Definitions for neurofibromatosis
ˌnʊər oʊ faɪˌbroʊ məˈtoʊ sɪs, ˌnyʊər-neu·rofi·bro·mato·sis

Princeton's WordNetRate this definition:0.0 / 0 votes

1. neurofibromatosis, von Recklinghausen's diseasenoun

   autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities

WiktionaryRate this definition:0.0 / 0 votes

1. neurofibromatosisnoun

   A genetic disorder characterized by the presence of multiple neurofibromas under the skin

WikipediaRate this definition:0.0 / 0 votes

1. Neurofibromatosis

   Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system. The three types are neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2, there may be hearing loss, cataracts at a young age, balance problems, flesh colored skin flaps, and muscle wasting. In schwannomatosis there may be pain either in one location or in wide areas of the body. The tumors in NF are generally non-cancerous.The cause is a genetic mutation in certain oncogenes. These can be inherited, or in about half of cases spontaneously occur during early development. Different mutations result in the three types of NF. Neurofibromatosis arise from the supporting cells of the nervous system rather than the neurons themselves. In NF1, the tumors are neurofibromas (tumors of the peripheral nerves), while in NF2 and schwannomatosis tumors of Schwann cells are more common. Diagnosis is typically based on symptoms, examination, medical imaging, and biopsy. Genetic testing may rarely be done to support the diagnosis.There is no known prevention or cure. Surgery may be done to remove tumors that are causing problems or have become cancerous. Radiation and chemotherapy may also be used if cancer occurs. A cochlear implant or auditory brainstem implant may help some who have hearing loss due to the condition.In the United States, about 1 in 3,500 people have NF1 and 1 in 25,000 have NF2. Males and females are affected equally often. In NF1, symptoms are often present at birth or develop before 10 years of age. While the condition typically worsens with time, most people with NF1 have a normal life expectancy. In NF2, symptoms may not become apparent until early adulthood. NF2 increases the risk of early death. Descriptions of the condition occur as far back as the 1st century. It was formally described by Friedrich Daniel von Recklinghausen in 1882, after whom it was previously named.

ChatGPTRate this definition:0.0 / 0 votes

1. neurofibromatosis

   Neurofibromatosis is a group of genetic disorders that primarily affect the development and growth of nerve cell tissues. These disorders cause tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. There are three types namely: Neurofibromatosis type 1 (NF1), Neurofibromatosis type 2 (NF2) and Schwannomatosis. Symptoms and severity can vary greatly among individuals, even within the same family. Currently, there's no cure for neurofibromatosis, but treatments can help manage symptoms and complications.

WikidataRate this definition:0.0 / 0 votes

1. Neurofibromatosis

   Neurofibromatosis is a genetically-inherited disorder in which the nerve tissue grows tumors that may be benign and may cause serious damage by compressing nerves and other tissues. The disorder affects all neural crest cells. Cellular elements from these cell types proliferate excessively throughout the body, forming tumors; melanocytes also function abnormally in this disease, resulting in disordered skin pigmentation and café au lait spots. The tumors may cause bumps under the skin, colored spots, skeletal problems, pressure on spinal nerve roots, and other neurological problems. Neurofibromatosis is an autosomal dominant disorder, which means only one copy of the affected gene is needed for the disorder to develop. Therefore, if only one parent has neurofibromatosis, his or her children have a 50% chance of developing the condition as well. The severity in affected individuals can vary; this may be due to variable expressivity. Approximately half of cases are due to de novo mutations and no other affected family members are seen. It affects males and females equally.

Matched Categories

1. • Autosomal Dominant Disease
   • Monogenic Disorder

How to pronounce neurofibromatosis?

1. Alex

   US English

   David

   US English

   Mark

   US English

   Daniel

   British

   Libby

   British

   Mia

   British

   Karen

   Australian

   Hayley

   Australian

   Natasha

   Australian

   Veena

   Indian

   Priya

   Indian

   Neerja

   Indian

   Zira

   US English

   Oliver

   British

   Wendy

   British

   Fred

   US English

   Tessa

   South African

How to say neurofibromatosis in sign language?

Numerology

1. Chaldean Numerology

   The numerical value of neurofibromatosis in Chaldean Numerology is: 5

2. Pythagorean Numerology

   The numerical value of neurofibromatosis in Pythagorean Numerology is: 3

Popularity rank by frequency of use

References

1. ^ Princeton's WordNet
   http://wordnetweb.princeton.edu/perl/webwn?s=neurofibromatosis
2. ^ Wiktionary
   https://en.wiktionary.org/wiki/Neurofibromatosis
3. ^ Wikipedia
   https://en.wikipedia.org/wiki/Neurofibromatosis
4. ^ ChatGPT
   https://chat.openai.com
5. ^ Wikidata
   https://www.wikidata.org/w/index.php?search=neurofibromatosis