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| stickler_syndrome [2026/02/02 19:22] – created Scott Larson | stickler_syndrome [2026/02/02 19:37] (current) – Scott Larson | ||
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| ====== Stickler Syndrome ====== | ====== Stickler Syndrome ====== | ||
| - | FIXME | + | ====Main Features==== |
| + | * Connective tissue disorder with ocular, craniofacial, | ||
| + | ====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- " | ||
| + | * 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, | ||
| + | * 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' | ||
| + | * 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:// | ||
| + | * [[https:// | ||
| + | {{tag> | ||