Legius syndrome

Legius syndrome (LS)

[prevalence unknown]

Legius syndrome (LS) is characterized by multiple café au lait macules without neurofibromas or other tumor manifestations of neurofibromatosis type 1 (NF1). Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays. Current knowledge of the natural history of Legius syndrome is based on the clinical manifestations of fewer than 200 individuals with a molecularly confirmed diagnosis; better delineation of the clinical manifestations and natural history of Legius syndrome will likely occur as more affected individuals are identified.

[Stevenson D, Viskochil D, Mao R, GeneReviews for Legius syndrome, 2015]

External Webpage Link: