Show pageOld revisionsBacklinksBack to top This page is read only. You can view the source, but not change it. Ask your administrator if you think this is wrong. ====== Stickler Syndrome ====== ====Main Features==== * Connective tissue disorder with ocular, craniofacial, auditory and skeletal manifestation ====Eye Findings==== * High myopia (< -3 D) * Vitreous * Type 1- membranous with persistent vestigial gel in the retrolental spaces bordered by a folded membrane * Type 2- "beaded" vitreous with sparce irregularly thickened bundles * Retinal detachment 45-60% * Prophylactic laser retinopexy * Foveal hypoplasia 82% * Cataracts 35-60% * Glaucoma 10% * Congenital megalophthalmos ====Other Findings==== * Craniofacial * midface retrusion with underdeveloped maxilla and nasal bridge * Micrognathia * Cleft palate * Pierre Robin sequence (micrognathia, glossoptosis, cleft palate) 25% * Hearing loss 50-60% * sensineural * conductive from recurrent ear infections and/or ossicular defects * Mixed * COL11A1- moderate to severe hearing loss in all frequencies * COL2A1- milder high-frequency loss. * Skeletal * Joint hypermobility in childhood * Early-onset osteoarthritis (age 30-40's) * Sponidyloepiphyseal dysplasia * scoliosis * kyphos * platyspondyly ====Etiology==== * Mutation of collagen genes * COL2A1 and COL11A1 * COL2A1, COL11A1, or COL11A2 or biallelic pathogenic variants in COL9A1, COL9A2, or COL9A3 ====Resources==== * [[https://www.ncbi.nlm.nih.gov/books/NBK1302/|Stickler Syndrome in GeneReviews]] * [[https://pubmed.ncbi.nlm.nih.gov/28283280/|Foveal Hypoplasia in Patients with Stickler Syndrome. Matsushita I, et al. Ophthalmology. 2017;124(6):896-902]] {{tag>syndrome}} syndrome