Stickler syndrome refers to a group of disorders primarily affecting connective tissue.
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Epidemiology
Its incidence is 1 in 7500 live births 5.
Clinical presentation
Described features include:
Ophthalmologic
- congenital or early-onset cataract
- congenital vitreous anomaly, rhegmatogenous retinal detachment (>60%) 5
- myopia greater than -3 diopters
Craniofacial
- midface hypoplasia
- depressed nasal bridge
- anteverted nares: characteristic facies typically more pronounced in childhood
- bifid uvula
- cleft hard palate
- micrognathia
- Robin sequence: micrognathia, cleft palate, glossoptosis
Audiologic
- sensorineural or conductive hearing loss
- hypermobile middle ear systems
Skeletal
- joint hypermobility
- mild spondyloepiphyseal dysplasia
- precocious osteoarthritis
Pathology
Several gene mutations have been identified dependent on specific subtypes which include:
- Stickler syndrome type I: COL2A1
- Stickler syndrome type II: COL9A1
- Stickler syndrome type III: COL11A1
- autosomal recessive Stickler syndrome: COL11A2
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