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Hemihyperplasia-multiple lipomatosis syndrome

Disease definition

Hemihyperplasia-multiple lipomatosis syndrome is a rare, genetic overgrowth syndrome characterized by non- progressive, asymmetrical, moderate hemihyperplasia (frequently affecting the limbs) associated with slow growing, painless, multiple, recurrent, subcutaneous lipomatous masses distributed throughout entire body (in particular back, torso, extremities, fingers, axillae). Superficial vascular malformations may also be associated. Increased risk of intra-abdominal embryonal malignancies may be associated.

ORPHA:276280

Classification level: Disorder
  • Synonym(s):
    • HHML
  • Prevalence: <1 / 1 000 000
  • Inheritance: Not applicable 
  • Age of onset: Childhood
  • ICD-10: Q87.3
  • OMIM: -
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -
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