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Disease Profile
Familial osteochondritis dissecans
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.
Unknown
Age of onset
Childhood
ICD-10
M93.2
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
Categories
Congenital and Genetic Diseases; Musculoskeletal Diseases
Summary
Osteochondritis dissecans is a joint condition that occurs when a piece of cartilage and the thin layer of bone beneath it, separates from the end of the bone. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience pain, weakness and/or decreased range of motion in the affected joint if the cartilage and bone travel into the joint space. Although osteochondritis dissecans can affect people of all ages, it is most commonly diagnosed in people between the ages of 10 and 20 years.[1][2] In most cases, the exact underlying cause is unknown. Rarely, the condition can affect more than one family member (called
Symptoms
- Pain, swelling and/or tenderness
- Joint popping
- Joint weakness
- Decreased range of motion
Although osteochondritis dissecans can develop in any joint of the body, the knee, ankle and elbow are most commonly affected. Most people only develop the condition in a single joint.[2]
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
|
---|---|---|
1%-4% of people have these symptoms | ||
Short fingers or toes
|
0001156 | |
Broad hallux |
Broad big toe
Wide big toe
[ more ] |
0010055 |
Depressed nasal bridge |
Depressed bridge of nose
Flat bridge of nose
Flat nasal bridge
Flat, nasal bridge
Flattened nasal bridge
Low nasal bridge
Low nasal root
[ more ] |
0005280 |
Lumbar hyperlordosis |
Excessive inward curvature of lower spine
|
0002938 |
Midface retrusion |
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] |
0011800 |
Short thumb |
Short thumbs
Small thumbs
[ more ] |
0009778 |
Percent of people who have these symptoms is not available through HPO | ||
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
0000006 | ||
Exostoses |
Formation of new noncancerous bone on top of existing bone
|
0100777 |
Frontal bossing | 0002007 | |
Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
Hip osteoarthritis | 0008843 | |
Osteoarthritis |
Degenerative joint disease
|
0002758 |
Osteochondritis Dissecans | 0010886 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Waddling gait |
'Waddling' gait
Waddling walk
[ more ] |
0002515 |
Cause
In some families, osteochondritis dissecans is caused by changes (
Diagnosis
For more information about the diagnosis of osteochondritis dissecans, please click here.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
If non-surgical treatments are not successful or the case is particularly severe (i.e. the cartilage and bone are moving around within the joint space), surgery may be recommended. Following surgery,
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
- FamilyDoctor.org provides additional information about Familial osteochondritis dissecans. Click on the link above to access this information.
- The Mayo Clinic Web site provides further information on Familial osteochondritis dissecans.
- Genetics Home Reference (GHR) contains information on Familial osteochondritis dissecans. This website is maintained by the National Library of Medicine.
- The National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) support research into the causes, treatment, and prevention of arthritis and musculoskeletal and skin diseases, the training of basic and clinical scientists to carry out this research, and the dissemination of information on research progress in these diseases. Click on the link to view information on this topic.
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 Familial osteochondritis dissecans. Click on the link to view a sample search on this topic.
References
- Osteochondritis dissecans. Mayo Clinic. September 2012; https://www.mayoclinic.org/diseases-conditions/osteochondritis-dissecans/basics/symptoms/con-20024803.
- Osteochondritis Dissecans. American Academy of Orthopaedic Surgeons. March 2012; https://orthoinfo.aaos.org/topic.cfm?topic=A00610.
- Familial osteochondritis dissecans. Genetics Home Reference. October 2012; https://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans.
- Grant Cooper, MD. Osteochondritis Dissecans. Medscape Reference. May 2014; https://emedicine.medscape.com/article/1253074-overview#a0112.
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