What is Stickler Syndrome ?
Stickler syndrome is a congenital disorder that occurs as a result of genetic mutations during fetal development. It affects the connective tissues of the bones, ears and eyes. People afflicted by this syndrome suffer from skeletal abnormalities, cleft palate, small jaw, flat face and vision problems. The syndrome is also known as arthro-opthalmology.
The condition was named after Dr. G.B. Stickler who identified the syndrome in 1965. Stickler syndrome affects around 1 out of 10,000 births. The treatment for the condition is aimed at helping the patient manage the symptoms as well as prevent complications from happening.
What causes Stickler syndrome?
Stickler syndrome occurs as a result of mutations in the genes responsible for the creation of collagen proteins which are found in the connective tissues whose role is to support the internal structures of the body. The kinds of collagen largely affected by the syndrome are those that are involved in the formation of cartilage and vitreous.
It only requires one parent to have the defective gene to be able to pass the syndrome to the children. The autosomal inheritance pattern of Stickler syndrome is favorable for early detection if the symptoms are not evident at birth.
Stickler syndrome complications
Stickler syndrome could lead to several complications, including breathing and feeding difficulties, ear infections, heart problems, blindness, deafness and dental problems. Diagnosis is done by physical examination and checking the medical history of the child. The doctor may also conduct additional diagnostic tests to figure out the severity of the condition to be able to design the appropriate treatment plan.
Although the ultimate cure is not yet available, there are treatment methods that help patients manage the accompanying symptoms, allowing them to function at par with normal people. Stickler syndrome treatment may involve:
These quite vary depending on the needs of the patient, from taking non-steroidal anti-inflammatory drugs and naproxen to glaucoma drugs.
This may come in the form of physical and speech therapy as well as special education.
- Sensory aids
These are in the form of hearing aids and corrective lenses.
Some surgical procedures required include cleft palate repair, eye surgery, jaw surgery, joint replacement, tracehostomy or ear tubes.
Stickler Syndrome Pictures