Definition
An inherited collagen disorder of the eye, ear, orofacial structures and joints. It is the commonest inherited cause of retinal detachment in childhood.
Aetiology
- COL2A1 mutations in type 1, the commonest, with a membranous vitreous
- COL11A1 mutations in type 2, with a beaded vitreous
- COL11A2 mutations in a non ocular form
- Autosomal dominant, with rare recessive types from COL9 genes
Epidemiology
- Estimated incidence about 1 in 7,500 to 9,000 newborns
- Underdiagnosed because expression varies within families
Clinical Features
- High myopia, vitreous anomaly and retinal detachment
- Pierre Robin sequence with cleft palate and micrognathia
- Flat midface and sensorineural hearing loss
- Joint hypermobility in childhood, then early osteoarthritis
- Mild spondyloepiphyseal dysplasia with flattened vertebrae
- Scoliosis, kyphosis and Scheuermann like changes
- Coxa valga and Perthes like changes of the femoral head
Investigations
- Radiographs show flat epiphyses, platyspondyly and acetabular dysplasia
- Ophthalmology review defines the vitreous type
- Genetic testing confirms the subtype
Differential Diagnosis
- Multiple epiphyseal dysplasia
- Ehlers-Danlos syndrome
- Marfan syndrome
- Spondyloepiphyseal dysplasia congenita
- Kniest dysplasia
Management
- Ophthalmic surveillance. Prophylactic retinal treatment lowers detachment risk
- Joint protection. Low impact activity for hypermobile joints
- Scoliosis care. Bracing or fusion by standard indications
- Arthroplasty. Hip or knee replacement for premature osteoarthritis
Prognosis
- Normal life expectancy
- Visual loss and early arthritis drive long term morbidity
References
- Snead MP, Yates JR. Clinical and Molecular genetics of Stickler syndrome. J Med Genet. 1999, 36(5), 353-9. PubMed
- Rehm A, Newton AC, Ashby E, Linardatou Novak P, Thahir A, Clegg R, Butt J, Hatzantoni K, Ngu AWT, Kobezda T, Shehata R, Ong JCY. Stickler syndrome. Associated musculoskeletal manifestations and first population-based incidence. J Pediatr Orthop B. 2025, 34(3), 294-304. PubMed
Reviewed by Professor Phong Tran, Head of Orthopaedic Surgery, Western Health. Last updated 19 October 2026.