Stickler syndrome refers to a group of disorders primarily affecting connective tissue.
Its incidence is 1 in 7500 live births 5.
Described features include:
- congenital or early-onset cataract
- congenital vitreous anomaly, rhegmatogenous retinal detachment (>60%) 5
- myopia greater than -3 diopters
- midface hypoplasia
- depressed nasal bridge
- anteverted nares: characteristic facies typically more pronounced in childhood
- bifid uvula
- cleft hard palate
- Robin sequence: micrognathia, cleft palate, glossoptosis
Several gene mutations have been identified dependent on specific subtypes which include:
- 1. Milunsky A, Milunsky J. Genetic Disorders and the Fetus, Diagnosis, Prevention and Treatment. Wiley-Blackwell. (2010) ISBN:1405190876. Read it at Google Books - Find it at Amazon
- 2. Gerth-kahlert C, Grisanti S, Berger E et-al. Bilateral vitreous hemorrhage in a newborn with Stickler syndrome associated with a novel COL2A1 mutation. J AAPOS. 2011;15 (3): 311-3. doi:10.1016/j.jaapos.2011.03.008 - Pubmed citation
- 3. Temple IK. Stickler's syndrome. J. Med. Genet. 1989;26 (2): 119-26. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 4. Niffenegger JH, Topping TM, Mukai S. Stickler's syndrome. Int Ophthalmol Clin. 1993;33 (2): 271-80. - Pubmed citation
- 5. Zhang Z. Zhang S. Giant retinal tear in Stickler syndrome. BMJ 2021;372:n140.