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Isolated hemihyperplasia(IH)

MedGen UID:
383853
Concept ID:
C1856184
Disease or Syndrome
Synonyms: Hemi 3 syndrome; IH
 
Monarch Initiative: MONDO:0009331
OMIM®: 235000
Orphanet: ORPHA2128

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

From HPO
Embryonal neoplasm
MedGen UID:
45034
Concept ID:
C0027654
Neoplastic Process
A usually malignant neoplasm composed of primitive (immature) tissues that resemble fetal tissues. Medulloblastoma, ependymoblastoma, pineoblastoma, and Wilms tumor are representative embryonal neoplasms.
Nephroblastoma
MedGen UID:
10221
Concept ID:
C0027708
Neoplastic Process
The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children.
Hemihypertrophy
MedGen UID:
90701
Concept ID:
C0332890
Congenital Abnormality
Overgrowth of only one side of the body.
Myelomeningocele
MedGen UID:
7538
Concept ID:
C0025312
Congenital Abnormality
Protrusion of the meninges and portions of the spinal cord through a defect of the vertebral column.
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Skeletal muscle hypertrophy
MedGen UID:
853739
Concept ID:
C2265792
Finding
Abnormal increase in muscle size and mass not due to training.

Term Hierarchy

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

Professional guidelines

PubMed

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
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

Shin CH, Lim C, Kim HY, Yoo WJ, Cho TJ, Choi IH, Ko JM
Orphanet J Rare Dis 2021 Oct 9;16(1):418. doi: 10.1186/s13023-021-02042-6. PMID: 34627330Free PMC Article
Clericuzio CL, Martin RA
Genet Med 2009 Mar;11(3):220-2. doi: 10.1097/GIM.0b013e31819436cf. PMID: 19367194Free PMC Article
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
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856
Hoyme HE, Seaver LH, Jones KL, Procopio F, Crooks W, Feingold M
Am J Med Genet 1998 Oct 2;79(4):274-8. PMID: 9781907

Diagnosis

Shin CH, Lim C, Kim HY, Yoo WJ, Cho TJ, Choi IH, Ko JM
Orphanet J Rare Dis 2021 Oct 9;16(1):418. doi: 10.1186/s13023-021-02042-6. PMID: 34627330Free PMC Article
Gripp KW, Baker L, Kandula V, Conard K, Scavina M, Napoli JA, Griffin GC, Thacker M, Knox RG, Clark GR, Parker VE, Semple R, Mirzaa G, Keppler-Noreuil KM
Am J Med Genet A 2016 Oct;170(10):2559-69. Epub 2016 May 18 doi: 10.1002/ajmg.a.37758. PMID: 27191687Free PMC Article
Clericuzio CL, Martin RA
Genet Med 2009 Mar;11(3):220-2. doi: 10.1097/GIM.0b013e31819436cf. PMID: 19367194Free PMC Article
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
Dalal AB, Phadke SR, Pradhan M, Sharda S
Indian J Pediatr 2006 Jul;73(7):609-15. doi: 10.1007/BF02759927. PMID: 16877856

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

Shin CH, Lim C, Kim HY, Yoo WJ, Cho TJ, Choi IH, Ko JM
Orphanet J Rare Dis 2021 Oct 9;16(1):418. doi: 10.1186/s13023-021-02042-6. PMID: 34627330Free PMC Article
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

Romaris MJ, Caino S, Adamo P, Fano V
Arch Argent Pediatr 2022 Dec;120(6):405-414. Epub 2022 Oct 25 doi: 10.5546/aap.2022.eng.405. PMID: 36374059
Shin CH, Lim C, Kim HY, Yoo WJ, Cho TJ, Choi IH, Ko JM
Orphanet J Rare Dis 2021 Oct 9;16(1):418. doi: 10.1186/s13023-021-02042-6. PMID: 34627330Free PMC Article
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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