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 heart valves||90%|
|Abnormality of the pulmonary artery||90%|
|Aplasia/Hypoplasia of the eyebrow||90%|
|Atria septal defect||90%|
|Coarse facial features||90%|
|Long palpebral fissure||90%|
|Neurological speech impairment||90%|
|Underdeveloped supraorbital ridges||90%|
|Abnormality of the eyelashes||50%|
|Abnormality of the fingernails||50%|
|Abnormality of the ulna||50%|
|Deep palmar crease||50%|
|Depressed nasal bridge||50%|
|Hypoplasia of the zygomatic bone||50%|
|Low posterior hairline||50%|
|Low-set, posteriorly rotated ears||50%|
|Abnormality of the abdominal organs||7.5%|
|Abnormality of the upper urinary tract||7.5%|
|Cerebral cortical atrophy||7.5%|
|Peripheral axonal neuropathy||5%|
|Anterior creases of earlobe||-|
|Aplasia/Hypoplasia of the corpus callosum||-|
|Autosomal dominant inheritance||-|
|Clinodactyly of the 5th finger||-|
|Delayed skeletal maturation||-|
|Failure to thrive||-|
|Feeding difficulties in infancy||-|
|Hyperextensibility of the finger joints||-|
|Hypoplasia of the frontal lobes||-|
|Multiple palmar creases||-|
|Multiple plantar creases||-|
|Optic nerve dysplasia||-|
|Posteriorly rotated ears||-|
|Progressive visual loss||-|
|Submucous cleft hard palate||-|
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.
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
Fifth International Conference on Pediatric Mechanical Circulatory Support Systems and Pediatric Cardiopulmonary Perfusion
Thursday, May 28, 2009 -
Saturday, May 30, 2009
Location: Hilton Anatole, Dallas, TX
Description: The main objective of this conference was to focus on the current problems associated with pediatric cardiac patients during and after acute or chronic cardiac support. At this conference, we brought together many distinguished physicians and scientists to define precisely the current problems and to suggest solutions with novel approaches.
Contact: Dr. Frank Evans, NHLBI301-402-2647
Co-funding Institute(s): National Heart, Lung, and Blood Institute
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