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 metaphyses||90%|
|Limitation of joint mobility||50%|
|Abnormality of coagulation||7.5%|
Research has shown that patients with numerous lesions may have a better prognosis than patients with localized cartilaginous changes, which may induce major shortening of a lower extremity and thus limb asymmetry. Similarly, early development of enchondromas in phalanges may lead to major finger deformities. As is generally the case, forms with an early onset appear more severe. After puberty, the enchondromas typically stabilize as cartilage is replaced by bone.
The most significant factors regarding prognosis in Ollier disease are related to the complications, most notably pathologic fracture and a small incidence of malignant transformation.
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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As an individual with Ollier disease, I have had difficulty locating information regarding the prognosis of this condition. What are the symptoms? What are the chances of developing cancer or malignant growths? What type of follow-up do I need as I age? See answer