Klippel-Trenaunay-Weber Syndrome (cont.)

Medical Author:

David Perlstein, MD, MBA, FAAP

David Perlstein, MD, MBA, FAAP

Dr. Perlstein received his Medical Degree from the University of Cincinnati and then completed his internship and residency in pediatrics at The New York Hospital, Cornell medical Center in New York City. After serving an additional year as Chief Pediatric Resident, he worked as a private practitioner and then was appointed Director of Ambulatory Pediatrics at St. Barnabas Hospital in the Bronx.

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Medical Editor:

William C. Shiel Jr., MD, FACP, FACR

William C. Shiel Jr., MD, FACP, FACR

Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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In this Article

• What is Klippel-Trènaunay-Weber (KTW) syndrome?
• What is a port-wine stain?
• What is asymmetrical limb hypertrophy?
• Are there other abnormalities in Klippel-Trènaunay-Weber syndrome?
• How is intelligence affected?
• What is the basic defect in Klippel-Trènaunay-Weber syndrome?
• What causes Klippel-Trènaunay-Weber syndrome?
• What is the prognosis (outlook) with Klippel-Trènaunay-Weber syndrome?
• Why is it called Klippel-Trènaunay-Weber syndrome?
• Alternative names for Klippel-Trènaunay-Weber (KTW) syndrome
• Klippel-Trenaunay-Weber Syndrome Index

Although the triad of "port-wine stain, varicosities, and asymmetric limb hypertrophy," is the consistent clinical centerpiece of Klippel-Trènaunay-Weber, there are often other less frequent abnormalities found in those affected by the syndrome. These may include other limb or digit abnormalities such as:

• atrophy (a limb that is underdeveloped),
  
  
• fingers and toes that are disproportionately large or small,
  
  
• digits that are webbed (syndactyly),
  
  
• too many digits (polydactyly), or
  
  
• too few digits (oligodactyly).

In addition to limb abnormalities, there are some other common features, including:

• asymmetrical facial hypertrophy (one side of the face may be smaller than the other),
  
  
• macrocephaly (a large head), or
  
  
• microcephaly (a small head).

Eye problems may include glaucoma and cataracts. Finally, any of the vascular anomalies can affect the internal organs including the intestinal and urinary tract systems. These may be at risk for spontaneous bleeding, and it is important to evaluate any individual with evidence of superficial abdominal lesions.