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Legius syndrome
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots.〔("Legius syndrome", Genetics Home Reference, National Institutes of Health )〕 It was first described in 2007 and is often mistaken for Neurofibromatosis type I (NF-1). It is caused by mutations in the SPRED1 gene.〔("SPRED1", Genetics Home Reference, National Institutes of Health )〕〔("Legius Syndrome Often Mistaken for Neurofibromatosis Type 1", by Allison Gandley, November 18, 2009, Medscape )〕〔("Legius Syndrome (SPRED1) Sequencing & (NF1) Sequencing Exon 22 (Exon 17)", May 2010, ARUP Laboratories )〕 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.
== Symptoms ==
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〔(), Pagon RA, Bird TD, Dolan CR, et al.〕
Features common in neurofibromatosis - Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas and malignant peripheral nerve sheath tumors - are absent in this condition.
抄文引用元・出典: フリー百科事典『 ウィキペディア（Wikipedia）』
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