A rare, inherited, multiple system connective tissue disorder of ocular, auditory, orofacial, and skeletal abnormalities due to mutations in the COL2A1 (Type1), COL11A1 (Type 2), and COL11A2 (without ocular signs, Type 3) genes. These mutations cause collagen coding abnormalities. Ocular findings include myopia, detached retina, and cataract. Hearing disorders include sensorineural and conductive hearing loss. Orofacial dysmorphism includes cleft palate and midface dysplasia. Skeletal abnormalities include precocious arthritis and mild spondyloepiphyseal dysplasia.