Ollier disease is a rare skeletal disorder characterized by abnormal bone development (skeletal dysplasia). While this disorder may be present at birth (congenital); it may not become apparent until early childhood when symptoms, such as deformities or improper limb growth, are more obvious. Ollier disease 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 (metaphyses). The pelvis is often involved; and even more rarely, the ribs, breast bone (sternum), and/or skull may also be affected.

Ollier disease manifests as greater than normal growth of the cartilage in the long bones of the legs and arms so that growth is abnormal and the outer layer (cortical bone) of the bone becomes thin and more fragile. These masses of cartilage are benign (non-cancerous) tumors known as enchondromas. Enchondromas may occur at anytime. After puberty these growths stabilize as cartilage is replaced by bone. In rare cases, the enchondromas may undergo malignant changes (e.g., chondrosarcomas). The exact cause of Ollier disease is not known, although in some cases it may be inherited as an autosomal dominant genetic trait.

When the enchondromas of Ollier Disease are accompanied by substantial, most often benign, proliferation of blood vessels (hemangiomas), the array of symptoms is known as Maffucci Syndrome.

Multiple cartilaginous enchondroses are a skeletal disorder characterized by multiple enchondromas, which are noncancerous (benign) growths of cartilage that develop within the bones. These may lead to bone deformities, limb discrepancy, and fractures.

1. The enchondromas mainly occur in the limbs, especially the bones of the hands and feet. During the growth period, they tend to develop at the ends of the bones, where growth occurs.
2. Symptoms often appear in the first 10 years of an individual's life. The underlying cause of multiple cartilaginous enchondroses diseases is not fully understood.
3. In a few people, the condition can be attributed to somatic genetic changes in the IDH1 or IDH2 gene. The disease is not typically inherited.
4. Age of onset refers to the typical age at which a disease first manifests its symptoms.
5. For some diseases, the age of onset might vary, and a doctor may use this information to make a diagnosis. Individuals may experience various variations of these symptoms.
6. Symptoms can range from moderate to severe, and some people may experience them more frequently than others. Any cartilage morphological defect.
7. A deviation from normal blood coagulation. Specifically, the blood's altered or diminished capacity to clot. Malformation of one or more metaphyses, the part of a long bone that is slightly broader and grows during childhood next to the epiphyseal growth plate.
8. Decrease in the volume or hemoglobin concentration of erythrocytes.

Symptoms
Abnormal cartilage morphology,Abnormality of coagulation,Abnormality of the metaphysis
Conditions
Anemia,Lymphangioma
Drugs
Surgery

A rare skeletal illness called Multiple cartilaginous enchondroses disease is characterized by improper bone growth (skeletal dysplasia). While this illness may be congenitally present at birth, it may not show symptoms until early childhood, when deformities or abnormal limb growth are more visible. The long bones and cartilage of the joints in the arms and legs, particularly the region where the shaft and head of a long bone meet, are the main targets of Multiple cartilaginous enchondroses diseases.

1. Multiple cartilaginous enchondroses disease's underlying etiology is unknown.
2. This illness and Maffucci syndrome have both been linked to changes (mutations) in the IDH1, IDH2, and PTHR1 genes.
3. The mutations are brought on by somatic mosaicism, which implies that only some of the body's cells—not all of them—have the mutation.
4. Only the enchondromas exhibit the mutation in Multiple cartilaginous enchondroses illnesses.
5. Multiple cartilaginous enchondroses diseases have not been inherited and all instances to date have been sporadic in their families.
6. However, in theory, the disorder might be handed down through an autosomal dominant pattern if a gene mutation is found in the egg or sperm (germline).
7. When a disease may be brought on by a single defective copy of a gene, this condition is known as a dominant genetic disorder.
8. The defective gene may have developed by de novo mutation in the affected person or may have been inherited from either parent.
9.Each pregnancy carries a 50% chance of transferring the dysfunctional gene from an affected parent to the fetus. Both men and women are at the same level of danger.

Symptoms
Abnormal cartilage morphology,Abnormality of coagulation,Abnormality of the metaphysis
Conditions
Anemia,Lymphangioma
Drugs
Surgery

Multiple cartilaginous enchondroses illnesses do not necessarily have symptoms at birth, although these frequently appear during early infancy. Arms and legs frequently grow abnormally and/or slowly between the ages of one and four years. Both legs and/or arms may be afflicted, however typically just one leg and/or arm is. If both legs are damaged, small stature may ensue; if just one leg is affected, a limp may be present.

Multiple cartilaginous enchondroses diseases also prevent healthy bone formation (ossification). In those with this disease, fractures frequently occur and typically heal successfully. Ollier disease has been linked to the emergence of specific types of malignant bone growths in some patients.

1. Multiple cartilaginous enchondroses diseases can be identified via bone biopsy, x-rays, magnetic resonance imaging (MRI), and internal body image recording (tomography).
2. Medical professionals should routinely examine those who are affected by malignant alterations in the bones and joints (e.g., chondrosarcoma).
3. The affected limbs have benefited from surgical treatment. In extreme circumstances, artificial (prosthetic) joint replacement may be required.
4. Fractures usually heal without any issues.
5. For kids with Multiple cartilaginous enchondroses illnesses, a supportive team approach may be helpful.
6. Physical therapy and other medical, social, or vocational services may be provided as part of this team approach.
7. Other medical care is supportive and symptomatic.

Symptoms
Abnormal cartilage morphology,Abnormality of coagulation,Abnormality of the metaphysis
Conditions
Anemia,Lymphangioma
Drugs
Surgery

Multiple cartilaginous enchondroses illnesses do not necessarily have symptoms at birth, although these frequently appear during early infancy. Arms and legs frequently grow abnormally and/or slowly between the ages of one and four years. Both legs and/or arms may be afflicted, however typically just one leg and/or arm is. If both legs are damaged, small stature may ensue; if just one leg is affected, a limp may be present.

1. Multiple cartilaginous enchondroses diseases also prevent healthy bone formation (ossification).
2. In those with this disease, fractures frequently occur and typically heal successfully.
3. Multiple cartilaginous enchondroses diseases have been linked to the emergence of specific types of malignant bone growths in some patients.
4. The condition is thought to affect 1 in 100,000 people. Multiple cartilaginous enchondroses illnesses is a fairly uncommon condition that equally affects men and women.
5. Children are typically the ones who show symptoms, while adults and teenagers might also experience them.
6. All races may be affected by this condition.
7. Gliomas and adolescent granulosa cell tumors are two more uncommon problems that may develop.
8. A specific kind of brain tumor known as gliomas grows inside the brain tissue itself and is also known as an intra-axial brain tumor.
9. A rare form of ovarian cancer called juvenile granulosa cell tumor (JGCT) has a good prognosis if detected early.

Symptoms
Abnormal cartilage morphology,Abnormality of coagulation,Abnormality of the metaphysis
Conditions
Anemia,Lymphangioma
Drugs
Surgery