An autosomal dominant disorder caused by NF1 gene mutations, characterized by multiple neurofibromas, café-au-lait spots, and learning disabilities. Increased risk of malignancies including malignant peripheral nerve sheath tumors.

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Variable. Most have normal lifespan. Malignant transformation in 3-5%. Learning disabilities common but manageable. Pain can be significant. MEK inhibitors transforming care for severe cases.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning