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 face||-|
|Autosomal recessive inheritance||-|
|Decreased CSF homovanillic acid||-|
|Feeding difficulties in infancy||-|
|Muscular hypotonia of the trunk||-|
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.
The Tenth International Catecholamine Symposium (XICS)
Sunday, September 9, 2012 -
Thursday, September 13, 2012
Location: Ailomar Conference Grounds, Pacific Grove, CA
Description: The Tenth International Catecholamine Symposium (XICS) will emphasize integration of basic science with clinical pathophysiology, by a program centering on disease-oriented research about catecholamine systems. The goals of the XICS are to: disseminate the latest important basic scientific, disease-oriented, and patient-oriented medical advances about catecholamines; foster interactions among basic scientists, disease-oriented researchers, and clinical investigators, via common interests in catecholamine systems; emphasize integrative approaches for understanding the roles of catecholamines in cellular, organ, systemic, and organismic integrity; comprehensively update research on catecholamines in rare and common disorders of development in pediatrics, regulation in adults, and degeneration in the elderly; and foster synthesis of molecular genetics with integrative physiology and pathophysiology, based on evolving understanding of catecholamine systems.
Contact: Constantine Stratakis, M.D., NICHD(301) email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research