Cafe au lait - Brown oval spots on the skin the color of coffee with milk.
Neurofibroma - A benign tumor caused by proliferation of Schwann cells and fibroblasts.
Plexiform Neurofibroma(s) - A neurofibroma in which Schwann cells proliferate inside the nerve sheath, producing an irregularly thickened, distorted, tortuous structure. Also called plexiform neuroma.
Lisch nodule - Small masses of pigment on the iris of the eye that does not affect vision. They are often seen in the eyes of individuals with Neurofibromatosis type I (NF-I), and used as a diagnostic criteria for NF-l.
Optic Glioma(s) - Gliomas are tumors that can be found in various parts of the brain. They are created by the growth of abnormal cells. Optic gliomas can affect:
  • One or both optic nerves -- these are the nerves that carry visual information to the brain from each eye
  • The optic chiasm -- this is the region where the optic nerves cross each other in front of the hypothalamus of the brain
Astrocytomas - A malignant tumor of nervous tissue composed of well-differentiated astrocytes. Also called grade I astrocytoma.
Hypertension - 1. Persistent high blood pressure. 2. Arterial disease in which chronic high blood pressure is the primary symptom.
Pheochromocytoma - A tumor of the adrenal gland that causes severe high blood pressure.
Epilepsy - Any of various neurological disorders characterized by sudden, recurring attacks of motor, sensory, or psychic malfunction with or without loss of consciousness or convulsive seizures. Also called seizure disorder.
Scoliosis - A condition of lateral curvature of the spine, which may have just one curve or primary and secondary compensatory curves and be fixed or mobile.
Learning Disabilities - A disorder in the basic cognitive and psychological processes involved in using language or performing mathematical calculations, affecting persons of normal intelligence, and not the result of emotional disturbance or impairment of sight or hearing. Also called learning disorder.
Freckling in the underarm or groin area
Delayed or early puberty
Short Stature
Severe Itching


Balance Dysfunction - A state of unstable bodily equilibrium.
Tinnitus –Ringing in the ears.
Meningioma(s) - A slow-growing tumor of the meninges often creating pressure and damaging the brain and adjacent tissues, occurring most often in adults.
Acoustic neuroma - Benign tumor of the eighth cranial nerve (balance nerve) that can cause hearing impairment, balance problems, and deafness. In NF-2, vestibular Schwannomas form on both acoustic nerves; therefore, it is bilateral.
Glioma - A tumor that originates in the neuralgia of the brain or the spinal cord.
Schwannoma(s) - A moderately firm, benign, nonencapsulated tumor that results from the disorderly proliferation of Schwann cells and that includes portions of nerve fibers. Also called fibroneuroma, neurofibroma.
Juvenile Cortical Cataract(s)
Glaucoma - Any of a group of eye diseases characterized by abnormally high intraocular fluid pressure, damaged optic disk, hardening of the eyeball, and partial to complete loss of vision.
Seizures - A sudden attack, spasm, or convulsion, as in epilepsy or another disorder.
Hearing impaired - A reduction or defect in the ability to perceive sound.
Visually impaired - A reduction or defect in the ability of visual sight.