Stickler Syndrome

Clinical Features

Stickler syndrome is a multisystem connective tissue disorder that can include ocular findings of myopia, cataracts, and/or retinal detachment; hearing loss that is often sensorineural but can be conductive; and midface underdevelopment and cleft palate. Mild spondyloepiphyseal dysplasia and precocious arthritis may be seen. Pathogenic variants in six different genes (COL2A1, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3) have been associated with Stickler syndrome to date (Robin et al. GeneReviews. 2018; ncbi.nlm.nih.gov/books/NBK1302). Both autosomal dominant and autosomal recessive Stickler syndrome have been described. The majority (80-90%) of individuals with Stickler syndrome have Type I or "membranous" congenital vitreous anomaly (OMIM#108300), characterized by a persistence of vestigial vitreous gel in the retrolental space.

Prevention

Molecular confirmation for Stickler syndrome will improve medical management. Tracheostomy may be needed in infants with Robin sequence; mandibular advancement can correct malocclusion for those with significant micrognathia; standard treatments for hearing loss and retinal detachment; and symptomatic treatment for arthropathy are all available. Activities such as contact sports that may lead to traumatic retinal detachment and/or joint injury should generally be avoided.

Laser Photocoagulation

Patients aware of the symptoms associated with retinal detachment often avoid complications by seeking prompt evaluation and treatment when symptoms occur (Robin et al. GeneReviews. 2018; ncbi.nlm.nih.gov/books/NBK1302). Knowledge of this disease would also allow appropriate patients to undergo laser photocoagulation which has been shown to be effective in helping to prevent retinal detachment (Leiba et al. 1996. PubMed ID: 9091366).

Mitral Valve Prolapse Therapy

Because of the growing list of complications associated with mitral-valve prolapse (MVP), early detection and treatment is essential. B-blockers and renin-angiotensin-aldosterone system inhibitors appear to have beneficial effects in some patients with MVP. Angiotensin-converting enzyme inhibitor and angiotensin receptor blocker may reduce mitral regurgitation (Slipczuk L. et al. 2016. PubMed ID: 27667378).

Birth Plan

Because newborns with Stickler syndrome may have Robin sequence and airway involvement, having a birth plan that gives immediate access to tertiary specialists and neonatal care has been beneficial in managing symptoms and providing a better quality of life (Robin et al. GeneReviews. 2018; ncbi.nlm.nih.gov/books/NBK1302).

For more information on Stickler syndrome testing, please see our full Test Description.


Disclaimer

This article is a summary of information that has been reported in the biomedical research literature. It is not medical advice for patients. All disease treatments should be under the direction of a qualified healthcare provider.

Last Updated: 5/3/2018