Nf1 what is it

Fortunately, most of these tumors do not grow significantly and do not affect vision. Although cancerous neurofibromas and central nervous system tumors are the most common malignancies in NF1, affected women may also face a moderately increased risk of breast cancer development.

If your child has already been diagnosed with NF1 and you notice that a growing tumor is beginning to cause a problem, tell your doctor immediately. Approximately half of individuals with NF1 have some learning issue, which can affect school function. Children with developmental delays or who are struggling in should be formally evaluated for learning issues.

If your child has a learning disability one of the most important things to do is to have formal neuropsychological testing and to get early intervention. Although most of the tumors associated with neurofibromatosis type 1 are benign, individuals with NF1 should be monitored for the development of these tumors. Some can cause complications, such as loss of vision with optic pathway gliomas. A person with neurofibromatosis type 1 NF1 who does not wish to pass this disorder on to future children has several reproductive options, including:.

Before one can proceed with prenatal testing or PGD, an NF1 mutation must be identified in a parent with neurofibromatosis type 1. Before one can proceed with prenatal testing or PGD, an nf1 gene mutation must be identified in a parent with neurofibromatosis type 1.

Neurofibromatosis Type 1. Contact Us. New Patients. Follow-up Patients. How is neurofibromatosis type 1 inherited? Genetic testing In order to confirm on a molecular level that an individual has neurofibromatosis type 1 NF1 , he or she can undergo genetic testing: Generally, a sample of blood is obtained.

DNA is isolated from this sample, and the two copies of the nf1 gene are analyzed using a variety of methods and compared to the normal reference sequence for the nf1 gene. If an alteration in one nf1 gene copy is identified, the genetic counselor can examine whether the alteration has been previously reported in other individuals with NF1. The recommended cancer screening protocol for patients with NF1 includes: Annual physical evaluations including blood pressure monitoring by a physician familiar with the patient and the disorder Annual ophthalmologic screenings in early childhood, less frequent examination in older children and adults Other evaluations depending on symptoms Other recommended screenings include: Regular assessments of developmental and school progress in children Monitoring of those who have abnormalities of the central nervous system, skeletal system, or cardiovascular system by an appropriate specialist Investigation of clinically apparent signs and symptoms through further studies.

A person with neurofibromatosis type 1 NF1 who does not wish to pass this disorder on to future children has several reproductive options, including: Prenatal diagnosis: DNA is obtained from the cells of the embryo through chorionic villus sampling CVS or amniocentesis.

When doctors suspect a child has NF1, they usually look for brain, bone, and other problems using:. Because children with NF1 get more signs and symptoms as they grow, the diagnosis may not be made right away. Almost all kids with the condition are diagnosed by the time they're 8 years old. Most children with NF1 have mild symptoms, and live full, typical lives. A child with NF1 needs regular checkups so doctors can look for:.

Research continues into better treatments for people with NF. Ask if your child might be a candidate for a clinical trial that's testing a new treatment option. Reviewed by: Karen W. Gripp, MD. Genetics at Nemours Children's Health. Larger text size Large text size Regular text size. What Is Neurofibromatosis Type 1?

Most kids with NF1 have mild symptoms that don't limit what they can do. There are two main types of neurofibromatosis: NF1: The most common type, it affects 1 of every 3, births. Ophthalmic manifestations in neurofibromatosis type 1. Survey of Ophthalmology. American Association of Neurological Surgeons. What is acoustic neuroma? Acoustic Neuroma Association. Neurofibromatosis type 1 NF1 : Management and prognosis. Daroff RB, et al. Neurocutaneous syndromes. In: Bradley's Neurology in Clinical Practice.

Saunders Elsevier; Chung LK, et al. A systemic review of radiosurgery versus surgery for neurofibromatosis type 2 vestibular schwannomas. World Neurosurgery. Flint PW, et al. Stereotactic radiation treatment of benign tumors of the cranial base. Howell SJ, et al. Increased risk of breast cancer in neurofibromatosis type 1: Current insights. Breast Cancer. Kellerman RD, et al. In: Conn's Current Therapy Walker JA, et al. Emerging therapeutic targets for neurofibromatosis type 1.

Expert Opinion on Therapeutic Targets. Riggin E. Allscripts EPSi. National Cancer Institute. Brain stem auditory evoked response test. Related Collecting Pennies Through the Pain. Mayo Clinic in Rochester, Minn. Learn more about this top honor. Mayo Clinic Press Check out these best-sellers and special offers on books and newsletters from Mayo Clinic.