Kim Hunter-Schaedle, PhD, Chief Scientific Officer of the Children’s Tumor Foundation, discusses Neurofibromatosis, a complex disorder that affects 1 in 3000 children, making it more common than better known illnesses such as Duchenne Muscular Dystrophy, Cystic Fibrosis and Huntington’s disease combined.
Summary 1. Neurofibromatosis affects 1 in 300 children, it is a disorder of tumor suppressors and the tumors are always benign. There are 3 subtypes, NF1, NF2 and schwannomatosis or NF3, with NF1 being the most common form.
2. Diagnosis can be difficult as patients may present with a diverse array of symptoms, such as a learning disability or bone dysplasia, and for this reason patients should always be referred to specialists such as genetecists, neurologists or pediatricians who are familiar with the disorder.
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