The Children's Tumor Foundation is a non-profit 501(c)(3) medical foundation, dedicated to improving the health and well being of individuals and families affected by the neurofibromatoses (NF).
The mission of The Children's Tumor Foundation is to:
- Encourage and support research and the development of treatments and cures for neurofibromatosis types 1 and 2, schwannomatosis and related disorders (hereafter collectively referred to as "NF");
- Support persons with NF, their families and caregivers by providing thorough, accurate, current and readily accessible information;
- Assist in the development of clinical centers, best practices and other patient support mechanisms (but not including direct medical care) to create better access to quality healthcare for affected individuals; and,
- Expand public awareness of NF to promote earlier and accurate diagnoses by the medical community, increase the non-affected population's understanding of the challenges facing persons with NF, and encourage financial and other forms of support from public and private sources
Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis.
- Neurofibromatosis 1 (NF1): also known as von Recklinghausen NF or Peripheral NF. Occurring in 1:3,000 births, web characterized by multiple cafe-au-lait spots and neurofibromas on or under the skin. Enlargement and deformation of bones and curvature of the spine (scoliosis) may also occur. Occasionally, tumors may develop in the brain, on cranial nerves, or on the spinal cord. About 50% of people with NF also have learning disabilities.
- Neurofibromatosis 2 (NF2): also known as Bilateral Acoustic NF (BAN), is much rarer occurring in 1:25,000 births. NF2 is characterized by multiple tumors on the cranial and spinal nerves, and by other lesions of the brain and spinal cord. Tumors affecting both of the auditory nerves are the hallmark. Hearing loss beginning in the teens or early twenties is generally the first symptom.
- Schwannomatosis: a rare form of NF that has only recently been recognized and appears to affect around 1:40,000 individuals. It is less well understood than NF1 and NF2, and features may vary greatly between patients.
The genetics of NF1 and NF2 are outlined below. Unlike NF1 and NF2, the inheritance patterns of Schwannomatosis are not understood due largely to lack of cases to study. However it is estimated that 85% of cases are in fact sporadic (no previous family history) and 15% are inherited.