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) |
| Abdominal wall muscle weakness | Very frequent (present in 80%-99% of cases) |
| Abnormality of the helix | Very frequent (present in 80%-99% of cases) |
| Downslanted palpebral fissures | Very frequent (present in 80%-99% of cases) |
| Hypertelorism | Very frequent (present in 80%-99% of cases) |
| Hypertrophic |
Very frequent (present in 80%-99% of cases) |
| Low-set, posteriorly rotated ears | Very frequent (present in 80%-99% of cases) |
| Multiple cafe-au-lait spots | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Pulmonic stenosis | Very frequent (present in 80%-99% of cases) |
| Specific learning disability | Very frequent (present in 80%-99% of cases) |
| Webbed neck | Very frequent (present in 80%-99% of cases) |
| Abnormality of the |
Frequent (present in 30%-79% of cases) |
| Abnormality of the thorax | Frequent (present in 30%-79% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Prolonged bleeding time | Frequent (present in 30%-79% of cases) |
| Lisch nodules | Occasional (present in 5%-29% of cases) |
| - | |
| Axillary freckling | - |
| Cafe-au-lait spot | - |
| Cubitus valgus | - |
| Delayed speech and language development | - |
| Epicanthus | - |
| Inguinal freckling | - |
| Low posterior hairline | - |
| Low-set ears | - |
| Macrocephaly | - |
| Malar flattening | - |
| Midface retrusion | - |
| Neurofibromas | - |
| Optic glioma | - |
| Pectus excavatum of inferior sternum | - |
| Posteriorly rotated ears | - |
| Prominent nasolabial fold | - |
| - | |
| Secundum atrial septal defect | - |
| Short neck | - |
| Superior pectus carinatum | - |
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s 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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
2017 Million Dollar Bike Ride Pilot Grant Program
August 30, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
2016 Million Dollar Bike Ride Pilot Grant Program
August 15, 2016
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
The following diseases are related to Neurofibromatosis-Noonan syndrome. If you have a question about any of these diseases, you can contact GARD.
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.
