Stickler Syndrome Definition, Reason, Symptoms, Treatment & Prevention
Definition
Stickler syndrome is a genetic disorder that causes vision, hearing and joint health problems. Also known as hereditary progressive arthro ophthalmopathy, Stickler syndrome is usually diagnosed in infancy or childhood.
Children with Stickler syndrome often have a distinctive facial appearance, with prominent eyes and a small nose and chin. Generally, children with this condition are also born with a cleft in the palate.
Although this condition cannot be completely cured, treatment can be done to control symptoms and prevent complications. In some cases, surgery may be needed to correct the physical abnormalities that occur as a result of Stickler’s syndrome.
Stickler Syndrome Symptoms
Signs and symptoms of Stickler syndrome, as well as the degree of severity, can vary among individuals who have it. Some of the signs and symptoms commonly encountered are:
- Abnormalities in the eye. In addition to very severe nearsightedness, children with Stickler syndrome can also experience cataracts, glaucoma, and abnormalities in the retina.
- Hearing disorders. The degree of hearing loss can vary between individuals with Stickler syndrome. This condition generally affects the ability to hear high-frequency sounds.
- Abnormalities of bones and joints. Children with Stickler syndrome often have very flexible joints, and have a tendency to develop curvature deformities, such as scoliosis. Adolescents with Stickler syndrome also have the possibility of developing osteoarthritis.
Stickler Syndrome Reason
Stickler syndrome is caused by mutations in certain genes related to the formation of collagen in the body. Collagen is one of the building blocks of various types of connective tissue.
The type of collagen most frequently involved is the collagen used for the formation of cartilage in joints and the vitreous of the eye.
Diagnosis
Stickler syndrome is generally diagnosed based on the results of medical interviews, direct physical examinations, and certain supporting examinations.
Some of the supporting examinations that can be carried out to determine the degree of severity of the disease and help make decisions to determine treatment are:
- Imaging examination. X-ray examination can be done to see any abnormalities or damage to the joints and spine.
- Eye exam. An eye exam can help your doctor detect problems with the vitreous or retina of the eye, which is essential for vision. An eye exam may also be performed to evaluate for the presence of cataracts or glaucoma.
- Hearing check. Hearing tests may be performed to measure the ability to distinguish the pitch and volume of sounds.
Genetic testing can also be done to help make a diagnosis in some cases. In addition, genetic examination can also help determine the risk of passing on the mutated gene to the next offspring.
Stickler Syndrome Treatment
Treatment of Stickler syndrome is aimed at controlling the signs and symptoms of the condition. Handling can be in the form of therapy or surgery.
Some types of therapy that can be done are:
- speech therapy. Children can undergo speech therapy if their hearing loss affects their ability to say certain words or sounds.
- Physical therapy. In some cases, physical therapy can help with impaired mobility associated with pain and stiffness in the joints. The use of assistive devices may also be required.
- Hearing aids. In children with hearing loss, the use of hearing aids can improve the quality of life.
- Special education. Hearing and visual impairments can cause learning difficulties in school, and special education can be beneficial for children.
Several types of actions that can be performed are jaw surgery, palate surgery, joint replacement, eye surgery, and ear surgery, according to indications and needs.
Prevention
Because Stickler syndrome is caused by certain genetic mutations, there isn’t yet a completely effective way to prevent someone from developing the condition.