Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases

Am J Med Genet A. 2010 Sep;152A(9):2287-96. doi: 10.1002/ajmg.a.33445.


Four reports have been published on an association between acute myeloid leukaemia (AML) and primary lymphedema, with or without congenital deafness. We report seven new cases, including one extended family, confirming this entity as a genetic syndrome. The lymphedema typically presents in one or both lower limbs, before the hematological abnormalities, with onset between infancy and puberty and frequently affecting the genitalia. The AML is often preceded by pancytopenia or myelodysplasia with a high incidence of monosomy 7 in the bone marrow (five propositi and two relatives). Associated anomalies included hypotelorism, epicanthic folds, long tapering fingers and/or neck webbing (four patients), recurrent cellulitis in the affected limb (four patients), generalized warts (two patients), and congenital, high frequency sensorineural deafness (one patient). Children with lower limb and genital lymphedema should be screened for hematological abnormalities and immunodeficiency.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple
  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 7
  • Female
  • Genitalia / abnormalities
  • Humans
  • Infant
  • Infant, Newborn
  • Leukemia, Myeloid, Acute / complications
  • Leukemia, Myeloid, Acute / genetics
  • Lower Extremity Deformities, Congenital
  • Lymphedema / complications*
  • Lymphedema / genetics
  • Male
  • Monosomy
  • Myelodysplastic Syndromes / complications*
  • Myelodysplastic Syndromes / genetics
  • Young Adult