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Hemihyperplasia-multiple lipomatosis syndrome

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: hemihyperplasia-multiple lipomatosis syndrome; HHML
Modes of inheritance:
Not genetically inherited
MedGen UID:
Concept ID:
Source: Orphanet
clinical entity without genetic inheritance.
Monarch Initiative: MONDO:0017177
Orphanet: ORPHA276280


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. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemihyperplasia-multiple lipomatosis syndrome
Follow this link to review classifications for Hemihyperplasia-multiple lipomatosis syndrome in Orphanet.

Professional guidelines


Keppler-Noreuil KM, Rios JJ, Parker VE, Semple RK, Lindhurst MJ, Sapp JC, Alomari A, Ezaki M, Dobyns W, Biesecker LG
Am J Med Genet A 2015 Feb;167A(2):287-95. Epub 2014 Dec 31 doi: 10.1002/ajmg.a.36836. PMID: 25557259Free PMC Article

Recent clinical studies


Erpolat S, Tekerekoglu B, Sonmez FM
Genet Couns 2014;25(3):251-5. PMID: 25365846
Craiglow BG, Ko CJ, Antaya RJ
Pediatr Dermatol 2014 Jul-Aug;31(4):507-10. Epub 2013 Mar 5 doi: 10.1111/pde.12071. PMID: 23458125
Boybeyi O, Alanay Y, Kayikçioğlu A, Karnak I
J Pediatr Surg 2010 Jan;45(1):E19-23. doi: 10.1016/j.jpedsurg.2009.10.059. PMID: 20105568
Schulte TL, Liljenqvist U, Görgens H, Hackenberg L, Bullmann V, Tinschert S
Acta Orthop Belg 2008 Oct;74(5):714-9. PMID: 19058713

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