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Disease Profile

Ollier disease

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000

3,310 - 29,790

US Estimated

1-9 / 100 000

5,135 - 46,215

Europe Estimated

Age of onset

Adolescent

ICD-10

Q78.4

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Dyschondroplasia; Enchondromatosis; Multiple cartilaginous enchondroses;

Categories

Congenital and Genetic Diseases; Musculoskeletal Diseases; Rare Cancers

Summary

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.[1][2][3][4] 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.[1][2][4] Symptoms often appear in the first decade of life. The underlying cause of Ollier disease is not fully understood.[5] In many people, the condition can be attributed to somatic mutations in the IDH1 or IDH2 gene. The disease is not typically inherited. Treatment is conservative in most cases, although surgery may be indicated in cases where complications (pathological fractures, growth defects, malignant transformation) arise.[4][5]

Symptoms

The signs and symptoms in Ollier disease may be present at birth, but most often appear in the first decade of life. The first symptom may be the appearance of multiple bony masses (swellings) on a finger or a toe, an asymmetric shortening of an extremity with limping, or skeletal deformities which may be associated with an underlying fracture. Enchondromas typically occur in the limb bones, especially the bones of the hands and feet. Other bones that may be affected include the tibia, femur, fibula, humerus, pelvis, skull, ribs, and vertebrae.[1][5] 

The enchondromas may affect multiple bones and are usually asymmetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. In some, bone shortening may be the only observable symptom. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in joint mobility and muscle development.[1][5] 

In some cases, malignant transformation may occur.[1][5] Chondrosarcomas are the most common malignancy arising from Ollier disease; occurring in up to 25% of patients by age 40. Pain, increasing size, and thinning of the cortical bone may be signs of malignant transformation.[5] Individuals with Ollier disease may also be at an increased risk for cancers of the ovaries and liver.[1]

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the metaphysis
Abnormality of the wide portion of a long bone
0000944
Micromelia
Smaller or shorter than typical limbs
0002983
Multiple enchondromatosis
0005701
Osteolysis
Breakdown of bone
0002797
Visceral angiomatosis
0100761
30%-79% of people have these symptoms
Bone pain
0002653
Joint stiffness
Stiff joint
Stiff joints

[ more ]

0001387
Subcutaneous nodule
Firm lump under the skin
Growth of abnormal tissue under the skin

[ more ]

0001482
5%-29% of people have these symptoms
Abnormality of coagulation
0001928
Anemia
Low number of red blood cells or hemoglobin
0001903
Chondrosarcoma
0006765
Lymphangioma
0100764
Platyspondyly
Flattened vertebrae
0000926
Precocious puberty
Early onset of puberty
Early puberty

[ more ]

0000826
Skin ulcer
Open skin sore
0200042
Venous thrombosis
Blood clot in vein
0004936
Percent of people who have these symptoms is not available through HPO
Abnormality of long bone morphology
Abnormal shape of long bone
0011314
Autosomal dominant inheritance
0000006
Hemangioma
Strawberry mark
0001028

Cause

The cause of Ollier disease is not completely understood. Typically, Ollier disease is caused by mutations in one of three genes (PTH1R, IDH1, or IDH2). In most cases, Ollier disease is not inherited from a parent. Instead, the genetic mutations that are causing the symptoms of Ollier disease occur during a person’s lifetime (somatic mutations) and are only present in some cells of the body. This is called mosaicism. The cells that have the mutation are the cells where the enchondromas develop.[1]

For some people, Ollier disease is inherited from a parent, and the gene mutation that is causing the disease is present in every cell of the body. In cases where Ollier disease is inherited, the disease may appear to skip a generation. Symptoms may be present in a grandparent, for example, but not in the parent of the affected child. This is called reduced penetrance because some people who have the mutation that causes Ollier disease do not have any symptoms.[6]

Diagnosis

Ollier disease is typically diagnosed based on a clinical examination that matches symptoms of Ollier disease. This exam might include using CT scans, MRIs, or X-rays to view the bones more clearly.[2] Biopsies of the enchondromas are also used to look for features that are characteristic of Ollier disease.[5] 

Treatment

Treatment for Ollier disease depends on how much the enchondromas are impacting the physical abilities of the affected individual. In some cases, surgery or joint replacement might be an option to correct some of the enchondromas. However, sometimes surgery causes more enchondromas to develop, so doctors may choose to perform surgery only if absolutely necessary.[5] Other treatment options include physical therapy.[2] The goals of treatment are to relieve any pain caused by the enchondromas and to allow the affected individual to walk with a normal gait.[5]

Organizations

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.

Social Networking Websites

Learn more

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.

Where to Start

  • Genetics Home Reference (GHR) contains information on Ollier disease. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Ollier disease. Click on the link to view a sample search on this topic.

References

  1. Ollier disease. Genetics Home Reference (GHR). February 2016; https://ghr.nlm.nih.gov/condition/ollier-disease.
  2. Ollier Disease. National Organization for Rare Disorders (NORD). 2006; https://rarediseases.org/rare-diseases/ollier-disease/.
  3. Chew FS. Enchondroma and Enchondromatosis. Medscape. December 28, 2015; https://emedicine.medscape.com/article/389224-overview.
  4. Silve C, Juppner H. Ollier disease. Orphanet Journal of Rare Diseases. 2006; 1:37:https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-37.
  5. Kumar A, Jain VK, Bharadwaj M, Arya RK. Ollier Disease: Pathogenesis, Diagnosis, and Management.. Orthopedics. 2015 Jun; 38(6):e497-506. https://www.ncbi.nlm.nih.gov/pubmed/26091223.
  6. Enchondromatosis, Multiple, Ollier Type. Online Mendelian Inheritance in Man (OMIM). May 2, 2016; https://omim.org/entry/166000.

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