Familial osteochondritis dissecans
Última actualización 21 Mar 2023
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Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterised by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.
Descripción
Familial osteochondritis dissecans is a condition that affects the joints and is associated with abnormal cartilage. Cartilage is a tough but flexible tissue that covers the ends of the bones at joints and is also part of the developing skeleton. A characteristic feature of familial osteochondritis dissecans is areas of bone damage (lesions) caused by detachment of cartilage and a piece of the underlying bone from the end of the bone at a joint. People with this condition develop multiple lesions that affect several joints, primarily the knees, elbows, hips, and ankles. The lesions cause stiffness, pain, and swelling in the joint. Often, the affected joint feels like it catches or locks during movement. Other characteristic features of familial osteochondritis dissecans include short stature and development of a joint disorder called osteoarthritis at an early age. Osteoarthritis is characterised by the breakdown of joint cartilage and the underlying bone. It causes pain and stiffness and restricts the movement of joints.
A similar condition called sporadic osteochondritis dissecans is associated with a single lesion in one joint, most often the knee. These cases may be caused by injury to or repetitive use of the joint (often sports-related). Some people with sporadic osteochondritis dissecans develop osteoarthritis in the affected joint, especially if the lesion occurs later in life after the bone has stopped growing. Short stature is not associated with this form of the condition.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
FOCD
TOC
OD
Osteochondritis dissecans, short stature, and early-onset osteoarthritis
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Lecturas adicionales y referencias
- Familial osteochondritis dissecans; MedlinePlus, National Library of Medicine.
- Andrew TA, Spivey J, Lindebaum RH. Familial osteochondritis dissecans and dwarfism. Acta Orthop Scand. 1981 Oct;52(5):519-23. doi: 10.3109/17453678108992141.
- Gentili C, Cancedda R. Cartilage and bone extracellular matrix. Curr Pharm Des. 2009;15(12):1334-48. doi: 10.2174/138161209787846739.
- Paes RA. Familial osteochondritis dissecans. Clin Radiol. 1989 Sep;40(5):501-4. doi: 10.1016/s0009-9260(89)80263-6.
- 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.
- 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.
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