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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: C4749904
  • MeSH: -
  • GARD: -
  • MedDRA: -

  A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Detailed information

Disease review articles

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.