Abstract
IntroductionIsolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. This article describes the protocol and preliminary results of a lateral body asymmetry (hemihypertrophy) screening procedure performed in healthy adolescents in a multicenter study. The reported incidence of hemihypertrophy varies between different publications and standardized protocols are needed to improve research in this area.MethodsOur screening program is taking place in Australia, Israel, Mexico, Ukraine and USA. Procedure includes two steps: (1) “three measurements – three questions” screening, or assessment of face, palms, and shins; (2) in-depth assessment of selected cases in order to exclude localized, lesional, and syndrome-related cases as well as body asymmetry within normative range and to select suspected cases of isolated hemihypertrophy. This step includes measurements of various anatomical regions and a detailed questionnaire.ResultsAt this stage, the screening procedure is completed and the selected participants are advised to refer to medical institutions for further clinical and genetic follow up to exclude possible tumors and other accompanying disorders.ConclusionWe present an easy-to-use selection tool to identify children with suspected IH, which results in the selection of the risk group that may benefit from referral to a pediatrician and a clinical geneticist.
Highlights
Isolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body
Isolated or congenital hemihypertrophy (IH, isolated hemihyperplasia, Human Genetic Disorders Code: OMIM 23500; lateralized overgrowth) is a rare disorder characterized by asymmetric overgrowth of one side of the body
Diagnosing IH is complicated by similar conditions, including BeckwithWiedemann syndrome, Proteus syndrome, KlippelTrenaunay syndrome, and Sotos syndrome, which have symptoms similar to IH
Summary
Isolated or congenital hemihypertrophy is a rare disorder characterized by asymmetric overgrowth of one side of the body. Having a standardized screening procedure for such cases is desirable.[5,6] Adolescents are not usually at risk for tumor development, yet some internal abnormalities may accompany visible body asymmetry, which may severely affect quality of adolescents’ life.[1,2,7] Diagnosing IH is complicated by similar conditions, including BeckwithWiedemann syndrome, Proteus syndrome, KlippelTrenaunay syndrome, and Sotos syndrome, which have symptoms similar to IH.
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