A study of 29 patients [13] with type-1 NF1 deletions highlighted exacerbated features such as much earlier onset of cutaneous neurofibromas, dysmorphic facial features, large hands and feet, scoliosis, developmental delay, learning disabilities, accumulation of high tumour burden, cardiovascular malformations and a much higher risk of developing a malignant peripheral nerve sheath tumour (MPNST), an aggressive cancer associated with a poor prognosis [14]. The gene discussed is NF1; the disease is malignant peripheral nerve sheath tumor.