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.
|Signs and Symptoms||Approximate number of patients (when available)|
|Benign neoplasm of the central nervous system||90%|
|Neoplasm of the skin||90%|
|Attention deficit hyperactivity disorder||50%|
|Neurological speech impairment||50%|
|Slender long bone||50%|
|Specific learning disability||30%|
|Abnormality of the respiratory system||7.5%|
|Hypopigmented skin patches||7.5%|
|Limitation of joint mobility||7.5%|
|Neoplasm of the gastrointestinal tract||7.5%|
|Urinary tract neoplasm||7.5%|
|Renal artery stenosis||1.5%|
|Autosomal dominant inheritance||-|
|Intellectual disability, mild||-|
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. Suggest an organization to add.
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.
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
GARD Information Navigator
May 10, 2016
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) firstname.lastname@example.org
Co-funding Institute(s): National Institute of Neurological Disorders and Stroke, Office of Rare Diseases Research
International Meeting on Genetic Syndromes of the Ras/MAPK Pathway
Friday, July 29, 2011 -
Sunday, July 31, 2011
Location: The Westin O’Hare, Chicago, IL
Description: The ultimate goals of this meeting are to develop better medical management and establish novel therapies. The overall goal is to provide a forum for researchers, clinicians, physician-scientists, trainees, and affected persons/families to share and discuss basic science and clinical issues in order to set forth a solid framework for future research, translational applications directed toward therapy, and best practices for individuals with Ras/MAPK pathway syndromes.
Co-funding Institute(s): National Heart, Lung, and Blood Institute, Office of Rare Diseases Research
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My son was diagnosed with NF1 when he was really young. He recently went from always being hungry to not wanting to eat anything. Does NF1 cause tumors to grow inside or outside the stomach that would cause a huge appetite change? See answer
I am under alot of stress and have noticed more and more new tumors, and the older ones have increase in size, and some of them have changed color. Will stress increase the growth of tumors? See answer
Can my cafe au lait spots be removed with laser surgery? See answer
Is there a relationship between neurofibromatosis type 1 (NF1) and epilepsy or mood disorders? Also, do individuals with NF1 have a normal life expectancy? See answer
My son was diagnosed with NF1. At birth, doctors noticed his neck was shorter and his eyes and ears where tilted a bit. They ran some test and discovered that he is missing the whole gene instead of it just being mutated. His genetic doctor said he's never really seen this before and can't really tell me much about how it's going to affect my son. I was just wondering if you had any information on this gene being completely missing. See answer
I have neurofibromatosis type 1, and in the last couple of years I have developed severe skin itching. Do you think the itching has anything to do with NF1? See answer
My infant son has 5 cafe au lait spots on his trunk and left leg. He was adopted, so I don't know about family history. Is there a genetic test which can help to rule-out neurofibromatosis? See answer
I was recently diagnosed with neurofibromatosis type 1. Due to my mild symptoms, I believe that I may have segmental neurofibromatosis. Is there a test which can confirm this diagnosis? See answer
In neurofibromatosis type 1 does injury to a neurofibroma cause a growth increase in the nodule or any other problems? Should special precautions be taken to avoid damage to a neurofibroma? See answer
My son has what the doctor is calling fibromas on his legs that have been growing for about 2 years. Both legs have huge tumors on them and growing all the time. My son has been diagnosed with neurofibromatosis. My understanding is that there is no cure? See answer