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Isolated hemihyperplasia(IH)

MedGen UID:
383853
Concept ID:
C1856184
Disease or Syndrome
Synonyms: Hemi 3 syndrome; HEMIHYPERPLASIA; IH
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Cytogenetic location: 11p15
OMIM®: 235000

Definition

Isolated hemihyperplasia is an abnormality of cell proliferation leading to asymmetric overgrowth of one or more regions of the body. The term 'hemihyperplasia' has replaced the term 'hemihypertrophy' to describe accurately the increase in cell number found in these patients. The incidence of isolated hemihyperplasia is estimated to be 1 in 86,000. Idiopathic hemihypertrophy is associated with increased risk of embryonal cancers in childhood, particularly Wilms tumor (194070) (Shuman et al., 2006). Hoyme et al. (1998) provided an anatomic classification of hemihyperplasia: complex hemihyperplasia is involvement of half of the body, including at least 1 arm and 1 leg; affected parts may be contralateral or ipsilateral. Simple hemihyperplasia is involvement of a single limb. See also facial hemihyperplasia (133900). Although isolated hemihyperplasia is a distinct clinical entity, it can also occur as a feature of overgrowth syndromes, including Beckwith-Wiedemann syndrome (BWS; 130650), neurofibromatosis (NF1; 162200), Proteus syndrome (176920), and Klippel-Trenaunay-Weber syndrome (149000) (Shuman et al., 2006). [from OMIM]

Clinical features

Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Overgrowth of only one side of the body.
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Overgrowth of only one side of the body.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Hypertrophy (increase in size) of muscle cells (as opposed to hyperplasia, which refers to an increase in the number of muscle cells).

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVIsolated hemihyperplasia

Professional guidelines

PubMed

Clericuzio CL, Martin RA
Genet Med 2009 Mar;11(3):220-2. doi: 10.1097/GIM.0b013e31819436cf. PMID: 19367194Free PMC Article

Recent clinical studies

Etiology

Atik T, Cogulu O, Ozkinay F
Genet Couns 2014;25(4):417-21. PMID: 25804021
Dempsey-Robertson M, Wilkes D, Stall A, Bush P
J Pediatr Orthop 2012 Apr-May;32(3):322-6. doi: 10.1097/BPO.0b013e3182471b04. PMID: 22411341
Clericuzio CL, Martin RA
Genet Med 2009 Mar;11(3):220-2. doi: 10.1097/GIM.0b013e31819436cf. PMID: 19367194Free PMC Article
Bliek J, Maas S, Alders M, Merks JH, Mannens M
J Pediatr 2008 Jul;153(1):95-100. Epub 2008 Mar 7 doi: 10.1016/j.jpeds.2007.12.022. PMID: 18571544
Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R
Am J Med Genet A 2006 Jul 15;140(14):1497-503. doi: 10.1002/ajmg.a.31323. PMID: 16770802

Diagnosis

Dempsey-Robertson M, Wilkes D, Stall A, Bush P
J Pediatr Orthop 2012 Apr-May;32(3):322-6. doi: 10.1097/BPO.0b013e3182471b04. PMID: 22411341
Clericuzio CL, Martin RA
Genet Med 2009 Mar;11(3):220-2. doi: 10.1097/GIM.0b013e31819436cf. PMID: 19367194Free PMC Article
Demir HA, Varan A, Akçören Z, Haliloglu M, Büyükpamukcu M
J Pediatr Hematol Oncol 2008 Oct;30(10):775-7. doi: 10.1097/MPH.0b013e3181812c7c. PMID: 19011479
Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R
Am J Med Genet A 2006 Jul 15;140(14):1497-503. doi: 10.1002/ajmg.a.31323. PMID: 16770802
Heilstedt HA, Bacino CA
BMC Med Genet 2004 Feb 2;5:1. doi: 10.1186/1471-2350-5-1. PMID: 15040809Free PMC Article

Therapy

Shuman C, Smith AC, Steele L, Ray PN, Clericuzio C, Zackai E, Parisi MA, Meadows AT, Kelly T, Tichauer D, Squire JA, Sadowski P, Weksberg R
Am J Med Genet A 2006 Jul 15;140(14):1497-503. doi: 10.1002/ajmg.a.31323. PMID: 16770802

Prognosis

Atik T, Cogulu O, Ozkinay F
Genet Couns 2014;25(4):417-21. PMID: 25804021
Dempsey-Robertson M, Wilkes D, Stall A, Bush P
J Pediatr Orthop 2012 Apr-May;32(3):322-6. doi: 10.1097/BPO.0b013e3182471b04. PMID: 22411341
Mirastschijski U, Altmann S, Lenz-Scharf O, Muschke P, Schneider W
J Plast Surg Hand Surg 2012 Feb;46(1):45-8. Epub 2010 Sep 6 doi: 10.3109/02844310902957728. PMID: 21446802
Bliek J, Maas S, Alders M, Merks JH, Mannens M
J Pediatr 2008 Jul;153(1):95-100. Epub 2008 Mar 7 doi: 10.1016/j.jpeds.2007.12.022. PMID: 18571544

Clinical prediction guides

Romão RL, Pippi Salle JL, Shuman C, Weksberg R, Figueroa V, Weber B, Bägli DJ, Farhat WA, Grant R, Gerstle JT, Lorenzo AJ
J Urol 2012 Oct;188(4 Suppl):1493-8. Epub 2012 Aug 19 doi: 10.1016/j.juro.2012.02.034. PMID: 22910237
Romanelli V, Belinchón A, Benito-Sanz S, Martínez-Glez V, Gracia-Bouthelier R, Heath KE, Campos-Barros A, García-Miñaur S, Fernandez L, Meneses H, López-Siguero JP, Guillén-Navarro E, Gómez-Puertas P, Wesselink JJ, Mercado G, Esteban-Marfil V, Palomo R, Mena R, Sánchez A, Del Campo M, Lapunzina P
Am J Med Genet A 2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. PMID: 20503313
Bliek J, Maas S, Alders M, Merks JH, Mannens M
J Pediatr 2008 Jul;153(1):95-100. Epub 2008 Mar 7 doi: 10.1016/j.jpeds.2007.12.022. PMID: 18571544
Tan TY, Amor DJ
J Paediatr Child Health 2006 Sep;42(9):486-90. doi: 10.1111/j.1440-1754.2006.00908.x. PMID: 16925531

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