Ptergyium Syndrome

Also known as: multiple ptergyium syndrome, popliteal ptergyium syndrome.

What is ptergyium syndrome?

Ptergyium syndrome is a genetic condition characterized by webs of skin across the knee joints and other joints of the body, such as the fingers and toes. One form of the disease, multiple ptergyium syndrome, is characterized by a lack of muscle movement that causes joint and mobility problems as a person ages. Another form of the disease, popliteal ptergyium syndrome, may have associated abnormalities such as cleft lip, cleft palate and other issues related to the skin, face or genitals.

What causes ptergyium syndrome?

Ptergyium syndrome is a genetic disorder that can be passed along from parents to their children.

What are the symptoms of ptergyium syndrome?

Symptoms of ptergyium syndrome will vary based on which type of disorder is present. Both forms of ptergyium syndrome can cause webs of skin on the body’s joints, limited mobility and folds of skin on the face or elsewhere on the body. Other possible symptoms of ptergyium syndrome include cleft lip, cleft palate, a curved spine (scoliosis), lack of muscle movement, muscle weakness, undescended testes and many other symptoms. Some forms of ptergyium syndrome can be life-threatening.  

What are ptergyium syndrome care options?

There is no cure for ptergyium syndrome. Care is focused on minimizing the symptoms of the disease and helping individuals live the best life possible. This may include surgery to remove webbing or correct the spine, as well as physical therapy and bracing to help with muscle movement and muscle weakness.


Reviewed by: Scott J Schoenleber, MD

This page was last updated on: 7/30/2018 9:53:48 AM

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Lucky started going to physical therapy when he was two because of the delays with sitting up and rolling over. His physical therapist noticed that the problem was not muscular but skeletal, a condition that she couldn't treat. The pediatrician told Janie and Greg, Lucky’s parents, about Nicklaus Children's Hospital. When Janie and Greg visited Nicklaus Children’s Hospital, they met Dr. Harry L Shufflebarger, Pediatric Spinal Surgery Director. He performed the necessary surgeries and now Lucky can enjoy a healthy life.