- Multiple epiphyseal dysplasia
-
Multiple epiphyseal dysplasia Classification and external resources ICD-9 756.56 OMIM 132400 226900 DiseasesDB 30716 eMedicine article/1259038 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]
Types include:
Type OMIM Gene EDM1 132400 COMP EDM2 600204 COL9A2 EDM3 600969 COL9A3 EDM4 226900 DTDST EDM5 607078 MATN3 EDM6 120210 COL9A1 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]
Prominent 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:10.1086/324023. PMC 1274373. PMID 11565064. 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:10.1186/1752-1947-2-172. PMC 2412893. PMID 18498631. 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)
Osteochondrodysplasia (Q77–Q78, 756.4–756.5) Osteodysplasia/
osteodystrophySpondyloepiphyseal dysplasia congenita · Multiple epiphyseal dysplasia · Otospondylomegaepiphyseal dysplasiaOther/ungroupedFLNB (Boomerang dysplasia) · Opsismodysplasia · Polyostotic fibrous dysplasia (McCune-Albright syndrome)Chondrodysplasia/
chondrodystrophy
(including dwarfism)enchondromatosis (Ollier disease, Maffucci syndrome)Other dwarfismFibrochondrogenesis · Short rib-polydactyly syndrome (Majewski's polydactyly syndrome) · Léri-Weill dyschondrosteosisGenetic disorder, extracellular: scleroprotein disease (excluding laminin and keratin) Collagen disease COL1: Osteogenesis imperfecta · Ehlers–Danlos syndrome, types 1, 2, 7
COL2: Hypochondrogenesis · Achondrogenesis type 2 · Stickler syndrome · Marshall syndrome · Spondyloepiphyseal dysplasia congenita · Spondyloepimetaphyseal dysplasia, Strudwick type · Kniest dysplasia (see also C2/11)
COL3: Ehlers–Danlos syndrome, types 3 & 4 (Sack–Barabas syndrome)
COL4: Alport syndrome
COL5: Ehlers–Danlos syndrome, types 1 & 2
COL6: Bethlem myopathy · Ullrich congenital muscular dystrophy
COL7: Epidermolysis bullosa dystrophica · Recessive dystrophic epidermolysis bullosa · Bart syndrome · Transient bullous dermolysis of the newborn
COL8: Fuchs' dystrophy 1
COL9: Multiple epiphyseal dysplasia 2, 3, 6
COL10: Schmid metaphyseal chondrodysplasia
COL11: Weissenbacher–Zweymüller syndrome · Otospondylomegaepiphyseal dysplasia (see also C2/11)
COL17: Bullous pemphigoidLaminin Junctional epidermolysis bullosa · Laryngoonychocutaneous syndromeOther Congenital stromal corneal dystrophy · Raine syndrome · Urbach–Wiethe disease · TECTA (DFNA8/12, DFNB21)see also fibrous proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfkCategories:- Rare diseases
- Collagen disease
Wikimedia Foundation. 2010.
