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Q.

Are there other abnormalities in Klippel-Trenaunay-Weber syndrome?

Related Topics: Klippel Trenaunay Weber Syndrome
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A.

Although the triad of port-wine stain, varicosities, and asymmetric limb hypertrophy is the consistent clinical centerpiece of Klippel-Trenaunay-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).
  • 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).
  • 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.

This answer should not be considered medical advice...down arrowThis answer should not be considered medical advice and should not take the place of a doctor’s visit. Please see the bottom of the page for more information or visit our Terms and Conditions.up arrow

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