Parkes Weber Syndrome

What is Parkes Weber syndrome?

Parkes Weber syndrome is a rare condition in which a child has many abnormal blood vessels. It is a congenital condition, meaning a baby is born with it.

Children with Parkes Weber syndrome have capillary malformations (port wine stains) and arteriovenous fistulas (AVFs), which are abnormal connections between the arteries and veins. AVFs can lead to abnormal bleeding and heart failure. Many children with Parkes Weber syndrome also have one limb that is larger than the other, most often a leg.

What are the signs and symptoms of Parkes Weber syndrome?

The symptoms of Parkes Weber syndrome can vary from one child to another. Some common symptoms in children include:

• A port-wine stain, a birthmark caused by a capillary malformation on the skin
• Skin infections (cellulitis)
• Overgrowth of a limb (hypertrophy), most often a leg
• Pain in the overgrown limb
• Bleeding from abnormal capillaries near the surface of the skin
• Chest pain or heart problems from an arteriovenous malformation

What causes Parkes Weber syndrome?

Parkes Weber syndrome is often caused by a mutation in a gene called RASA1 and can run in families. But not every child with Parkes Weber syndrome has this mutation. When Parkes Weber syndrome is caused by a mutation in the RASA1 gene, the child usually has multiple capillary malformations. In children who do not have multiple capillary malformations, the cause of the syndrome is not known.

How is Parkes Weber syndrome treated?

There is no cure for Parkes Weber syndrome, so treatment is based on caring for symptoms. Your care team at Arkansas Children's is experienced in treating Parkes Weber syndrome and will work with you to create the best treatment plan for your child. Treatment options may include:

• Medicines to help control pain or fight infections
• Compression garments, which are tight-fitting pieces of clothing that can help reduce swelling and pain in the affected limb
• Debulking surgery to remove abnormal blood vessels and excess tissue
• Some children may need orthopedic surgery if one foot is too large or one leg is longer than the other