MASS, Myopia, mitral valve prolapse, borderline and non-progressive aortic root dilatation, skeletal findings and striae; STL1, Stickler syndrome, type I; OSCPD, osteoarthritis with mild chondrodysplasia; MFS, Marfan syndrome; LDS3, Loeys-Dietz syndrome 3; AOS, Aneurysms-Osteoarthritis syndrome; rep., reported; r.u., rate unknown. The gene discussed is COL2A1; the disease is Stickler syndrome type 1.