Klippel-Trenaunay Syndrome is a rare congenital (present at birth) vascular disorder that affects bones, soft tissues and blood vessels. It is characterised by appearance of a red birthmark (port-wine stain), bone and vein malformations and abnormal growth of soft tissues. Klippel-Trenaunay Syndrome can also lead to complications like cellulitis (skin infection), lymphedema (swelling due to fluid accumulation) and internal bleeding (abnormal blood vessels). Klippel-Trenaunay Syndrome affects one in 40,000 children irrespective of ethnicity and gender.
The cause of Klippel-Trenaunay syndrome is unknown. However, research suggests that mutation (change) in one or more genes responsible for growth of blood vessels during embryonic development may be responsible. It is unclear as to how these malformations of blood vessels are related to soft tissue abnormalities and overgrowth of bones.
The most common symptoms of Klippel-Trenaunay syndrome are port wine stains (appearing as flat red or purple birthmarks involving blood vessels), varicose veins, and overgrowth of one limb. Other symptoms can include bleeding from affected limb and pain in the limb, blood in urine, skin infections, anaemia, seizures, rectal bleeding, and vaginal bleeding.
A complete medical history and physical examination is enough to make a diagnosis in many patients. Klippel-Trenaunay syndrome will be diagnosed if a child has all three symptoms of port wine stain, varicose veins and over growth of limbs. Your doctor may order for a Doppler ultrasound, venography or MRI scan to have a clear picture of the depth of abnormality.