Neurofibromatosis       Article     History   Tree Map
  Encyclopedia of Keywords > Humans > Health > Diseases > Genetic Disorders > Neurofibromatosis   Michael Charnine

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    This Review contains major "Neurofibromatosis"- related terms, short phrases and links grouped together in the form of Encyclopedia article.


  1. Neurofibromatosis is an autosomal dominant genetic disorder. (Web site)
  2. Neurofibromatosis is a neurocutaneous syndrome, it's passed down through the parents' genes, and it affects the brain, spinal cord, nerves, and skin.
  3. Neurofibromatosis is a genetic disorder of the nerve tissue presenting in two forms. (Web site)
  4. Neurofibromatosis is a genetic disorder of the nervous system.
  5. Neurofibromatosis is a genetic disorder that causes tumors to form on nerves throughout the body. (Web site)

Neurofibromatosis Type

  1. Robertson (1979) reported a patient with neurofibromatosis and grotesque, massive overgrowth of one leg.
  2. Benatar (1994) described a 27-year-old man with neurofibromatosis who presented with 3 intracranial fusiform aneurysms.
  3. Some people with neurofibromatosis 2 also develop cataracts (clouding of the lens in the eye) at an early age.
  4. Neurofibromatosis is usually diagnosed based on a combination of findings. (Web site)
  5. The gene causes neurofibromatosis. (Web site)


  1. Neurofibromatosis Resources - Photographs - Photos of cafe au lait spots and external neurofibroma tumors. (Web site)
  2. Riccardi and Eichner (1986) referred to the segmental form as neurofibromatosis type V. Combemale et al.
  3. Scoliosis The most common feature of Neurofibromatosis I are skin lesions called a cafe au lait spots. (Web site)
  4. Neurofibromatosis-Noonan syndrome is characterized by the occurrence of neurofibromatosis type I in association with manifestations of Noonan syndrome.


  1. The patient had typical skin signs of neurofibromatosis and had had a right below-knee amputation at age 5 for nonunion of a tibial fracture.
  2. Four other members of their sibship of 8, and members of 2 previous generations, including the mother, had neurofibromatosis.
  3. They found reports of 34 similar cases and pointed out that of the 67 patients collected by Dent (1952), 2 had neurofibromatosis.


  1. DESCRIPTION Neurofibromatosis is an autosomal dominant disorder characterized particularly by cafe-au-lait spots and fibromatous tumors of the skin.
  2. Neurofibromatosis -- a disease characterized by pigmented skin spots.
  3. She had cafe-au-lait spots and axillary freckling typical of neurofibromatosis and marked hypertelorism characteristic of Noonan syndrome.


  1. A missense mutation in the NF2 gene results in moderate and mild clinical phenotypes of neurofibromatosis type 2.
  2. In a patient with spinal neurofibromatosis but without cafe-au-lait (L2067P) mutation in exon 33 of the NF1 gene.
  3. Screening for mutations in the neurofibromatosis type 2 (NF2) gene in sporadic meningiomas.
  4. Neurofibromatosis (NF) has been classified into three distinct types: NF1, NF2 and Schwannomatosis.


  1. A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.
  2. Germline mutations in the neurofibromatosis type 2 tumour suppressor gene.

Carcinoid Tumor

  1. Pheochromocytoma was also present in 6 of the 27 cases with neurofibromatosis and duodenal carcinoid tumor.
  2. In 9 cases of neurofibromatosis with a carcinoid tumor studied by Griffiths et al.


  1. In particular, Sakurai (1935) published a beautifully illustrated paper linking characteristic iris nodules with von Recklinghausen neurofibromatosis.
  2. In addition to the types of neurofibromatosis, the phakomatoses also include tuberous sclerosis, Sturge-Weber syndrome and von Hippel-Lindau disease.
  3. Other disorders include neurofibromatosis 1 (NF1), von Hippel-Lindau disease (VHL), [ 23] and the hereditary paraganglioma syndromes. (Web site)
  4. To the MGH Neurogenetics Homepage for more information on inherited tumors such as neurofibromatosis, Von Hippel Lindau disease, and tuberous sclerosis. (Web site)

Benign Tumors

  1. Neurofibromatosis is associated with a tendency to malignant degeneration of the neurofibromas in an estimated 3 to 15% of cases.
  2. The more common form of this disorder, neurofibromatosis type 1, usually causes benign tumors outside the CNS.
  3. Although the benign tumors of neurofibromatosis are multiclonal in nature, the malignant lesion (neurofibrosarcoma) is monoclonal (Friedman et al., 1982).


  1. Auditory rehabilitation in neurofibromatosis type 2: a case for cochlear implantation.
  2. Central electrical stimulation of the auditory pathway in neurofibromatosis type 2.

Acoustic Neuromas

  1. However, acoustic neuroma is often linked with the genetic disorder neurofibromatosis type 2 (NF2). (Web site)
  2. Winter (1991) described dural ectasia in neurofibromatosis causing bony erosion that was sufficiently severe to destroy spinal stability.
  3. Neurofibromatosis type 2 is a disorder in which noncancerous tumors called vestibular schwannomas or acoustic neuromas develop along nerves in the inner ear. (Web site)
  4. In Neurofibromatosis II, there are not as many physical signs of the disease. (Web site)
  5. These growths cause a number of problems depending on the type of neurofibromatosis and the number, size and location of the tumours.

