Orphanet: Deafness lymphedema leukemia syndrome
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Deafness-lymphedema-leukemia syndrome

Disease definition

A rare genetic disease characterized by the association of primary lymphedema (typically presenting in one or both lower limbs and frequently affecting the genitalia) and acute myeloid leukemia (often preceded by pancytopenia or myelodysplasia), with or without congenital deafness. Additional reported features include bilateral syndactyly of the toes, hypotelorism and epicanthic folds, long tapering fingers, and neck webbing.

ORPHA:3226

Classification level: Disorder
  • Synonym(s):
    • Emberger syndrome
    • Hearing loss-lymphedema-leukemia syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Childhood
  • ICD-10: D46.7
  • OMIM: 614038
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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