National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Familial osteochondritis dissecans


Other Names:
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
Categories:
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 familial osteochondritis dissecans); in these cases, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene and is inherited in an autosomal dominant manner.[3] Treatment for the condition varies depending on many factors, including the age of the affected person and the severity of the symptoms, but may include rest; casting or splinting; surgery and/or physical therapy.[2][4]
Last updated: 2/8/2015
The signs and symptoms of osteochondritis dissecans vary from person to person. If the piece of cartilage and bone remain close to where they detached, they may not cause any symptoms. However, affected people may experience the following if the cartilage and bone travel into the joint space:[1][2][4]
  • 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]
Last updated: 2/6/2015

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.

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Medical Terms Other Names
Learn More:
HPO ID
1%-4% of people have these symptoms
Brachydactyly
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
Autosomal dominant inheritance 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
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Waddling gait
'Waddling' gait
Waddling walk
[ more ] 		0002515
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Last updated: 7/1/2020
In most cases, the exact underlying cause of osteochondritis dissecans is not completely understood. Scientists suspect that it may be due to decreased blood flow to the end of the affected bone, which may occur when repetitive episodes of minor injury and/or stress damage a bone overtime.[4]

In some families, osteochondritis dissecans is caused by changes (mutations) in the ACAN gene. In these cases, which are referred to as familial osteochondritis dissecans, the condition generally affects multiple joints and is also associated with short stature and early-onset osteoarthritis. The ACAN gene encodes a protein that is important to the structure of cartilage. Mutations in this gene weaken cartilage, which leads to the various signs and symptoms of familial osteochondritis disssecans.[3]
Last updated: 2/8/2015
A diagnosis of osteochondritis dissecans is usually suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis. These test may include x-rays, magnetic resonance imaging (MRI) and/or computed tomography (CT scan).[1][2]

For more information about the diagnosis of osteochondritis dissecans, please click here.
Last updated: 2/8/2015

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.
The primary aim of treatment for osteochondritis dissecans is to restore normal function of the affected joint, relieve pain and prevent osteoarthritis. Treatment for the condition varies depending on many factors including the age of the affected person and the severity of the symptoms. In children and young teens, osteochondritis dissecans often heals overtime without surgical treatment. These cases are often managed with rest and in some cases, crutches and/or splinting to relieve pain and swelling.[1][2][4]

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, physical therapy is often necessary to improve the strength and range of motion of the affected joint.[1][2][4]
Last updated: 2/8/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Familial osteochondritis dissecans. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

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.
  • Genetics Home Reference (GHR) contains information on Familial osteochondritis dissecans. This website is maintained by the National Library of Medicine.
  • The Mayo Clinic Web site provides further information on Familial osteochondritis dissecans.
  • 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.

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  1. Osteochondritis dissecans. Mayo Clinic. September 2012; http://www.mayoclinic.org/diseases-conditions/osteochondritis-dissecans/basics/symptoms/con-20024803.
  2. Osteochondritis Dissecans. American Academy of Orthopaedic Surgeons. March 2012; http://orthoinfo.aaos.org/topic.cfm?topic=A00610.
  3. Familial osteochondritis dissecans. Genetics Home Reference. October 2012; http://ghr.nlm.nih.gov/condition/familial-osteochondritis-dissecans.
  4. Grant Cooper, MD. Osteochondritis Dissecans. Medscape Reference. May 2014; http://emedicine.medscape.com/article/1253074-overview#a0112.