Klippel-Trenaunay syndrome is a group of findings consisting of:
- Multiple port wine stains or other vascular nevi (dark spots of skin).
- Hypertrophy (excessive growth) of bones and soft tissue in the area of increased vascularity (may also occur in areas without increased vascularity). This occurs most commonly in the lower limbs, but may affect any limb, the face and head, or internal organs.
- Varicose veins.
- Minor or additional findings may include other abnormalities, such as webbing of the fingers (syndactyly) and extra digits (polydactyly).
- Occasionally, mental retardation and seizures.
Most cases of Klippel-Trenaunay Syndrome are sporadic. A few cases are thought to be heritable disorders possibly passed as autosomal dominant trait with low penetrance. Despite cosmetic appearance, most individuals with Klippel-Trenaunay Syndrome do well.
Klippel-Trenaunay-Weber Syndrome; Angio-osteohypertrophy; Nevus varicousus osteohypertrophicus syndrome; Hemangiectasia hypertrophicans; Nevus verucosus hypertrophicans