Legius syndrome | |
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Other names | Neurofibromatosis 1-like syndrome[1] |
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This condition is inherited in an autosomal dominant manner. | |
Symptoms | café au lait spots; +/- learning disabilities[2] |
Usual onset | at birth |
Causes | Mutations in the SPRED1 gene[3] |
Diagnostic method | Clinical findings, Genetic test[4] |
Differential diagnosis | neurofibromatosis type I |
Treatment | Physical therapy, Speech therapy[2][1] |
Prognosis | good |
Frequency | rare (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]
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