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) |
| Bone pain | Very frequent (present in 80%-99% of cases) |
| Hyperostosis | Very frequent (present in 80%-99% of cases) |
| Osteomyelitis | Very frequent (present in 80%-99% of cases) |
| Abnormality of epiphysis morphology | Frequent (present in 30%-79% of cases) |
| Abnormality of the metaphysis | Frequent (present in 30%-79% of cases) |
| Abnormality of the vertebrae | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Craniofacial osteosclerosis | Frequent (present in 30%-79% of cases) |
| Edema | Frequent (present in 30%-79% of cases) |
| Elevated C-reactive |
Frequent (present in 30%-79% of cases) |
| Elevated |
Frequent (present in 30%-79% of cases) |
| Fatigue | Frequent (present in 30%-79% of cases) |
| Osteolysis | Frequent (present in 30%-79% of cases) |
| Poor appetite | Frequent (present in 30%-79% of cases) |
| Weight loss | Frequent (present in 30%-79% of cases) |
| Abnormality of the sacroiliac joint | Occasional (present in 5%-29% of cases) |
| Acne | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Cranial nerve paralysis | Occasional (present in 5%-29% of cases) |
| Fever | Occasional (present in 5%-29% of cases) |
| Inflammation of the large intestine | Occasional (present in 5%-29% of cases) |
| Palmoplantar pustulosis | Occasional (present in 5%-29% of cases) |
| Pruritus | Occasional (present in 5%-29% of cases) |
| Psoriasiform dermatitis | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Skin rash | Occasional (present in 5%-29% of cases) |
| Vasculitis | Occasional (present in 5%-29% of cases) |
| Abnormality of metabolism/homeostasis | - |
| Chronic recurrent multifocal osteomyelitis | - |
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.
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
August 10, 2017
Young Investigator Initiative Career Development and Grant Mentoring Program
June 21, 2016
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 son was diagnosed 2 years ago. At first he was doing good on his pain medication, but now he needs medicine before he can even get up as he can't move. Is there anything else that can treat his pain? See answer
