0
Neurofibromatosis 2 (NF2) is a genetic disorder in which tumors form on the nerves of the brain and spine (the central nervous system).
See also: Neurofibromatosis 1(NF1)
Alternative NamesNF2; Bilateral acoustic neurofibromatosis; Central bilateral acoustic NF
Causes, incidence, and risk factorsNF2 is passed down through families in an autosomal dominant fashion. This means that if one parent has NF2, any child of that parent has a 50-50 chance of having it.
The main risk factor is having a family history of the condition.
SymptomsSymptoms of NF2 include:
- Balance problems
- Cataracts at a young age
- Changes in vision
- Coffee-colored marks on the skin
- Facial weakness
- Headaches
- Hearing loss
- Ringing and noises in the ears
Signs include:
- Brain and spinal tumors
- Hearing-related (acoustic) tumors
- Skin tumors
Tests include:
- Genetic testing
- Medical history
- MRI
- Physical examination
Acoustic neuromas can be observed, or treated with surgery or radiation.
Patients may benefit from genetic counseling.
Every year, patients with NF2 should be evaluated with:
- MRI of the brain and spinal cord
- Hearing and speech evaluation
- Eye exam
For information and support, visit www.nf.org.
ReferencesFerner RE. Neurofibromatosis 1 and neurofibromatosis 2: a twenty first century perspective. Lancet Neurol. 2007;6:340-351.
Haslam RHA. Neurocutaneous syndromes. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 596.
What else can I help you with?
When was neurofibromatosis discovered?
Neurofibromatosis type 1 (NF1) was first described in 1882 by the German pathologist Von Recklinghausen. Neurofibromatosis type 2 (NF2) was first described in 1820 by the Scottish surgeon JH Wishart.
Does neurofibromatosis affect certain populations more than others?
Neurofibromatosis occurs in about one of every 4,000 births. Two types of NF exist, NF-1 (90% of all cases), and NF-2 (10% of all cases).
What is neurofibromatosis?
Neurofibromatosis is a genetic disorder that causes tumors to grow on nerves in various parts of the body. There are three types of neurofibromatosis: NF1, NF2, and schwannomatosis. Symptoms can vary widely and may include skin changes, hearing loss, and balance problems, depending on the type of neurofibromatosis. Treatment options focus on managing symptoms and monitoring for any potential complications.
What is the difference between neurofibromatosis 1 and neurofibromatosis 2?
Neurofibromatosis 1 hyperpigmented macules (cafe au lait spots) nerve tumors types: cutaneous, subcutaneous and plexiform neurofibromas Optical tumors optic pathway gliomas and Lisch nodules (bumps on iris of the eye) Bony abnomralities dysplasias (malformations) of the eye socket, vertebrae Thinning of the long bone cortex Scoliosis can occur as well learning deficits yet large head size Increased rick of non nervous system cancers Neurofibromatosis 2 generally just schwannomas, meningomas and the occasional cataracts. Also they are both affected by different chromosomes... patients with NF1 has a mutation on the long arm of chromosome 17 while neurofibromatosis 2 has a mutation on chromosome 22.
Is Neurofibromatosis a dominant gene?
Both types of neurofibromatosis are an autosomal dominant genetic disorder which means an affected person has a 1 in 2 chance of passing it on in each pregnancy. Neurofibromatosis also can be the result of a mutation in the genetic material of the sperm or egg at conception even if families have no previous history of NF. About half of cases are inherited, and the other half are due to spontaneous genetic mutation
Can a prenatal test detect neurofibromatosis?
Clinical genetic testing can confirm the presence of a mutation in the neurofibromatosis type 1 (NF1) gene. Prenatal testing for NF1 mutations is also possible using amniocentesis or chorionic villus sampling procedures. Genetic testing for neurofibromatosis type 2 (NF2) mutations is sometimes available but is accurate only in about 65 percent of those individuals tested.
What are your chances of having neurofibromatosis if both parents have it?
If both parents have neurofibromatosis, the chances of their child inheriting the condition depend on the specific type of neurofibromatosis and the genetic patterns involved. For neurofibromatosis type 1 (NF1) and type 2 (NF2), which are both autosomal dominant disorders, there is a 25% chance the child will inherit the condition from each parent. If both parents have the same type, the likelihood of having a child with the disorder is higher, potentially leading to more severe manifestations. However, genetic counseling is recommended for specific risk assessment.
What is Neurofibromatosis type 2?
hereditary condition associated with an increased risk of bilateral acoustic neuromas, other nerve cell tumors and cataracts.
How do bilateral acoustic neuromas usually occur?
occur as part of a hereditary condition called Neurofibromatosis Type 2 (NF2). A person with NF2 has inherited a predisposition for developing acoustic neuromas and other tumors of the nerve cells
Is there a connecton between Neurofibromatosis type 2 and plantar fascial fibromatosis?
Neurofibromatosis type 2 (NF2) and plantar fascial fibromatosis are distinct conditions with different underlying mechanisms. NF2 is a genetic disorder characterized by the growth of tumors on the nerves, primarily affecting the central nervous system, due to mutations in the NF2 gene. Plantar fascial fibromatosis, on the other hand, involves the thickening of the plantar fascia due to abnormal fibroblast proliferation and is not directly linked to NF2. While both conditions can involve fibrous tissue growth, there is no established direct connection between them.
Is narcolepsy's mutation dominant or recessive?
Neurofibromatosis (NF) is a dominant trait. So only one copy of the mutated gene is needed to have the disorder...for example, if someone with NF marries another person without NF, then the chance that their child would have it is 50%.
How does neurofibromatosis spread?
German pathologist Friedrich Daniel von Recklinghausen is credited with first describing neurofibromatosis type 1 in 1882. NF1 is often called â??von Recklinghausen syndromeâ?? as a result. Scottish JH Wishart is credited with first describing neurofibromatosis type 2 in 1820.
