Stickler Syndrome

Clinical Features

Stickler syndrome is a multisystem connective tissue disorder that can include ocular findings of myopia, cataracts, and retinal detachment; hearing loss that is both conductive and sensorineural; midfacial underdevelopment and cleft palate (either alone or as part of the Robin sequence); and mild spondyloepiphyseal dysplasia and/or precocious arthritis (Robin et al., GeneReviews. 2011; ncbi.nlm.nih.gov/books/NBK1302). At present, at least three types of autosomal dominant and one type of 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.

Laser Photocoagulation

Patients aware of the symptoms associated with renal detachment often avoid complications by seeking prompt evaluation and treatment when symptoms occur (Robin et al., GeneReviews. 2011; ncbi.nlm.nih.gov/books/NBK1302). Knowledge of this disease would also allow patients to undergo laser photocoagulation which has been proven to be significantly effective in helping to prevent retinal detachment in many patients (Leiba et al., Eye. 1996; 10: 701-708).

Mitral Valve Prolapse Therapy

Because of the growing list of complications associated with mitral-valve prolapse, early detection and treatment is essential. Propranolol has been used to treat arrhythmias and also decreases the risk of serious complications such as stroke and heart failure (Hayek et al., The Lancet. 2005; 365(9458): 5-11). Due to mitral valve weakness along with joint pain associated with Stickler Syndrome, patients should avoid contact sports to prevent further complications (Popkin and Polomeno, Canadian Medical Association Journal. 1974: 111(10): 1071-1076).

Birth Plan

Because of the severity associated with the symptoms of Stickler Syndrome, if concerns of Robin sequence and airway involvement are suspected, 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. 2011; ncbi.nlm.nih.gov/books/NBK1302).

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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: 4/10/2017