Enchondromatosis, Multiple, Ollier Type (ENCHOM)

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MedlinePlus Genetics: ⁴² Ollier disease is a disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths most commonly occur in the limb bones, especially in the bones of the hands and feet; however, they may also occur in the skull, ribs, and bones of the spine (vertebrae). Enchondromas may result in severe bone deformities, shortening of the limbs, and fractures.The signs and symptoms of Ollier disease may be detectable at birth, although they generally do not become apparent until around the age of 5. Enchondromas develop near the ends of bones, where normal growth occurs, and they frequently stop forming after affected individuals stop growing in early adulthood. As a result of the bone deformities associated with Ollier disease, people with this disorder generally have short stature and underdeveloped muscles.Although the enchondromas associated with Ollier disease start out as benign, they may become cancerous (malignant). In particular, affected individuals may develop bone cancers called chondrosarcomas, especially in the skull. People with Ollier disease also have an increased risk of other cancers, such as ovarian cancer or liver cancer.People with Ollier disease usually have a normal lifespan, and intelligence is unaffected. The extent of their physical impairment depends on their individual skeletal deformities, but in most cases they have no major limitations in their activities.A related disorder called Maffucci syndrome also involves multiple enchondromas but is distinguished by the presence of red or purplish growths in the skin consisting of tangles of abnormal blood vessels (hemangiomas).

MalaCards based summary: Enchondromatosis, Multiple, Ollier Type, also known as enchondromatosis, is related to exostoses, multiple, type i and hereditary multiple osteochondromas, and has symptoms including pain An important gene associated with Enchondromatosis, Multiple, Ollier Type is IDH1 (Isocitrate Dehydrogenase (NADP(+)) 1), and among its related pathways/superpathways are Signal Transduction and Presynaptic function of Kainate receptors. The drug Isotretinoin has been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are micromelia and visceral angiomatosis

GARD: ¹⁹ Ollier disease is a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These growths may lead to skeletal deformities, limb discrepancy, and fractures. The enchondromas primarily occur in the limb bones, especially the bones of the hands and feet. They tend to develop near the ends of the bones, where growth occurs. Symptoms often appear in the first decade of life. The underlying cause of Ollier disease is not fully understood. In many people, the condition can be attributed to somatic genetic changes in the IDH1 or IDH2 gene. The disease is not typically inherited.

OMIM®: ⁵⁷ Enchondromas are common benign cartilage tumors of bone. They can occur as solitary lesions or as multiple lesions in enchondromatosis. When hemangiomata are associated, the condition is known as Maffucci syndrome (614569). Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma (Schwartz et al., 1987). (166000) (Updated 08-Dec-2022)

Disease Ontology: ¹¹ A syndrome that is characterized by an asymmetric distribution of cartilagenous tumors, which may lead to skeletal deformities and limb-length discrepancy. This condition primarily affects the long bones and cartilage of the joints of the arms and legs, specifically the area where the shaft and head of a long bone meet.

UniProtKB/Swiss-Prot: ⁷³ A condition characterized by multiple formation of enchondromas, benign neoplasms derived from mesodermal cells that form cartilage. Enchondromas remain within the substance of a cartilage or bone. Clinical problems caused by enchondromas include skeletal deformity and the potential for malignant change to osteosarcoma.

Orphanet: ⁵⁸ A rare primary bone dysplasia disorder characterized by the development of multiple mainly unilateral or asymmetrically distributed enchondromas throughout the metaphyses of the long bones.

Wikipedia ⁷⁵ Enchondromatosis: Enchondromatosis is a form of osteochondrodysplasia characterized by a proliferation of... more...

Ollier disease: Ollier disease is a rare sporadic nonhereditary skeletal disorder in which typically benign... more...

Clinical features from OMIM®:

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