Back متلازمة ليجيوس Arabic Legius-Syndrom German Síndrome de Legius Spanish سندرم لجیوس Persian Sindrome di Legius Italian
| Legius syndrome | |
|---|---|
| Other names | Neurofibromatosis 1-like syndrome[1] |
 | |
| 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]
- ^ a b c Cite error: The named reference
orphwas invoked but never defined (see the help page). - ^ a b c Cite error: The named reference
nihwas invoked but never defined (see the help page). - ^ a b "Legius syndrome", Genetics Home Reference, National Institutes of Health
- ^ Cite error: The named reference
garwas invoked but never defined (see the help page). - ^ "SPRED1", Genetics Home Reference, National Institutes of Health
- ^ "Legius Syndrome Often Mistaken for Neurofibromatosis Type 1", by Allison Gandley, November 18, 2009, Medscape