Kniest dysplasia is caused by autosomal dominant mutations in COL2A1 and is characterised by short-trunked dwarfism, kyphoscoliosis, enlarged joints, orofacial abnormalities, hearing loss, myopia, cataracts, lens luxation, blepharoptosis, abnormal vitreous and an increased risk of retinal detachment [21, 22]. The gene discussed is COL2A1; the disease is Kniest dysplasia.