Neurofibromatosis type 1
ORPHA:636· ICD-10 Q85.0
Definition
Neurofibromatosis type 1 (NF1) is a clinically heterogeneous, neurocutaneous genetic disorder characterized by café-au-lait spots, iris Lisch nodules, axillary and inguinal freckling, and multiple neurofibromas.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal