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GTR Home > Conditions/Phenotypes > Deafness-lymphedema-leukemia syndrome

Deafness-lymphedema-leukemia syndrome

Synonyms
Emberger syndrome; Lymphedema, primary, with myelodysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Primary lymphedema with myelodysplasia, also known as Emberger syndrome, is a rare disorder characterized by childhood-onset lymphedema of the lower limbs, with lymphoscintigraphy suggestive of lymphatic vessel hypoplasia, and genital lymphatic abnormalities. Myelodysplasia is usually with monosomy 7. Multiple warts, deafness, and minor anomalies (mild hypotelorism, neck webbing, and slender fingers) may also be present (summary by Mansour et al., 2010). [from OMIM]

Available tests

80 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (80 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DCML, IMD21, MONOMAC, NFE1B, GATA2
    Summary: GATA binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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