Klippel-Trenaunay-Weber Syndrome (cont.)
What is asymmetrical limb hypertrophy?
Asymmetric limb hypertrophy is enlargement of one limb compared to the
opposite side. For example, an individual with Klippel-Trènaunay-Weber syndrome may have a left leg
or arm that is larger than his/her right leg or arm. This asymmetry is found in
other inherited syndromes as well. Most commonly in individuals with
Klippel-Trènaunay-Weber, the
leg is involved more frequently than an arm; however, on occasion there is
enlargement of two limbs, a buttock, or part of the trunk of the body.
Are there other abnormalities in Klippel-Trènaunay-Weber
syndrome?
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.
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