Stickler Syndrome

The combination of high myopia, a cleft palate, hearing loss and early-onset osteoarthritis in a young adult points to Stickler syndrome, which is an inherited collagenopathy, often called hereditary arthro-ophthalmopathy. It is usually autosomal dominant and most commonly caused by COL2A1 mutations in type I and COL11A1 in type II, affecting collagen in the eye, ear, palate and cartilage, and it produces a tetrad of ocular, orofacial, auditory and skeletal features. Orthopaedically, patients present as this one has - with early-onset osteoarthritis, joint hypermobility that can progress to stiffness and pain, mild spondyloepiphyseal changes and scoliosis - and I would manage these with standard joint-preserving and symptomatic care. But the key non-orthopaedic priority is the eyes: the ocular disease, with high myopia and vitreoretinal abnormalities, carries a major risk of retinal detachment, which is potentially blinding, so mandatory lifelong ophthalmology surveillance with prophylaxis and prompt treatment of retinal tears and detachment is essential. I would also ensure the orofacial features are addressed - Stickler is a leading syndromic cause of Pierre Robin sequence, so the airway, cleft palate and any velopharyngeal insufficiency need attention - along with the sensorineural hearing loss. So my role, beyond managing the joints, is to recognise the syndrome and make sure the sight-, airway- and hearing-related care is in place, with genetic counselling, in a multidisciplinary team.