Frequency
Familial osteochondritis dissecans is a rare condition, although the prevalence is unknown. Sporadic osteochondritis dissecans is more common; it is estimated to occur in the knee in 15 to 29 per 100,000 individuals.
Causes
Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints.
The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage leads to the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers suggest that a disorganized cartilage network in growing bones impairs their normal growth, leading to short stature.
Sporadic osteochondritis dissecans is not caused by genetic changes and is not inherited.
Inheritance
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.
Other Names for This Condition
- FOCD
- OCD
- OD
- Osteochondritis dissecans, short stature, and early-onset osteoarthritis
Additional Information & Resources
Genetic and Rare Diseases Information Center
Patient Support and Advocacy Resources
Catalog of Genes and Diseases from OMIM
Scientific Articles on PubMed
References
- Andrew TA, Spivey J, Lindebaum RH. Familial osteochondritis dissecans and dwarfism. Acta Orthop Scand. 1981 Oct;52(5):519-23. doi: 10.3109/17453678108992141. Citation on PubMed
- Gentili C, Cancedda R. Cartilage and bone extracellular matrix. Curr Pharm Des. 2009;15(12):1334-48. doi: 10.2174/138161209787846739. Citation on PubMed
- Paes RA. Familial osteochondritis dissecans. Clin Radiol. 1989 Sep;40(5):501-4. doi: 10.1016/s0009-9260(89)80263-6. Citation on PubMed
- Stattin EL, Tegner Y, Domellof M, Dahl N. Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature. Osteoarthritis Cartilage. 2008 Aug;16(8):890-6. doi: 10.1016/j.joca.2007.11.009. Epub 2008 Jan 15. Citation on PubMed
- Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegard D, Aspberg A. A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet. 2010 Feb 12;86(2):126-37. doi: 10.1016/j.ajhg.2009.12.018. Epub 2010 Feb 4. Citation on PubMed or Free article on PubMed Central
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.