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NF2-Related Schwannomatosis

Q: What is NF2-related schwannomatosis?

NF2 -related schwannomatosis is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with NF2 -related schwannomatosis are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on nerves in other areas of the brain or spinal cord are also commonly seen with this condition. The signs and symptoms of this condition usually appear during adolescence or in a person’s early twenties, although onset can occur at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop in other parts of the brain or spinal cord, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision or sensation, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with NF2 -related schwannomatosis also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

Q: How common is NF2-SWN?

Recent studies estimate that the incidence of NF2 -related schwannomatosis may be as high as 1 in 25,000 people.

Q: What genes are related to NF2-SWN?

Mutations in the NF2 -SWN gene on chromosome 22 cause NF2 -related schwannomatosis. The NF2 -SWN gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 -SWN gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of NF2 -related schwannomatosis. Read more about the NF2 -SWN gene.

Q: How do people inherit NF2-SWN?

NF2 -related schwannomatosis is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2 -SWN gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2 -SWN gene and occur in people with no history of the disorder in their family. Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2 -SWN gene must be altered to trigger tumor formation in NF2 -related schwannomatosis. A mutation in the second copy of the NF2 -SWN gene occurs in Schwann cells or other cells in the nervous system during a person’s lifetime. Almost everyone who is born with one NF2 -SWN mutation acquires a second mutation in many cells and develops the tumors characteristic of NF2 -related schwannomatosis.

Affecting approximately one in 25,000 people, NF2-Related schwannomatosis (NF2-SWN) is caused by a mutation in a gene on chromosome 22.

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NF2-Related Schwannomatosis

Frequently Asked Questions

What is NF2-related schwannomatosis?

NF2-related schwannomatosis is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with NF2-related schwannomatosis are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on nerves in other areas of the brain or spinal cord are also commonly seen with this condition.

The signs and symptoms of this condition usually appear during adolescence or in a person’s early twenties, although onset can occur at any age. The most frequent early symptoms of vestibular schwannomas are hearing loss, ringing in the ears (tinnitus), and problems with balance. In most cases, these tumors occur in both ears by age 30. If tumors develop in other parts of the brain or spinal cord, signs and symptoms vary according to their location. Complications of tumor growth can include changes in vision or sensation, numbness or weakness in the arms or legs, and fluid buildup in the brain. Some people with NF2-related schwannomatosis also develop clouding of the lens (cataracts) in one or both eyes, often beginning in childhood.

How common is NF2-SWN?

Recent studies estimate that the incidence of NF2-related schwannomatosis may be as high as 1 in 25,000 people.

What genes are related to NF2-SWN?

Mutations in the NF2-SWN gene on chromosome 22 cause NF2-related schwannomatosis.

The NF2-SWN gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2-SWN gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of NF2-related schwannomatosis.

How do people inherit NF2-SWN?

NF2-related schwannomatosis is considered to have an autosomal dominant pattern of inheritance. People with this condition are born with one mutated copy of the NF2-SWN gene in each cell. In about half of cases, the altered gene is inherited from an affected parent. The remaining cases result from new mutations in the NF2-SWN gene and occur in people with no history of the disorder in their family.

Unlike most other autosomal dominant conditions, in which one altered copy of a gene in each cell is sufficient to cause the disorder, two copies of the NF2-SWN gene must be altered to trigger tumor formation in NF2-related schwannomatosis. A mutation in the second copy of the NF2-SWN gene occurs in Schwann cells or other cells in the nervous system during a person’s lifetime. Almost everyone who is born with one NF2-SWN mutation acquires a second mutation in many cells and develops the tumors characteristic of NF2-related schwannomatosis.

What other names do people use for NF2-SWN?

BANF
Bilateral Acoustic Neurofibromatosis
Central Neurofibromatosis
Familial Acoustic Neuromas
Neurofibromatosis 2
Neurofibromatosis Type II
NF2
NF Type 2
Schwannoma, Acoustic, Bilateral

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named?.

What if I still have specific questions about NF2-SWN?

NF Midwest has a special group called the NF 2 Action Group (NF2ACT). This is a committee of people who have NF2 in the family and a vast amount of experience. Let us know if you would like us to put you in touch with them.

NF2-Related Schwannomatosis

Overall Care

About NF2-Related Schwannomatosis

Children's Tumor Foundation

Diagnosed with NF2-Related schwannomatosis

Children's Tumor Foundation | 2024

Diagnóstico de schwannomatosis relacionada con NF2

Children's Tumor Foundation | 2024

Understanding Neurofibromatosis Type 2 Booklet

NF Network

Neuromuscular Retraining for Facial Paralysis

NF Midwest Symposium and iNFo Fair | 2018
By Jackie Diels, OT

Review and chart of applications to support spoken communication and hearing loss

By Berner and Smart

Review of Apple apps to support hearing loss

Technology and NF2

NF Mid-Atlantic | 2013

Transcript of presentation

The Genetics of Neurofibromatosis-2 (webinar)

NF Network | 2013

In June of 2013, NF Network presented a captioned webinar "The Genetics of…

Possible Complications of NF2 Shown on BodySheet

NF2 Glossary

NF Midwest and the NF2 Crew

be iNFormed Series

Volumetric Measurement in Neurofibromatosis

NF Midwest | 2015
By Diana Haberkamp, reviewed by Eva Dombi, MD

Treatment

Facial Reanimation

NF Network | 2012

Neurofibromatosis Type 2 Imaging

MedScape

Patient Care Delivery at Northwestern

NF Midwest | 2011
By Dr. Andrew Fishman

Consensus Recommendations for Current Treatments and Accelerating Clinical Trials for Patients With Neurofibromatosis Type 2

American Journal of Medical Genetics | 2011

Support

Association for Late Deafened Adults

Can You Hear Us?

A self-help, support, and social advocacy group giving a voice to people with…

Acoustic Neuroma Association

NF2 Crew

Neurofibromatosis Type 2 support community

Hearing

Auditory Brain Implant (ABI) and Cochlear Implant (CI) (webinar)

NF Network By Dr. William Slattery, House Ear Institute, California

Watch a recording of the neurofibromatosis 2 webinar about Auditory Brain Implant (ABI) and…

Cochlear Implants in NF2

NF2 Crew | 2009
By Derald E. Brackmann, M.D. of the House Ear Institute

Eyes

Ocular Manifestations of Neurofibromatosis: Relief for Dry Eyes

NF Midwest | 2012
By Louise A. Sclafani, OD, FAAO

Symposium Transcript

Research

Laboratory Models of NF2-SWN Related Tumors and How They Inform Clinical Trials

2024 NF Midwest iNFo Fair (RECORDING) | 2024
By Matthias Karajannis, MD, MS

NF2 Research at Massachusetts General Hospital

NF Midwest Symposium Transcript | 2010
By Vijaya Ramesh, Ph.D

Research Update

NF Midwest | 2011
By Ashok R. Asthagiri, M.D.

HHS/NIH/NINDS Symposium Transcript

Identification and Development of Therapeutic Targets in Neurofibromatosis Type 2

NF Midwest | 2013
By Joseph Kissil

At NF Midwest's annual family symposium held on October 12, 2013, Dr. Joseph…

Research Advances in Neurofibromatosis Type 2

NF Network | 2013
By Ashok Asthagiri, M.D.

Mutations and Biological Behavior of NF2-Associated Schwannomas and Meningiomas and Potential Therapies

The Research Institute at Nationwide Children’s Hospital and Ohio State University College of Medicine Transcript | 2014
By Long-Sheng Chang, Phd

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