Café au lait patches | >99 | Birth to 12 y |
Skin-fold freckling | 85 | 3 y to adolescence |
Lisch nodules | 90–95 | >3 y |
Cutaneous neurofibromas | >99 | >7 y (usually late adolescence) |
Plexiform neurofibromas | 30 (visible) –50 (on imaging) | Birth to 18 y |
Disfiguring facial plexiform neurofibromas | 3–5 | Birth to 5 y |
Malignant peripheral nerve sheath tumour | 2–5 (8–13% lifetime risk) | 5–75 y |
Scoliosis | 10 | Birth to 18 y |
Scoliosis requiring surgery | 5 | Birth to 18 y |
Pseudarthrosis of tibia | 2 | Birth to 3 y |
Renal artery stenosis | 2 | Lifelong |
Phaeochromocytoma | 2 | >10 y |
Severe cognitive impairment (IQ <70) | 4–8 | Birth |
Learning problems | 30–60 | Birth |
Epilepsy | 6–7 | Lifelong |
Optic pathway glioma | 15 (only 5% symptomatic) | Birth to 7 y (up to 30 y) |
Cerebral gliomas | 2–3 | Lifelong |
Sphenoid wing dysplasia | <1 | Congenital |
Aqueduct stenosis | 1.5 | Lifelong |