Disease: Stickler syndrome

Overview

Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood.

Children who have Stickler syndrome often have distinctive facial features — prominent eyes, a small nose with a scooped out facial appearance and a receding chin. They are often born with an opening in the roof of the mouth (cleft palate).

While there is no cure for Stickler syndrome, treatments can help control symptoms and prevent complications. In some cases, surgery may be needed to correct some of the physical abnormalities associated with Stickler syndrome.

Source: http://www.mayoclinic.com

Symptoms

The signs and symptoms of Stickler syndrome — and the severity of those signs and symptoms — can vary widely from person to person.

  • Eye problems. In addition to severe nearsightedness, children who have Stickler syndrome often experience cataracts, glaucoma and retinal detachments.
  • Hearing difficulties. The extent of hearing loss varies among people who have Stickler syndrome. It usually affects the ability to hear high frequencies.
  • Bone and joint abnormalities. Children who have Stickler syndrome often have overly flexible joints and are more likely to develop abnormal curvatures of the spine, such as scoliosis. Osteoarthritis can begin in adolescence.

When to see a doctor

Regular follow-up visits, as well as yearly visits to doctors specializing in eye disorders, are crucial to monitor any progression of symptoms. Early treatment can help prevent life-altering complications. Hearing should be checked every six months in children through age 5 and then yearly thereafter.

Source: http://www.mayoclinic.com

Causes

Stickler syndrome is caused by mutations in certain genes involved in the formation of collagen — one of the building blocks of many types of connective tissues. The type of collagen most commonly affected is that used to produce joint cartilage and the vitreous jelly found within the eyes.

Source: http://www.mayoclinic.com

Diagnosis

While Stickler syndrome can sometimes be diagnosed based on your child's medical history and a physical exam, additional tests are needed to determine the severity of the symptoms and help direct treatment decisions. These may include:

  • Imaging tests. X-rays can reveal abnormalities or damage in the joints and spine.
  • Eye exams. These exams can help your doctor detect problems with the jellylike material (vitreous) that fills the eye or with the lining of the eye (retina), which is crucial for sight. Eye exams also can check for cataracts and glaucoma.
  • Hearing tests. These tests measure the ability to detect different pitches and volumes of sound.

Genetic testing is available to assist in diagnosis in some cases. Genetic testing can also be used to help in family planning and to determine your risk of passing on the gene to your children when the hereditary pattern is not clear from the family history. Genetic counseling should be provided for affected people.

Source: http://www.mayoclinic.com

Complications

Potential complications of Stickler syndrome include:

  • Difficulty breathing or feeding. Breathing or feeding difficulties may occur in babies born with an opening in the roof of the mouth (cleft palate), a small lower jaw and a tendency for the tongue to drop back toward the throat.
  • Blindness. Blindness can occur if retinal detachments aren't repaired promptly.
  • Ear infections. Children with facial structure abnormalities associated with Stickler syndrome are more likely to develop ear infections than are children with normal facial features.
  • Deafness. Hearing loss may worsen with time and a small percentage of people with Stickler syndrome eventually become completely deaf.
  • Heart problems. Some people with Stickler syndrome may be at higher risk of heart valve problems.
  • Dental problems. Most children who have Stickler syndrome have abnormally small jaws, so there often isn't enough room for the full complement of adult teeth. Braces or, in some cases, dental surgeries may be necessary.

Source: http://www.mayoclinic.com

Lifestyle and home remedies

  • Pain relievers. Over-the-counter drugs such as ibuprofen (Advil, Motrin IB) and naproxen sodium (Aleve) may help relieve joint swelling, stiffness and pain.
  • Avoid contact sports. Strenuous physical activity may stress the joints, and contact sports, such as football, may increase the risk of retinal detachment.
  • Seek educational help. Your child may have difficulty in school due to problems hearing or seeing. Your child's teachers need to be aware of his or her special needs.

Source: http://www.mayoclinic.com

Risk factors

Your child is more likely to be born with Stickler syndrome if either you or your partner has the disorder.

Source: http://www.mayoclinic.com

Define Common Diseases

Welcome to WebHealthNetwork, here you can find information, definitaions and treatement options for most common diseases, sicknesses, illnesses and medical conditions. Find what diseases you have quick and now.