Living with Deafness-lymphedema-leukemia syndrome
A very rare genetic condition with swelling from lymph fluid, a weak immune system, hearing loss, and blood disorders.
Understanding Deafness-lymphedema-leukemia syndrome
Signs may include deafness from birth, swelling of the legs and genitals, and a blood cancer called acute myeloid leukemia. Low blood cell counts, liver scarring, heart problems, and cerebellar atrophy (volume loss in part of the brain) can also occur. Some people have recurrent infections in swollen legs and many warts.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Swelling from lymph fluid (lymphedema)
- Acute myeloid leukemia
- Myelodysplasia (abnormal blood-forming cells)
- Warts
- Long, tapering fingers
- Closely spaced eyes
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
A change in the GATA2 gene causes this condition. It is autosomal dominant, so a changed copy of the gene from one parent can be enough.
Also known as: deafness - lymphedema - leukemia syndrome; emberger syndrome; lymphedema, primary, with myelodysplasia
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Deafness-lymphedema-leukemia syndrome.
Explore research for Deafness-lymphedema-leukemia syndrome
Explore actively recruiting Deafness-lymphedema-leukemia syndrome studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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