Legius syndrome
| Legius syndrome | |
|---|---|
| Other names | Neurofibromatosis 1-like syndrome |
| This condition is inherited in an autosomal dominant manner. | |
| Symptoms | café au lait spots; +/- learning disabilities |
| Usual onset | at birth |
| Causes | Mutations in the SPRED1 gene |
| Diagnostic method | Clinical findings, Genetic test |
| Differential diagnosis | neurofibromatosis type I |
| Treatment | Physical therapy, Speech therapy |
| Prognosis | good |
| Frequency | rare (estimated at 1:46,000-1:75,000) |
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene. It is also known as neurofibromatosis type 1-like syndrome.