What is Multiple Pterygium Syndrome?
Multiple Pterygium Syndrome is an extremely rare genetic condition in which the affected individual has an abnormally short stature along with vertebral abnormalities, joint contractures, and webbing of the neck, fingers, and back of the knees.
The main cause for Multiple Pterygium Syndrome has not yet been identified but researchers believe it to be caused by a gene defect which follows an autosomal recessive pattern of inheritance meaning that one copy of the faulty gene from each parent is required for an individual to develop Multiple Pterygium Syndrome.
Research is still ongoing with regard to the exact gene responsible for the development of Multiple Pterygium Syndrome.
What are the Causes of Multiple Pterygium Syndrome?
As stated, Multiple Pterygium Syndrome is caused by a gene defect. The exact gene responsible for the development of this condition has still not been found but it is believed to follow an autosomal recessive pattern of inheritance meaning that one copy of the faulty gene is required from each parent for an individual to develop Multiple Pterygium Syndrome. In some cases, an autosomal dominant pattern of inheritance has also been seen in individuals with Multiple Pterygium Syndrome but such cases are rare.
What are the Symptoms of Multiple Pterygium Syndrome?
The primary presenting features of Multiple Pterygium Syndrome is the presence of permanently bent fingers, a condition called as camptodactyly. Additionally, the affected individual will have an abnormally short stature, joint contractures of multiple joints, clubbed feet.
The main presenting feature of Multiple Pterygium Syndrome is the presence of webbing of the skin of the fingers, neck, inside half of the elbows, behind the knees, and also the underarms. As a result of the webbing of the skin along with the joint contractures the affected individual will have difficulty with movements of the affected area.
Additionally, individuals with Multiple Pterygium Syndrome also exhibit an abnormally small jaw, epicanthal folds in the eyes, and ptosis of the eyes. Kyphoscoliosis and other spinal cord abnormalities are also something that is seen in individuals with Multiple Pterygium Syndrome.
Individuals with Multiple Pterygium Syndrome also are prone to frequent hip dislocations and tend to have a malformed patella as a result of Multiple Pterygium Syndrome.
Males with Multiple Pterygium Syndrome tend to have undescended testicles and females have underdeveloped labia majora as a result of Multiple Pterygium Syndrome.
How is Multiple Pterygium Syndrome Treated?
The treatment for Multiple Pterygium Syndrome is basically symptomatic and supportive depending on the extent and severity of the symptoms. Surgery may be required to correct some of the spinal cord abnormalities and webbing of the skin, especially on the fingers and neck as this is where the webbing may restrict movements.
Surgery may also be recommended to treat scoliosis which is apparent in people with Multiple Pterygium Syndrome. Plastic surgery is the most preferred route for treatment of webbing present as a result of Multiple Pterygium Syndrome.
The surgical procedures done to correct the webbing caused by Multiple Pterygium Syndrome is extremely complex as there are multiple nerves and vessels surrounding the webbing and the surgeon needs to take utmost care when performing the surgery in order to avoid injuring any of the neurovascular structures.
For joint contractures, aggressive physical therapy is of great benefit and help in preventing the joints from becoming permanently fixed which may restrict the movements of the joints severely as a result of Multiple Pterygium Syndrome.
For the ocular abnormalities seen in the form of ptosis and epicanthal folds, an ophthalmologist needs to be consulted for appropriate treatment. For cases of hearing deficits which are also a part of Multiple Pterygium Syndrome a consultation with an audiologist is recommended who can formulate a treatment plan for adequate treatment of the abnormality caused by Multiple Pterygium Syndrome.