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Pediatric Neurofibromatosis

Neurofibromatosis (NF1) is a life-long condition usually diagnosed early in life, often within the first year. NF1 is diagnosed based on specific skin, ocular, and other physical findings, and genetic blood testing in selected cases. Half of all children who have NF inherited the disease from an affected parent, while the other half has no family history, meaning that the disease occurs spontaneously.

NF1 occurs once in approximately 3,500 births and is characterized by:

  • Multiple café au lait (light brown) spots
  • Neurofibromas (benign tumors growing on the sheath of a nerve) on or under the skin
  • Enlargement and deformation of bones and curvature of the spine (scoliosis)
  • Tumors that may develop in the brain, on cranial nerves, or in the spinal cord
  • Learning disabilities, in about half of people with NF1

Although NF1 is a congenital (present at birth) condition, the full extent of the disease is usually revealed only as a child grows and develops. More than 95% of children with NF1 develop multiple café au lait spots. Young children with multiple cafe-au lait spots and no other NF1 features, whose parents do not show signs of NF1, are still at risk of having NF1. For many children, other aspects of NF1 can increase with age.

Children's Team

Children's Team

Providers

Children's National Hospital

Ryan Uy

Developmental and Behavioral Pediatrician
Medical Director, Fragile X Clinic
Gerard Gioia

Gerard Gioia

Division Chief, Neuropsychology
Director, Safe Concussion Outcome, Recovery and Education (SCORE) Program
Roger Packer

Roger Packer

Senior Vice President, Center for Neuroscience and Behavioral Health
Director, Gilbert Neurofibromatosis Institute
Director, Brain Tumor Institute
Our Stories

Our Stories

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Ida's Story

Ida Namazi is a bright, ambitious 21-year-old University of Virginia junior who dreams of attending law school and becoming a senator one day. What people might not know about Ida is that she was diagnosed with neurofibromatosis type 1 (NF1) when she was a toddler and has been battling the neurologic condition her whole life.

Departments

Departments

Neurofibromatosis Institute

Learn more about our world-renowned Gilbert Family Neurofibromatosis Institute, which helps children with neurofibromatosis type 1 or 2 live more normal lives.

Neurosurgery

Our neurosurgery experts provide advanced care for newborns and children with complex neurological conditions.

Neuropsychology

Children’s National Hospital has some of the world’s foremost experts in care for children with complex neurodevelopmental disorders affecting the brain and central nervous system.

Bone Health Program

Orthopaedists at Children’s National offer world-renowned expertise and life-changing care, including surgery, for children at high risk for bone fracture.

Cancer Genetics Program

Our cancer genetics experts help answer important questions about your child’s inherited risk for cancer.

Orthopaedic Surgery and Sports Medicine

From sprains and strains to complex congenital conditions, Children’s National Hospital offers one of the most experienced pediatric orthopaedic practices in the nation with experience in treating all areas from head to toe.

Rare Disease Institute

Children’s National Rare Disease Institute (CNRDI) is a first-of-its-kind center focused exclusively on advancing the care and treatment of children and adults with rare genetic diseases.

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