Neurofibromatosis Type I

  1. Neurofibromatosis type I (NF1) is caused by mutation in the neurofibromin gene. (Web site)
  2. In a patient with neurofibromatosis type I, Upadhyaya et al. (Web site)
  3. This appearance is characteristic of that of a plexiform neurofibroma, and pathognomonic for the diagnosis of Neurofibromatosis type I. (Web site)

Neurofibromatosis Type Ii

  1. Tuberous sclerosis, along with Neurofibromatosis type I, Neurofibromatosis type II (a.k.a.
  2. Yvonne Foong was diagnosed with neurofibromatosis type II (also known as NF II) in 2002. (Web site)


  1. Among 18 cases of neurofibromatosis with hypertension, Kalff et al.
  2. Single cases of renovascular hypertension in neurofibromatosis were reported by Allan and Davies (1970), Finley and Dabbs (1988), and others.


  1. Neurofibromatosis is considered a member of the neurocutaneous syndromes ( phakomatoses). (Web site)
  2. Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: the two most common neurocutaneous diseases.


  1. Persons with neurofibromatosis will have caf--au-lait spots and multiple fibromas.
  2. The first noticeable sign of neurofibromatosis is usually the presence of multiple café-au-lait spots. (Web site)


  1. Neurofibromatosis type 2 is due to mutation on chromosome 22q , the gene product is Merlin, a cytoskeletal protein. (Web site)
  2. The characteristic symptoms of Neurofibromatosis Type 2 usually develop around the time of puberty or during early adulthood.
  3. Sexual development may be delayed or may occur early (precocious puberty) in individuals with neurofibromatosis type 1. (Web site)

Peripheral Nerves

  1. Stephens K. Genetics of neurofibromatosis 1-associated peripheral nerve sheath tumors. (Web site)
  2. Neurofibromatosis -often called "elephant man's disease" and results in tumors occurring along peripheral nerves.

Recklinghausen Disease

  1. Neurofibromatosis 1 (Recklinghausen disease) and neurofibromatosis 2 (bilateral acoustic neurofibromatosis).
  2. Neurofibromatosis (NF), or von Recklinghausen disease, is a genetic disease in which patients develop multiple soft tumors (neurofibromas). (Web site)
  3. The cause of neurofibromatosis, or von Recklinghausen disease, is unknown but there is a genetic predisposition. (Web site)


  1. Learning disabilities and even blindness and deafness can result from neurofibromatosis, as well. (Web site)
  2. Daniel`s NF page The story of one child dealing with neurofibromatosis, hydrocephalus, optic glioma, blindness and learning difficulties. (Web site)

Tumors Grow

  1. Adornato and Berg (1977) observed the diencephalic syndrome in 2 infants who had neurofibromatosis and hypothalamic tumors.
  2. Neurofibromatosis Nerve tissue tumors form in the skin, subcutaneous tissue, cranial nerves and spinal root nerves.
  3. Neurofibromatosis causes tumors to grow on nerves and produce other abnormalities such as skin changes and bone deformities. (Web site)
  4. Neurofibromatosis Type 2 (NF-2) - group of inherited disorders in which noncancerous tumors grow on several nerves that usually include the hearing nerve.

Autosomal Dominant

  1. Neurofibromatosis type 2 is considered to have an autosomal dominant pattern of inheritance.
  2. Examples of autosomal dominant disorders include: Marfan syndrome, neurofibromatosis, and Waardenburg syndrome.


  1. Mid-Atlantic (of the United States) Home page of, a Malaysian effort to raise awareness for Neurofibromatosis.
  2. My book is called Faery Special Romances and will be released in May 2007 to coincide with Neurofibromatosis Awareness Month.


  1. These spontaneous or sporadic cases account for about one half of neurofibromatosis cases (ibid).
  2. However, everyone is at risk because 50% of cases result from spontaneous mutation in families with no previous history of neurofibromatosis. (Web site)

Nervous System

  1. Von Recklinghausen's disease (neurofibromatosis) --- a genetic disorder of the nervous system.
  2. Neurofibromatosis patients are also at risk of developing other types of cancerous tumors of the nervous system. (Web site)


  1. In Neurofibromatosis II, these tumors can occur anywhere in the body. (Web site)
  2. Neurofibromatosis (NF) causes tumours to grow anywhere on or in the body.

Appear During

  1. The symptoms of neurofibromatosis type 1 usually appear during childhood. (Web site)
  2. Neurofibromatosis 2 is a subtype of neurofibromatosis Signs and symptoms usually appear during adolescence or in the early 20s. (Web site)


  1. Humans > Health > Diseases > Genetic Disorders
  2. Adulthood
  3. Encyclopedia of Keywords > Time
  4. Glossaries > Glossary of Genetic Disorders /
  5. Books about "Neurofibromatosis" in

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  Short phrases about "Neurofibromatosis"
  Originally created: February 23, 2007.
  Links checked: May 23, 2013.
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