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Related to neurofibromatosis: Neurofibromatosis Type 2, Neurofibromatosis Type 1


 (no͝or′ō-fī′brō-mə-tō′sĭs, nyo͝or′-)
n. Abbr. NF
Any of several genetic diseases characterized by the development of benign tumors of the nerves and, in the most common form, associated with abnormal skin pigmentation and bone deformities.


(Medicine) a condition characterized by the formation of benign tumours on the fibrous coverings of the peripheral nerves and the development of areas of café-au-lait spots


(ˌnʊər oʊ faɪˌbroʊ məˈtoʊ sɪs, ˌnyʊər-)

a genetic disorder characterized by brown patches on the skin, neurofibromas of the skin and internal organs, and in some cases skeletal deformity.
ThesaurusAntonymsRelated WordsSynonymsLegend:
Noun1.neurofibromatosis - autosomal dominant disease characterized by numerous neurofibromas and by spots on the skin and often by developmental abnormalities
monogenic disease, monogenic disorder - an inherited disease controlled by a single pair of genes
autosomal dominant disease, autosomal dominant disorder - a disease caused by a dominant mutant gene on an autosome


n neurofibromatosis f
References in periodicals archive ?
The potential benefit of the product in neurofibromatosis type 1 is being explored in the US National Cancer Institute-sponsored Phase I/II SPRINT trial in paediatric patients with symptomatic neurofibromatosis type 1 -related Plexiform neurofibromas.
Neurofibromatosis type 2 results from a genetic mutation located on chromosome 22 that produces a protein called merlin and occurs in adolescence.
Clinical and genetic aspects of neurofibromatosis 1.
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) with hypertrophic spinal radiculopathy mimicking neurofibromatosis.
She said: "My dad was a very private man, he never spoke about his neurofibromatosis, but I think he felt very guilty about passing it on to me.
Neurofibromatosis is a hamartomatous disorder of cellular components of neural crest origin.
New drugs desperately are needed to treat MPNST and provide hope to NF1 patients at highest risk for this cancer, concludes Le, who also serves as codirector of the Comprehensive Neurofibromatosis Clinic.
El presente estudio pretende mostrar una serie de dos casos de pacientes con Schwannomas vestibulares bilaterales asociados a Neurofibromatosis tipo 2 en mujeres jovenes, sin antecedentes, personales o familiares, y ademas de los Schwannomas vestibulares bilaterales; evidencia de otros tumores, como meningioma intraventricular y Schwannoma a nivel cervical que depende de otro nervio espinal.
Table 3 shows the diseases associated with neurofibromatosis.
Charity director, Karen Cockburn, said: "We are delighted that so many organisations have chosen to support World Neurofibromatosis Awareness Day in this way.