The syndrome consists of excessive growth, distinctive craniofacial features, doli- chocephaly, premature tooth eruption, advanced bone age and learning disability. The syndrome may also be associated with an increased risk of tumours (Wilms tumour, hepatocarcinoma).
Intragenic mutations and microdeletions of the NSD1 gene located at chromosome 5q35 are responsible for Sotos syndrome. The gene codes for a histone methyltransferase implicated in transcriptional regulation.
