GTR Home > Conditions/Phenotypes > Legius syndrome

Disease characteristics

Excerpted from the GeneReview: Legius Syndrome
Legius syndrome 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.

Associated genes

Clinical features

  • Cafe-au-lait spot
  • Short neck
  • Epicanthus
  • Triangular face
  • Low-set, posteriorly rotated ears
  • Axillary freckling
  • Low posterior hairline
  • Downslanted palpebral fissures
  • Micrognathia
  • Macrocephaly
  • High palate
  • Hypertelorism
  • Ptosis
  • Abnormality of the sternum
  • Multiple lipomas
  • Neurofibromas
  • Specific learning disability
  • Attention deficit hyperactivity disorder
Show all (18)

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

Write to the Help Desk