Which syndromes and genetic disorders are associated with primary lymphedema?

Updated: Mar 24, 2021
  • Author: Robert A Schwartz, MD, MPH; Chief Editor: William D James, MD  more...
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Moreover, it is more common is for primary lymphedema to be associated with other anomalies and genetic disorders, including the following:

  • Yellow nail syndrome

  • Turner syndrome

  • Noonan syndrome

  • Xanthomatosis [50]

  • Hemangiomas

  • Neurofibromatosis type 1

  • Klinefelter syndrome

  • Congenital absence of nails

  • Trisomy 21

  • Trisomy 13

  • Trisomy 18

  • Distichiasis lymphedema syndrome [51, 52]

The last item above, distichiasis lymphedema syndrome, is a rare inherited disorder characterized by the presence of extra eyelashes (distichiasis) and swelling of the arms and legs (lymphedema). Swelling of the legs, especially below the knees, and eye irritation are common in people with this disorder. Spinal cysts (epidural), with or without other abnormalities of the spinal column, can accompany distichiasis lymphedema. This syndrome is inherited as an autosomal dominant genetic trait due to a mutation of the FOX2 gene. [22]

In congenital lymphedema, usually several other family members have a history of the disease.

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