Deafness-lymphedema-leukemia syndrome

MONDO:0013540

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

Also known as: Emberger syndrome, deafness-lymphedema-leukemia syndrome, lymphedema, primary, with myelodysplasia

2 clinical trials for this condition and its sub-types, 1 tagged with Deafness-lymphedema-leukemia syndrome itself.

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↑ Hematologic disorder (8525) ↑ Syndromic disease (7158) ↑ Lymphatic malformation (56) ↑ GATA2 deficiency with susceptibility to MDS/AML (8)

Including sub-types (2) Tagged with Deafness-lymphedema-leukemia syndrome (1)

Trials to join now! 1

Hunt for hidden cancer genes: families needed to unlock hereditary secrets

Knowledge-focused Recruiting now

This study aims to discover new genes that may cause certain cancers to run in families. Researchers will collect blood samples and health information from 1,500 people in families where multiple members have had cancer, especially childhood cancers. The goal is to build a regist…

Sponsor: St. Jude Children's Research Hospital • Aim: Knowledge-focused

Last updated Jun 27, 2026 14:00 UTC

Deafness-lymphedema-leukemia syndrome

Where it sits in the disease tree

Hunt for hidden cancer genes: families needed to unlock hereditary secrets