The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Developing Endpoints to Facilitate Clinical Trials in Rare Diseases
Tuesday, November 17, 2015 -
Friday, November 20, 2015
Location: Bethesda, MD
Description: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration holds a winter annual conference each year to develop and to discuss novel outcome measures for clinical trials of neurofibromatosis and schwannomatosis, a group of related tumor suppressor syndromes. The annual winter conference has been very successful in stimulating international collaboration among the many different specialists involved in the treatment of these rare conditions. The 2015 conference theme is to develop consensus-driven outcome measures for clinical trials in patients with rare disease such as neurofibromatosis and schwannomatosis.
Contact: Dr. Rashmi Gopal-Srivistava(301) 402-4336
Children's Tumor Foundation 2014 Neurofibromatosis (NF) Conference
Saturday, June 7, 2014 -
Tuesday, June 10, 2014
Location: Washington , D.C.
Description: In order to stimulate exchange between basic scientists and clinical investigators, a number of sessions will be organized to discuss preclinical models and findings side by side with clinical findings and current management in patients. The hope is that this exchange will promote the translation of preclinical findings into clinical trials. Moreover, invited speakers outside of the NF community will add to the scientific diversity and stimulate discussions and promote new collaborations.
Contact: Jill A. Morris, Ph.D.,(301) email@example.com
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
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I have a segmental neuromatosis/schwannomatosis. The last 10 years the pain has been constant and gradually becoming worse. The last six moths have been dreadful. I would like to know what treatments work for others with the same condition. I have read some research work, but it is never anything like what I have got. I believe that surgery can be done? How successful is this? What medication works the best? See answer