NF1 is a common genetic condition. The “spelling mistake” in the gene is found on chromosome 17 and occurs in 1 in 3000 of the population. There are approximately 25,000 people in the UK diagnosed with NF1.
The early signs of NF1 are café au lait spots (flat brown birthmarks) on the skin, freckles in unusual places, and neurofibromas (lumps and bumps) on the skin. One third of people with NF1 will have one or more medical complication during their lifetime. Mild learning difficulties are common in NF1 and for this reason it is important that teachers and educationalists know about a diagnosis in a child.
NF1 is normally easy to diagnose, but if there is doubt, a genetics department can usually help to clear up any uncertainty.