Legius syndrome
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Legius syndrome. This is caused by mutations in the SPRED 1 gene. The transmission is autosomal dominant. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the SPRED 1 gene
- The transmission is autosomal dominant
Neurological features
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Dermatological features
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Skeletal features
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Differential diagnosis: neurofibromatosis
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Magnetic resonance imaging (MRI) brain
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Synonym
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References
- Denayer E, Chmara M, Brems H, et al. Legius syndrome in fourteen families. Hum Mutat 2011; 32:E1985-E1998.
- Bianchi M, Saletti V, Micheli R, et al. Legius syndrome: two novel mutations in the SPRED1 gene. Hum Genome Var 2015; 2:15051.
- Sumner K, Crockett DK, Muram T, Mallempati K, Best H, Mao R. The SPRED1 variants repository for Legius syndrome. G3 (Bethesda) 2011; 1:451-456.
