Review on Hemihyperplasia isolated, with data on clinics, and the genes involved

Phadke, Shubha R.

Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Cancer Prone Disease Section 
Mini Review 
 
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4)  361 
Atlas of Genetics and Cytogenetics 
in Oncology and Haematology                         
                         OPEN ACCESS JOURNAL AT INIST-CNRS 
Hemihyperplasia isolated 
Shubha R Phadke 
Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences Lucknow, 
India 
Published in Atlas Database: April 2007 
Online updated version: http://AtlasGeneticsOncology.org/Kprones/HemihyperplasiaID10046.html  
DOI: 10.4267/2042/15947 
This work is licensed under a Creative Commons Attribution-Non-commercial-No Derivative Works 2.0 France Licence. 
© 2007 Atlas of Genetics and Cytogenetics in Oncology and Haematology 
 
Identity 
Other names: Isolated hemihypertrophy 
Note: Excludes Proteus syndrome, Klippel Trenaunay 
Weber syndrome, neurofibromatosis, Beckwith 
Wiedemann syndrome, other syndromes associated 
with hemihypertrophy. 
Inheritance: Sporadic. 
Clinics 
Usually hemihypertrophy occurs sporadically but 
familial cases are reported. Though molecular defects 
have not been identified in all cases, there is evidence 
that IH occurs due to epigenetic defects or paternal 
uniparental disomy of genes of 11p15 in somatic 
mosaic form. 
 
 
A child with isolated hemihypertrophy involving left lower limb. Note Poland anomaly and hypoplastic nipple on left side - a rare 
associated feature. 
Hemihyperplasia isolated Phadke SR 
 
 
 
 
 
Atlas Genet Cytogenet Oncol Haematol. 2007;11(4)  362 
Phenotype and clinics 
Cases with hemihypertrophy not fulfilling criteria of 
complicated hemihypertrophies are grouped under 
isolated hemihypertrophy or hemihyperplasia. Though 
the title included the word 'hemi', only one limb may be 
involved. The condition is usually nonprogressive and 
the body disproportion does not change. Bone age may 
or may not be increased on the hypertrophied side. 
Some cases of isolated hemihyperplasia have other 
features like naevi, capillary haemangiomas and 
hypertrichosis. Mental retardation may be 
present.There are no specific laboratory abnormalities. 
Viscera (kidney) on the hypertrophied side may be 
enlarged. Plexiform neurofibromas may look like 
hemihypertrophy. 
Neoplastic risk 
The risk of neoplasm is around 5%. Wilms tumour is 
the commonest; but other tumors like hepatoblastoma, 
adrenal cell tumour and leiomyosarcoma are also 
reported. Three monthly ultrasonographic follow up for 
Wilms tumour up to 5 years and then yearly up to the 
completion of growth is recommended. 
Treatment 
Usually limb discrepancy is mild and no treatment is 
required. Corrective shoes, orthopedic procedures may 
be needed to correct limb length discrepancy. 
Evaluation of cognitive function and appropriate 
training may be needed. 
Prognosis 
The condition is nonprogressive and the prognosis is 
good. Close follow up for early detection of Wilms 
tumour is needed. 
Cytogenetics 
Note: Mosaic paternal uniparental disomy for 11p15 (a 
region involved in Beckwith Wiedemann syndrome) 
was reported in an affected twin of a monozygotic twin 
pair discordant for hemihyperplasia. Paternal  
uniparental disomy of 11p15 in somatic mosaic form is  
reported in 16% of patients with isolated 
hemihyperplasia. Abnormal methylation of either LIT1 
or H19 genes on chromosome 11p was seen in 8 out of 
27 children with isolated hemihyperplasia; suggesting 
that isolated hemihyperplasia might belong to the 
phenotype spectrum of Beckwith Wiedemann 
syndrome. But there may be some differences in the 
types of epigenetic defects in both disorders. It has also 
been shown that the cases of isolated hemihyperplasia 
with uniparental disomy of 11p15 are at a higher risk of 
Wilms tumour as compared to the cases of 
hemihyperplasia without uniparental disomy. 
References 
Biesecker LG, Peters KF, Darling TN, Choyke P, Hill S, 
Schimke N, Cunningham M, Meltzer P, Cohen MM Jr. Clinical 
differentiation between Proteus syndrome and 
hemihyperplasia: description of a distinct form of 
hemihyperplasia. Am J Med Genet 1998;79(4):311-318. 
Hoyme HE, Seaver LH, Jones KL, Procopio F, Crooks W, 
Feingold M. Isolated hemihyperplasia (hemihypertrophy): 
report of a prospective multicenter study of the incidence of 
neoplasia and review. Am J Med Genet 1998;79(4):274-278. 
West PM, Love DR, Stapleton PM, Winship IM. Paternal 
uniparental disomy in monozygotic twins discordant for 
hemihypertrophy. J Med Genet 2003;40(3):223-226. 
Niemitz EL, Feinberg AP, Brandenburg SA, Grundy PE, 
DeBaun MR. Children with idiopathic hemihypertrophy and 
Beckwith-Wiedemann syndrome have different constitutional 
epigenotypes associated with Wilms tumor. Am J Hum Genet 
2005;77(5):887-891. 
Martin RA, Grange DK, Zehnbauer B, Debaun MR. LIT1 and 
H19 methylation defects in isolated hemihyperplasia. Am J 
Med Genet A 2005;134(2):129-131. 
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. Constitutional UPD for chromosome 
11p15 in individuals with isolated hemihyperplasia is 
associated with high tumor risk and occurs following assisted 
reproductive technologies. Am J Med Genet A 
2006;140(14):1497-1503. 
This article should be referenced as such: 
Phadke SR. Hemihyperplasia isolated. Atlas Genet Cytogenet 
Oncol Haematol.2007;11(4):361-362.  
 
 


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