Legius syndrome

Legius syndrome
Other namesNeurofibromatosis 1-like syndrome[1]
This condition is inherited in an autosomal dominant manner.
Symptomscafé au lait spots; +/- learning disabilities[2]
Usual onsetat birth
CausesMutations in the SPRED1 gene[3]
Diagnostic methodClinical findings, Genetic test[4]
Differential diagnosisneurofibromatosis type I
TreatmentPhysical therapy, Speech therapy[2][1]
Prognosisgood
Frequencyrare (estimated at 1:46,000-1:75,000)[2]

Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots.[3] It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene.[5][6] It is also known as neurofibromatosis type 1-like syndrome.[1]

  1. ^ a b c Cite error: The named reference orph was invoked but never defined (see the help page).
  2. ^ a b c Cite error: The named reference nih was invoked but never defined (see the help page).
  3. ^ a b "Legius syndrome", Genetics Home Reference, National Institutes of Health
  4. ^ Cite error: The named reference gar was invoked but never defined (see the help page).
  5. ^ "SPRED1", Genetics Home Reference, National Institutes of Health
  6. ^ "Legius Syndrome Often Mistaken for Neurofibromatosis Type 1", by Allison Gandley, November 18, 2009, Medscape
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