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 pulmonary artery||90%|
|Abnormality of the pulmonary valve||90%|
|Intrauterine growth retardation||90%|
|Sensorineural hearing impairment||90%|
|Abnormality of the mitral valve||50%|
|Abnormality of the nose||50%|
|Complete atrioventricular canal defect||50%|
|Low-set, posteriorly rotated ears||50%|
|Abnormal localization of kidney||7.5%|
|Abnormality of calvarial morphology||7.5%|
|Abnormality of the endocardium||7.5%|
|Abnormality of the voice||7.5%|
|Aplasia/Hypoplasia of the abdominal wall musculature||7.5%|
|Coronary artery disease||7.5%|
|Displacement of the external urethral meatus||7.5%|
|Spina bifida occulta||7.5%|
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.
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your 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.
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.
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 grandson has been diagnosed with LEOPARD syndrome. We have just noticed that his eyes are beginning to cross. Is this a sign also? See answer