Stickler syndrome is one of a few related genetic conditions that affect the vision, hearing, and joint mobility of the patient. It’s closely related to Marfan syndrome and is also called hereditary progressive arthro-opthalmopathy.
Since it develops during fetal formation, it’s usually discovered during infancy. Some children grow almost into adolescence before the condition is noticed by a doctor or a parent.
Each person experiences a different mix of signs and symptoms based on the genetic mutation they’re born with. Signs and symptoms may include:
The most common cause of stickler syndrome is genetics; one or both parents are the carriers of this abnormality. It takes one parent to pass the dominant pattern of this inheritance on to the next generation. Recessive patterns need both parents to contribute the mutated gene.
The risks increase for children with several generational incidents of this disorder. The degree of mutated genes contributing to the formation of collagen is near impossible to predict. Type I is the most frequent form of stickler syndrome, affecting the collagen used to produce joint cartilage and the gel substance around the eye.
New forms of mutation may not be present at birth, but appear as the child develops and matures. Sometimes, parents exposed to a variety of environmental toxicants or abnormal nutrition can promote the development of a newly mutated gene with the ability to pass it on to an offspring. In other cases, the conditions happen randomly.
The condition itself is not curable, so each treatment plan is customized to handle the specific challenges a patient faces. For example, breathing problems are usually addressed with sinus and jaw surgery, sleep apnea masks, or the insertion of tubal airway stents.
Infants and children with feeding issues may need a feeding tube or a special diet so they can gain weight and grow at a normal rate. Surgeries can solve cleft palates and other bone-related deformities. If the problem includes weakened heart valves, an eventual heart transplant may be necessary to extend the life of the patient.
There is no cure or prevention for stickler syndrome, but treatment is available to manage and repair the missing connective tissues. Recommendations for genetic screening of parents with a history of the syndrome are critical. Schedule an appointment to talk with your doctor and get as much information about the risks associated with the disease and the different types of stickler syndrome.
Early diagnosis is the best inhibitor to preventing serious complications. Therapies range from speech, physical, hearing, vision and special education. Medications help ease the joint pain and stiffness, along with prescription eye drops to relieve the pressure inside of the eye.
Corrective facial surgeries restructure and repair the physical abnormalities to the lower jaw and cleft palates. Tracheostomies are necessary to help younger children breathe; it’s removed when the airways are no longer blocked.