| Multiple epiphyseal dysplasia | |
|---|---|
| Classification and external resources | |
| ICD-9 | 756.56 |
| OMIM | 132400 226900 |
| DiseasesDB | 30716 |
| MeSH | D010009 |
Fairbanks disease or multiple epiphyseal dysplasia (MED) is a rare genetic disorder (dominant form—1 in 10,000 births) which affects the growing ends of bones. Bones usually elongate by a process that involves the depositing of cartilage at the ends of the bones, called ossification. This cartilage then mineralizes and hardens to become bone. In MED, this process is defective.
Contents |
Inheritance
Multiple epiphyseal dysplasia (MED) encompasses a spectrum of skeletal disorders, most of which are inherited in an autosomal dominant form. However, there is also an autosomal recessive form.
Associated genes include COL9A2, COL9A3, COMP, and MATR3.[1]
Presentation
Children with autosomal dominant MED experience joint pain and fatigue after exercising. Their x-rays show small and irregular ossifications centers, most apparent in the hips and knees. A waddling gait may develop. The spine is normal but may have a few irregularities. By adulthood, people with MED are of short stature or in the low range of normal and have short limbs relative to their trunk. Frequently, movement becomes limited at the major joints, especially at the elbows. However, loose knee and finger joints can occur. Signs of osteoarthritis usually begin in early adulthood.
Children with recessive MED also experience joint pain, particularly of the hips and knees, but they also commonly have deformities of the hands, feet, knees, and/or vertebral column (like scoliosis). Approximately 50% of affected children have abnormal findings at birth (i.e. club foot, cleft palate, inward curving fingers due to underdeveloped bones, or rarely, ear swelling). Height is within the normal range prior to puberty. As adults, people with recessive MED are only slightly more diminished in stature but still within the normal range. Functional disabilities of the joints are mild or absent.
Treatment
Although there is no cure, surgery is sometimes used to relieve symptoms.[2] However, surgery is not always necessary or appropriate.[3]
Famous people with this condition
References
- ^ Czarny-Ratajczak M, Lohiniva J, Rogala P, et al. (November 2001). "A mutation in COL9A1 causes multiple epiphyseal dysplasia: further evidence for locus heterogeneity". Am. J. Hum. Genet. 69 (5): 969–80. doi:. PMID 11565064. PMC 1274373. http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)61313-5.
- ^ Trehan R, Dabbas N, Allwood D, Agarwal M, Kinmont C (2008). "Arthroscopic decompression and notchplasty for long-standing anterior cruciate ligament impingement in a patient with multiple epiphyseal dysplasia: a case report". J Med Case Reports 2: 172. doi:. PMID 18498631. PMC 2412893. http://www.jmedicalcasereports.com/content/2//172.
- ^ Bajuifer S, Letts M (April 2005). "Multiple epiphyseal dysplasia in children: beware of overtreatment!". Can J Surg 48 (2): 106–9. PMID 15887789. http://www.cma.ca/multimedia/staticContent/HTML/N0/l2/cjs/vol-48/issue-2/pdf/pg106.pdf.
- ^ Leibovitch, Mark (March 14, 2002). "The True Measure of a Man". The Washington Post. Archived from the original on April 23, 2003. http://www.shortsupport.org/News/0296.html. Retrieved November 8, 2008.
External links
- Explanation of Multiple Epiphysial Dysplasia (MED), also known as Fairbanks disease
- GeneReview/NIH/UW entry on Multiple Epiphyseal Dysplasia, Dominant
- Explanation of Multiple Epiphyseal Dysplasia (MED)
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