosis, spondylolisthesis
 - Genetic Affected first degree relative OR presence of COL2A1, COL11A1 or COL11A2 gene mutation