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 |