Forms and Documents
- Confirmation of a clinical diagnosis
- Prenatal diagnosis
- Capillary Sequencing
Neurofibromatosis 1-like syndrome, or Legius syndrome, is an autosomal dominant disorder resembling neurofibromatosis 1 with cafe-au-lait spots, axillary freckling, macrocephaly, learning disabilities, ADHD, developmental delays, and dysmorphic facial features similar to Noonan syndrome (Denayer et al., 2010; Brems et al., 2007). Other typical NF1 features such as Lisch nodules of the iris, neurofibromas and central nervous system tumors are systematically absent (Denayer et al., 2010). Two studies revealed that approximately 2% of individuals fulfilling diagnostic criteria for NF1 have SPRED1 mutations (Messiaen et al 2009, Muram-Zborovski et al 2010).