NF1
Medical abbreviation · Neurology
| Stands for | Neurofibromatosis type 1 |
|---|---|
| Categories | Medical |
NF1 stands for Neurofibromatosis type 1, a neurology abbreviation.
Common genetic disorder caused by variants in the NF1 gene on chromosome 17, affecting about 1 in 3,000 people. Features include café-au-lait skin spots, freckling in the armpits or groin, benign nerve sheath tumors (neurofibromas), Lisch nodules in the iris and learning difficulties.
Example: Seven café-au-lait macules and axillary freckling in a 5-year-old: meets clinical criteria for NF1.
Usage notes
Half of cases are inherited in an autosomal dominant pattern and half arise from new variants. Plexiform neurofibromas can grow large, and the MEK inhibitor selumetinib was approved in 2020 for symptomatic inoperable tumors in children. NF2, a separate disease, causes bilateral vestibular schwannomas and is now called NF2-related schwannomatosis.
Related abbreviations
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- MT – Mechanical thrombectomy
- mTBI – Mild traumatic brain injury
- NCS – Nerve conduction study
- NCSE – Nonconvulsive status epilepticus
- NCV – Nerve conduction velocity
- NIHSS – National Institutes of Health Stroke Scale
- NMOSD – Neuromyelitis optica spectrum disorder
- NPH – Normal pressure hydrocephalus
- OCB – Oligoclonal bands
- PCom – Posterior communicating artery
- PCS – Post-concussion syndrome
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This entry is for general education and is not medical advice. Abbreviation use varies between institutions; always confirm in context.