Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare autosomal dominant disorder characterized by lower limb lymphedema of childhood onset and hematological abnormalities. Hearing loss is present in more than 75% of the patients. It has been reported that mutations in GATA2 cause this syndrome. GATA2 is a transcription factor that plays an essential role in gene regulation during vascular development and hematopoietic differentiation.
