Parkes Weber Syndrome | Symptoms and Causes

What are the symptoms of Parkes Weber syndrome?

Parkes Weber syndrome (PWS) affects different children in different ways. One child may have a mild form with a small capillary malformation and one hand or foot slightly larger than the other. Another child may have a capillary malformation that runs from her chest down her leg, lots of swelling, heart problems and one limb that is much larger than the other.

Some possible symptoms of PWS include:

  • a flat, pink, warm birthmark called a port-wine stain, caused by a capillary malformation on your child’s skin
  • frequent or recurrent bleeding, from abnormal capillaries near the surface of the skin
  • cellulitis (infections in the skin)
  • hypertrophy — swelling and overgrowth — of a limb (usually a leg)
  • pain — often severe — in the affected limb
  • heart problems from increased blood flow through an arteriovenous malformation

What causes Parkes Weber syndrome?

In many patients, PWS is caused by a mutation in a gene called RASA1. This mutation can run in families. A patient with PWS can pass this mutation on to his or her children. However, not every patient with PWS has a RASA1 mutation.

No known food, medication or activity during pregnancy can cause PWS.