Definition

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.

How common is Multiple pterygium syndrome?

Multiple pterygium syndrome is extremely uncommon. The prevalence of Multiple pterygium syndrome is unknown. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Multiple pterygium syndrome?

The common symptoms of Multiple pterygium syndrome are:

  • Permanently bent fingers (camptodactyly)
  • Abnormally short stature
  • Joint contractures of multiple joints
  • Clubbed feet
  • 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.
  • Abnormally small jaw
  • Epicanthal folds in the eyes
  • Ptosis of the eyes
  • Kyphoscoliosis
  • Other spinal cord abnormalities
  • Frequent hip dislocations
  • Malformed patella

Males with Multiple pterygium syndrome tend to have undescended testicles and females have underdeveloped labia majora as a result of Multiple pterygium syndrome.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Multiple pterygium syndrome?

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.

Risk factors

What increases my risk for Multiple pterygium syndrome?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Multiple pterygium syndrome diagnosed?

Multiple pterygium syndrome is diagnosed based on signs and symptoms.

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. Plastic surgery is the most preferred route for treatment of webbing. 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.

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, a consultation with an audiologist is recommended.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Multiple pterygium syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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