Legius Syndrome

Description

An inherited condition caused by autosomal dominant mutation(s) in the SPRED1 gene, encoding sprouty-related, EVH1 domain-containing protein 1. The condition resembles neurofibromatosis type I but is less severe. Affected individuals may present with multiple cafe-au-lait spots, variable dysmorphic features, including hypertelorism or macrocephaly, lipomas, and mild learning disabilities or attention problems.