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 temperature regulation | 90% |
| Anorexia | 90% |
| Arthritis | 90% |
| Hypermelanotic macule | 90% |
| Nausea and vomiting | 90% |
| Recurrent pharyngitis | 90% |
| Abdominal pain | 50% |
| Abnormality of the aortic valve | 50% |
| Abnormality of the endocardium | 50% |
| Abnormality of the mitral valve | 50% |
| Abnormality of the myocardium | 50% |
| Arrhythmia | 50% |
| Arthralgia | 50% |
| Chest pain | 50% |
| Chorea | 50% |
| Pallor | 50% |
| Sinusitis | 50% |
| Abnormality of the pericardium | 7.5% |
| Abnormality of the pleura | 7.5% |
| Aplasia/Hypoplasia of the abdominal wall musculature | 7.5% |
| Behavioral abnormality | 7.5% |
| Constipation | 7.5% |
| Epistaxis | 7.5% |
| Gait disturbance | 7.5% |
| Hemiballismus | 7.5% |
| Migraine | 7.5% |
| Nephrotic syndrome | 7.5% |
| Neurological speech impairment | 7.5% |
| Respiratory insufficiency | 7.5% |
| Abnormality of the immune system | - |
| Fever | - |
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.
Workshop on Stem Cell Therapy for Rheumatic and Autoimmune Disease Friday, September 11, 1998
Location: NIH Campus,
Bethesda,
MD
Contact: Ms. Joanne Odenkirchen(301) 594-5055
Co-funding Institute(s): National Institute of Arthritis and Musculoskeletal and Skin Diseases
