Differential diagnosis of Beckwith-Wiedemann syndrome - Genetic disorders

Syndrome	Diagnostic testing	Main characteristics
Isolated hemihyperplasia	Yes	Asymmetric overgrowth of one or more regions of the body; increased risk for embryonal tumor(s)
Mosaic genome-wide paternal uniparental disomy	Yes	Overgrowth, organomegaly, hemihyperplasia, hyperinsulinism, variable developmental delay, increased risk for benign and malignant tumors
Simpson-Golabi-Behmel syndrome	Yes	Macrocephaly, coarse facies, ocular hypertelorism, broad flat nose, macrostomia, macroglossia, cleft lip, nail hypoplasia, macrosomia, visceromegaly, skeletal abnormalities, increased risk for embryonal tumors
Costello syndrome	Yes	Coarse facies, loose skin, diffuse hypotonia, joint laxity, sparse fine hair, failure to thrive, increased risk for malignant solid tumors
Perlman syndrome	Yes	Macrosomia, unusual facies (depressed nasal bridge, anteverted upper lip, mild micrognathia), intellectual disability, increased risk for Wilms tumor
Sotos syndrome (cerebral gigantism)	Yes	Macrosomia, macrocephaly, ventriculomegaly, typical facial appearance, advanced bone age, intellectual disability
Weaver syndrome	Yes	Overgrowth involving height and head circumference, variable developmental delay, increased risk for leukemia

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