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) |
| Abnormality of the helix | 90% |
| Abnormality of the pulmonary valve | 90% |
| Aplasia/Hypoplasia of the abdominal wall musculature | 90% |
| Cafe-au-lait spot | 90% |
| Cognitive impairment | 90% |
| Hypertelorism | 90% |
| Hypertrophic cardiomyopathy | 90% |
| Low-set, posteriorly rotated ears | 90% |
| Ptosis | 90% |
| Short stature | 90% |
| Webbed neck | 90% |
| Abnormality of coagulation | 50% |
| Abnormality of the lymphatic system | 50% |
| Abnormality of the thorax | 50% |
| Cryptorchidism | 50% |
| Feeding difficulties in infancy | 50% |
| Lisch nodules | 5% |
| Autosomal dominant inheritance | - |
| Axillary freckling | - |
| Cubitus valgus | - |
| Delayed speech and language development | - |
| Depressed nasal bridge | - |
| Epicanthus | - |
| Inguinal freckling | - |
| Low posterior hairline | - |
| Low-set ears | - |
| Macrocephaly | - |
| Malar flattening | - |
| Midface retrusion | - |
| Muscle weakness | - |
| Neurofibromas | - |
| Optic glioma | - |
| Pectus excavatum of inferior sternum | - |
| Posteriorly rotated ears | - |
| Prominent nasolabial fold | - |
| Pulmonic stenosis | - |
| Scoliosis | - |
| Secundum atrial septal defect | - |
| Short neck | - |
| Specific learning disability | - |
| 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.
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
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.
