The signs and symptoms of neurofibromatoses

A diagnosis of NF1 is usually made by age 4. It is the common form of neurofibromatosis, it is also known as Von Recklinghausen disease. The mutated gene causes a loss of merlin, leading to uncontrolled cell growth. NF1 and NF2 are both autosomal dominant disorders, which means that any child of a parent with the disorder has a 50 percent chance of inheriting the genetic mutation.

It's important to rule out the possibility of a cancerous tumor and to obtain appropriate treatment at an early stage. Schwannomatosis causes chronic pain, which can occur anywhere in your body.

Many children with NF1 have larger than normal head circumference and are shorter than average. The life expectancy of the patients suffering from the disorder depends on many factors. Optic glioma is abnormal growth of the cells on the optic nerve and plexiform neurofibroma is the tumor that involves multiple nerves.


An eye doctor can detect Lisch nodules and cataracts. The biggest risk factor for neurofibromatosis is a family history of the disorder. Since children with NF1 have a higher than average risk for learning disabilities, they should undergo a detailed neurological exam before they enter school.

What you can do Write down a list of concerns, making a note of when you first started having them. Learning and thinking difficulties are the most common neurological problem associated with NF1.

To diagnose NF2, a doctor looks for the following: Other symptoms of Type 1 NF include the following: It's a good idea to be well-prepared for your appointment. Symptoms can be relieved by removing all or part of tumors that are compressing nearby tissue or damaging organs.


A person with an autosomal dominant disorder — in this case, the father — has a 50 percent chance of having an affected child with one mutated gene dominant gene and a 50 percent chance of having an unaffected child with two normal genes recessive genes.

Symptoms of this type usually develop during adolescence or early adulthood.

Neurofibromatosis Fact Sheet

Write down a list of questions to ask your doctor. Learning and thinking difficulties are the most common neurological problem associated with NF1.

When did you first begin noticing signs or symptoms. Prospective donors may contact: For example, the patient can lead a normal life if treatment is effective on the symptoms but if the tumor develops that is not curable then things cannot be any positive. There is no currently accepted medical treatment or drug for schwannomatosis, but surgical management is often effective.

Tumors that affect both of the auditory nerves and hearing loss beginning in the teens or early twenties are generally the first symptom of NF2. Cardiovascular complications associated with NF1 include congenital heart defects, high blood pressure hypertensionand constricted, blocked, or damaged blood vessels vasculopathy.

Mainly, these disorders affect the growth and development of nerve cell tissue. Tissue from individuals with NF1 or NF2 is needed to enable scientists to study these disorders more effectively.

The Children's Tumor Foundation has an online tool to help you find a neurofibromatosis specialist in your area.

As tumors grow larger, it becomes harder to surgically preserve hearing and the auditory nerve. The most frequent first symptom is hearing loss or ringing in the ears tinnitus. Neurofibromatoses are genetic disorders of the nervous system. Neurofibromas on or under the skin can increase with age and cause cosmetic and psychological issues.

Join a support group for parents who care for children with neurofibromatosis, ADHD, special needs or chronic illnesses in general. Although many affected people inherit the disorder, between 30 and 50 percent of new cases result from a spontaneous genetic mutation of unknown cause. Occasionally in children, an optic glioma can develop, affecting vision.

The tumors are better known as the Schwannomas, usually the acoustic neuromas type, which leads to loss of hearing and dizziness. Pain usually subsides when tumors are removed completely, although it may recur should new tumors form. What to expect from your doctor Your doctor is likely to ask you a number of questions.

Symptoms of Neurofibromatosis (NF) Type 1. NF type 1 can affect many parts of the body. Most people with NF1 have some combination of these symptoms by age Be aware that this list is not diagnostic of NF1.

Only a physician can diagnose you with neurofibromatosis. Signs of Neurofibromatosis NF2 NF 2 is a rare form of the disorder, and symptoms typically appear between the ages of 18 and They may be present at birth, but too subtle to observe in young children. Signs of NF2 may be present in childhood but are so subtle that they can be overlooked, especially in children who don't have a family history of the disorder.

Neurofibromatosis (NF)

Typically, symptoms of NF2 are noticed between 18 and 22 years of age. Neurofibromatosis (NF) is a group of three conditions in which tumors grow in the nervous system.

Neurofibromatosis Signs & Symptoms

The three types are neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. In NF1 symptoms include light brown spots on the skin, freckles in the armpit and groin, small bumps within nerves, and scoliosis. In NF2 there may be hearing loss, cataracts at a young age.

Signs and Symptoms of Neurofibromatoses Type 2 Other signs and symptoms include pain and numbness in various areas of the face, balancing problems, frequent headaches and tinnitus.

All these are result of the pressure exerted by the tumor on the nerves. Neurofibromatosis can't be cured, but treatments are available for your signs and symptoms. Generally, the sooner you or your child is under the care of a doctor trained in treating neurofibromatosis, the better the outcome.

The signs and symptoms of neurofibromatoses
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Neurofibromatosis Fact Sheet | National Institute of Neurological Disorders and Stroke