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Hennekam syndrome

Disease definition

A rare syndromic lymphedema characterized by the association of primary lymphedema, intestinal lymphangiectasia, intellectual deficit and unusual facial characteristics.


Classification level: Disorder
  • Synonym(s):
    • Lymphedema-lymphangiectasia-intellectual disability syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: Q87.8
  • OMIM: 235510  616006  618154
  • UMLS: C0340834
  • MeSH: -
  • GARD: 3318
  • MedDRA: -
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