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Emberger syndrome

As a result of the genetics research into lymphedema, I recently learned about yet another syndrome that expresses itself with primary lymphedema. The condition is called Emberger Syndrome.

Emberger involves acute myeloid leukemia and primary lymphedema. Other complications may include immune abnormalities, and deafness. As we see in the article below it is caused by a mutation in the GATA2 gene. For information on this gene see GATA binding protein 2.

The GATA2 is associated with Familial Early-Onset Coronary Artery Disease and Myelodysplastic syndrome (MDS).


Treatment involves the treatment of leukemia and secondary treament of the lymphedema. Additional treatments of other complication may also be required.

Abstracts and Studies

Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Aug 2010

Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, Lunt P, Jeffery S, Dokal I, Vulliamy T, Gibson B, Hodgson S, Cottrell S, Kiely L, Tinworth L, Kalidas K, Mufti G, Cornish J, Keenan R, Mortimer P, Murday V; Lymphoedema Research Consortium.


SW Thames Regional Genetics Service, St. George's, University of London, London, UK.


Four reports have been published on an association between acute myeloid leukemia (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.

Wily Online

External Links

Emberger Syndrome Primary Lymphedema with Mylodysplasia OMIM Entry # 614038


Altered hematopoietic cell gene expression precedes development of therapy-related myelodysplasia/acute myeloid leukemia and identifies patients at risk. Nov 2011

Cell Press

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) Aug 2011

Nature Genetics

Endothelial transcription factor GATA-2


Myelodysplastic Syndromes

Leukemia & Lymphoma Society

The role of hematopoietic cell transplantation as therapy for myelodysplasia.

Clinical Haematology

Cancer Resources and Information:

Lymphedema People Resources

emberger_syndrome.1326812259.txt.gz · Last modified: 2012/10/16 14:01 (external edit)