Mayo Clinic Health Manager
Get free personalized health guidance for you and your family.
Get Started
About our e-newsletters
- Free e-newsletters
- Mayo Clinic expertise
- We do not share your e-mail address
Housecall, our weekly general-interest e-newsletter, keeps you up to date on a wide variety of health topics with timely, reliable, practical information, recipes, blogs, questions and answers with Mayo Clinic experts and more. Our biweekly topic-specific e-newsletters also include blogs, questions and answers with Mayo Clinic experts, and other useful information that will help you manage your health.
Housecall Archives
Mayo Clinic Housecall
Stay up to date on the latest health information.
What you get
- Free weekly e-newsletter
- Mayo Clinic expertise
- Recipes, tools and other helpful information
- We do not share your e-mail address
Tests and diagnosis
By Mayo Clinic staffYour doctor may suspect Stickler syndrome based on a combination of the following signs and symptoms:
- Eye abnormalities at birth. Eye examinations help detect eye problems that are often present at birth in children with Stickler syndrome. These include a clouding of the normally clear lens of your eye (cataracts) or a defect in the jelly-like material (vitreous) filling your eye. Severe nearsightedness may be observed in older children who take vision tests.
- Impaired hearing. Your doctor may use a test called an audiogram — which measures your ability to detect different pitches and volumes of sound — to determine whether your child has experienced hearing loss.
- Altered facial features. During a physical exam, your doctor examines your child's face for features specific to Stickler syndrome — a flattened facial structure, a small nose, and a slight or absent nasal bridge. Some children also have a series of facial abnormalities that include an opening in the roof of the mouth (cleft palate), a large tongue and a small lower jaw.
- Excessive joint flexibility. Your doctor may stretch your child's arms and legs to determine the extent of his or her flexibility. If your child has Stickler syndrome, he or she may be able to extend the arms and legs beyond the range of motion that is comfortable for most people.
- Mitral valve prolapse. Mitral valve prolapse, a disorder in which one of your heart valves doesn't close properly, has been reported in people with Stickler syndrome. Your doctor may detect this condition while listening to your child's heart with a stethoscope.
Molecular genetic testing may be used to identify the mutant genes associated with Stickler syndrome, but it's not commonly used to diagnose this disorder. However, it's occasionally used to confirm a suspected diagnosis or for prenatal diagnosis.
- Stickler syndrome. Genetics Home Reference. http://www.ghr.nlm.nih.gov/condition=sticklersyndrome. Accessed Sept. 4, 2008.
- Stickler GB [expert opinion]. Mayo Clinic, Rochester, Minn. March 28, 2008.
- About Stickler syndrome. Stickler Syndrome Support Group. www.stickler.org.uk/info.htm. Accessed Sept. 4, 2008.
- Francomano C, et al. Stickler syndrome. In: Cassidy SB, et al. Management of Genetic Syndromes. 2nd ed. Hoboken, N.J.: Wiley-Liss; 2005;539-546.
