Legius Syndrome

Legius syndrome is an autosomal dominant condition characterized by cafe au lait spots. Legius syndrome (LS) is an autosomal dominant disorder caused by germline loss-of-function mutations in the sprouty-related, EVH1 domain containing 1 (SPRED1) gene.

It is caused by mutations in the SPRED1 gene. It is also known as Neurofibromatosis Type 1-like syndrome (NFLS). The syndrome is named after Eric Legius, Professor at the KU Leuven. It is a RASopathy.

The prevalence of Legius syndrome is unknown. Many individuals with this disorder are likely misdiagnosed because the signs and symptoms of Legius syndrome are similar to those of neurofibromatosis type 1.

Nearly all patients show multiple Café au lait spots. Other symptoms may include:
  • Freckles in the armpits and/or groin
  • Lipomas
  • Macrocephaly
  • Learning disabilities
  • ADHD
  • Developmental delay
Features common in neurofibromatosis - Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas and malignant peripheral nerve sheath tumors - are absent in this condition.

Other signs and symptoms of Legius syndrome may include an abnormally large head (macrocephaly) and unusual facial characteristics. Although most people with Legius syndrome have normal intelligence, some affected individuals have been diagnosed with learning disabilities, attention deficit disorder (ADD), or attention deficit hyperactivity disorder (ADHD).

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