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Multiple epiphyseal dysplasia 3(EDM3)

MedGen UID:
322091
Concept ID:
C1832998
Disease or Syndrome
Synonyms: COL9A3-Related Multiple Epiphyseal Dysplasia; EDM3
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Autosomal dominant inheritance refers to genetic conditions that occur when a mutation is present in one copy of a given gene (i.e., the person is heterozygous).
 
Gene: COL9A3
Cytogenetic location: 20q13.33
OMIM: 600969

Disease characteristics

Excerpted from the GeneReview: Multiple Epiphyseal Dysplasia, Dominant
Autosomal dominant multiple epiphyseal dysplasia (MED) presents early in childhood, usually with pain in the hips and/or knees after exercise. Affected children complain of fatigue with long-distance walking. Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. Pain and joint deformity progress, resulting in early-onset osteoarthritis, particularly of the large weight-bearing joints.  [from GeneReviews]
Full text of GeneReview (by section):
Summary  |  Diagnosis  |  Clinical Description  |  Differential Diagnosis  |  Management  |  Genetic Counseling  |  Resources  |  Molecular Genetics  |  References  |  Chapter Notes
Authors:
Michael D Briggs  |  Michael J Wright  |  Geert R Mortier   view full author information

Additional descriptions

From OMIM
Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996). For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (132400).  http://www.omim.org/entry/600969
From GHR
Multiple epiphyseal dysplasia is a disorder of cartilage and bone development primarily affecting the ends of the long bones in the arms and legs (epiphyses). There are two types of multiple epiphyseal dysplasia, which can be distinguished by their pattern of inheritance. Both the dominant and recessive types have relatively mild signs and symptoms, including joint pain that most commonly affects the hips and knees, early-onset arthritis, and a waddling walk. Although some people with multiple epiphyseal dysplasia have mild short stature as adults, most are of normal height. The majority of individuals are diagnosed during childhood; however, some mild cases may not be diagnosed until adulthood. Recessive multiple epiphyseal dysplasia is distinguished from the dominant type by malformations of the hands, feet, and knees and abnormal curvature of the spine (scoliosis). About 50 percent of individuals with recessive multiple epiphyseal dysplasia are born with at least one abnormal feature, including an inward- and upward-turning foot (clubfoot), an opening in the roof of the mouth (cleft palate), an unusual curving of the fingers or toes (clinodactyly), or ear swelling. An abnormality of the kneecap called a double-layered patella is also relatively common.  http://ghr.nlm.nih.gov/condition/multiple-epiphyseal-dysplasia

Clinical features

Abnormality of the hip joint
MedGen UID:
425041
Concept ID:
CN001266
Finding
An abnormality of the `hip joint` (FMA:35178).
Short metacarpal
MedGen UID:
429479
Concept ID:
CN008884
Finding
Diminished length of one or more metacarpal bones in relation to the others of the same hand or to the contralateral metacarpal.
Elevated serum creatine phosphokinase
MedGen UID:
505493
Concept ID:
CN002923
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Proximal muscle weakness
MedGen UID:
505578
Concept ID:
CN003345
Finding
A lack of strength of the proximal muscles.

Recent clinical studies

Etiology

Morales-Piga A, Alonso-Ferreira V, Villaverde-Hueso A, Posada de la Paz M, López-Abente G
Am J Med Genet A 2013 Jul;161A(7):1555-60. Epub 2013 May 17 doi: 10.1002/ajmg.a.35929. [Epub ahead of print] PMID: 23687076
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. [Epub ahead of print] PMID: 21922596Free PMC Article
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH
Acta Orthop 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032. PMID: 19995321Free PMC Article
Cho TJ, Choi IH, Chung CY, Yoo WJ, Park MS, Lee DY
J Pediatr Orthop 2009 Jan-Feb;29(1):52-6. doi: 10.1097/BPO.0b013e3181901c4d. PMID: 19098647
Lim SJ, Park YS, Moon YW, Jung SM, Ha HC, Seo JG
J Arthroplasty 2009 Jan;24(1):77-82. Epub 2007 Jan 22 doi: 10.1016/j.arth.2006.01.012. [Epub ahead of print] PMID: 18534387

