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Hemihyperplasia-multiple lipomatosis syndrome

MedGen UID:
1651269
Concept ID:
C4749904
Disease or Syndrome
Synonyms: Hemihyperplasia with multiple lipomatosis syndrome; hemihyperplasia-multiple lipomatosis syndrome; HHML; HHML (hemihyperplasia multiple lipomatosis) syndrome
SNOMED CT: Hemihyperplasia with multiple lipomatosis syndrome (771440006); HHML (hemihyperplasia multiple lipomatosis) syndrome (771440006)
Modes of inheritance:
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0017177
Orphanet: ORPHA276280

Definition

A rare genetic overgrowth syndrome with characteristics of 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 SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHemihyperplasia-multiple lipomatosis syndrome

Professional guidelines

PubMed

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

Diagnosis

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

Supplemental Content

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