Glossary of Terms

Acoustic Neuroma

A benign and usually slow-growing tumor that develops on the main nerve leading from your inner ear to your brain. These tumors can eventually lead to hearing loss.


Autosomal Dominant Inheritance

The process by which one gene of a pair causes the expression of a trait or disorder. Such a gene has a 50% chance to be passed on to each child of an affected parent.


Café–au-lait Spots

Light brown flat spots on the skins, variable in shape and size. Six or more spots of at least 1/4 of an inch in diameter on a child and 3/4 of an inch in diameter on an adult is a symptom of NF.


CAT Scan (Computer Axial Tomography)

An X-ray test in which a computer generates cross-section views of a patient’s anatomy. It can identify normal and abnormal structures making it very useful for locating tumors.



The basic unit of an organism.


Central Nervous System

The central nervous system is composed of the brain and spinal cord. Your brain and spinal cord serve as the main “processing center” for the entire nervous system, and control all the workings of your body.



The part of a cell’s nucleus that contains the genes. The nucleus of each body cell contains 23 pairs of chromosomes. NF1 is caused by a change in a gene on Chromosome 17. NF2 is caused by a change in a gene on chromosome 22.



Related to the skin.



A doctor who specializes in diseases of the skin. People with NF often seek the care of a dermatologist due to the nature of the disorder.



The identification of a disease or a disorder. Sometimes signs and symptoms are enough to make a diagnosis. Sometimes lab tests and x-rays are also required.



Spread over a large area of a body, tissue, or organ.



Dominant is used to indicate the stronger gene in a pair. It is the gene whose message will be obeyed to produce a particular characteristic.


Family Practitioner

A doctor in general practice whose extended education and practice qualifies him for certification as a family practitioner. This doctor may serve as the “ general contractor” co-coordinating your care with other specialists.


A tumor composed mainly of fibrous or connective tissue.


A biological unit of heredity. Genes determine the structure and function of all proteins in the body. In turn , these proteins govern body shape and function.


A type of brain tumor.


The process of passing on characteristics and traits from parent to child.

Learning Disability

When a person has an average or above average intelligence but has difficulty in processing information. Learning disabilities can affect ones ability to listen, think, read, spell and/or compute math.

MRI (Magnetic Resonance Imaging)

A diagnosis technique which uses magnetic energy to image the brain and body.


A permanent change in a gene that occurs by chance; it can be passed on to future generations.


A benign tumor of the nerve, blood vessel and fibrous tissue.


A doctor who treats diseases or disorders of the nervous system.


A growth or tumor of nerve tissue.


A specialists who treats disorders of the brain, spine and nervous system.

Optic Glioma

A tumor affecting the optic(visual) nerve, which may occur in Neurofibromatosis.


A doctor that specializes in medical and surgical care of the eyes.


Is the bony cavity of the skull in which the eye ball is located.


Sometimes called Orthopods; they specialize in prevention and correction of disorders involving the skeleton.


Specializes in diseases of the ears, nose and throat.


Is a doctor who specializes in the care of infants and children; usually until the age of 16.

Plexiform Neurofibroma

A network of tumors that occur internally below the skin.



Failure of a fracture to heal; results in a “False Joint”.



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