Deafness-lymphedema-leukemia syndrome

Title

Other Names:

Emberger syndrome; Lymphedema, primary, with myelodysplasia

Categories:

Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Blood Diseases; Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Rare Cancers; Skin Diseases See More

This disease is grouped under:

GATA2 deficiency

Summary Summary

Deafness-lymphedema-leukemia syndrome is a very rare genetic disorder characterized by swelling (lymphedema), a weak immune system (immunodeficiency), and blood disorders. Signs and symptoms may include congenital deafness, swelling of the legs and genitalia, a type of cancer known as acute myeloblastic leukemia, reduction of the blood cells (pancitopenia), scarring of the liver (cirrhosis), heart problems and cerebellar atrophy (volume loss of the cerebellum which is part of the brain). Patients may also have closely spaced eyes (hypotelorism), skin folds in the inner corner of the eyes, long tapering fingers and/or neck webbing, recurrent infections in the swelled legs, and many warts.^[1]^[2] It is caused by a mutation in the GATA2 gene and it is inherited in an autosomal dominant way. Treatment depends on the symptoms.^[2]

Last updated: 5/31/2016

Symptoms Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal neutrophil count		0011991
Acute leukemia		0002488
Bone marrow hypocellularity	Bone marrow failure	0005528
Fatigue	Tired Tiredness [ more ]	0012378
Lymphedema	Swelling caused by excess lymph fluid under skin	0001004
Neurological speech impairment	Speech disorder Speech impairment Speech impediment [ more ]	0002167
Prolonged bleeding time		0003010
Respiratory failure		0002878
Sensorineural hearing impairment		0000407
Thrombocytopenia	Low platelet count	0001873
30%-79% of people have these symptoms
Abnormality of the optic nerve	Optic nerve issue	0000587
Bruising susceptibility	Bruise easily Easy bruisability Easy bruising [ more ]	0000978
Chronic otitis media	Chronic infections of the middle ear	0000389
Fever		0001945
Hepatomegaly	Enlarged liver	0002240
Hypercoagulability		0100724
Intracranial hemorrhage	Bleeding within the skull	0002170
Migraine	Intermittent migraine headaches Migraine headache Migraine headaches [ more ]	0002076
Nausea and vomiting		0002017
Pallor		0000980
Recurrent respiratory infections	Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ]	0002205
Splenomegaly	Increased spleen size	0001744
Vertigo	Dizzy spell	0002321
Visual loss	Loss of vision Vision loss [ more ]	0000572
Weight loss		0001824
5%-29% of people have these symptoms
Epicanthus	Eye folds Prominent eye folds [ more ]	0000286
Hypotelorism	Abnormally close eyes Closely spaced eyes [ more ]	0000601
Leukocytosis	Elevated white blood count High white blood count Increased blood leukocyte number [ more ]	0001974
Lymphadenopathy	Swollen lymph nodes	0002716
Myeloproliferative disorder		0005547
Tapered finger	Tapered fingertips Tapering fingers [ more ]	0001182
Webbed neck	Neck webbing	0000465
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Cellulitis	Bacterial infection of skin Skin infection [ more ]	0100658
Leukemia		0001909
Myelodysplasia		0002863
Pancytopenia	Low blood cell count	0001876

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Last updated: 8/1/2020

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Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

News & Events News & Events

News

NIH-Supported Research Survey to Examine Impact of COVID-19 on Rare Diseases Community
May 22, 2020
NCATS Translational Approach Addresses COVID-19
May 21, 2020

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References References

Mansour S & cols. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A. September, 2010; 152A(9):2287-96. https://www.ncbi.nlm.nih.gov/pubmed/20803646.
Ostergaard P & cols. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome).. Nature Genet.. 2011; 43:929-931. https://www.ncbi.nlm.nih.gov/pubmed/21892158.

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