Diagnosis

Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. [Epub ahead of print] PMID: 21922596Free PMC Article
Taketomi S, Hiraoka H, Nakagawa T, Miyamoto Y, Kuribayashi S, Fukuda A, Takeda H, Fukai A, Hirota J, Nakajima K, Haga N, Nakamura K
J Orthop Sci 2012 Jul;17(4):507-11. Epub 2011 May 11 doi: 10.1007/s00776-011-0096-5. [Epub ahead of print] PMID: 21559955
Karaer K, Rosti RO, Torun D, Sanal HT, Bahçe M, Güran S
Turk J Pediatr 2011 May-Jun;53(3):346-51. PMID: 21980822
Dahlqvist J, Orlén H, Matsson H, Dahl N, Lönnerholm T, Gustavson KH
Acta Orthop 2009 Dec;80(6):711-5. doi: 10.3109/17453670903473032. PMID: 19995321Free PMC Article
Lim SJ, Park YS, Moon YW, Jung SM, Ha HC, Seo JG
J Arthroplasty 2009 Jan;24(1):77-82. Epub 2007 Jan 22 doi: 10.1016/j.arth.2006.01.012. [Epub ahead of print] PMID: 18534387

Therapy

Günther CM, Komm M, Jansson V, Heimkes B
J Pediatr Orthop 2013 Jun;33(4):353-60. doi: 10.1097/BPO.0b013e3182812194. PMID: 23653021
Linglart A, Fryssira H, Hiort O, Holterhus PM, Perez de Nanclares G, Argente J, Heinrichs C, Kuechler A, Mantovani G, Leheup B, Wicart P, Chassot V, Schmidt D, Rubio-Cabezas Ó, Richter-Unruh A, Berrade S, Pereda A, Boros E, Muñoz-Calvo MT, Castori M, Gunes Y, Bertrand G, Bougnères P, Clauser E, Silve C
J Clin Endocrinol Metab 2012 Dec;97(12):E2328-38. Epub 2012 Oct 5 doi: 10.1210/jc.2012-2326. [Epub ahead of print] PMID: 23043190
Bober MB, Niiler T, Duker AL, Murray JE, Ketterer T, Harley ME, Alvi S, Flora C, Rustad C, Bongers EM, Bicknell LS, Wise C, Jackson AP
Am J Med Genet A 2012 Nov;158A(11):2719-25. Epub 2012 Jul 20 doi: 10.1002/ajmg.a.35447. [Epub ahead of print] PMID: 22821869
Jackson GC, Mittaz-Crettol L, Taylor JA, Mortier GR, Spranger J, Zabel B, Le Merrer M, Cormier-Daire V, Hall CM, Offiah A, Wright MJ, Savarirayan R, Nishimura G, Ramsden SC, Elles R, Bonafe L, Superti-Furga A, Unger S, Zankl A, Briggs MD
Hum Mutat 2012 Jan;33(1):144-57. Epub 2011 Oct 31 doi: 10.1002/humu.21611. [Epub ahead of print] PMID: 21922596Free PMC Article
Büyükgebiz A, Kovanlikaya I
Turk J Pediatr 1993 Jul-Sep;35(3):189-96. PMID: 8165752

Prognosis

Cho TJ, Choi IH, Chung CY, Yoo WJ, Park MS, Lee DY
J Pediatr Orthop 2009 Jan-Feb;29(1):52-6. doi: 10.1097/BPO.0b013e3181901c4d. PMID: 19098647
Lim SJ, Park YS, Moon YW, Jung SM, Ha HC, Seo JG
J Arthroplasty 2009 Jan;24(1):77-82. Epub 2007 Jan 22 doi: 10.1016/j.arth.2006.01.012. [Epub ahead of print] PMID: 18534387
Mostert AK, Dijkstra PF, Jansen BR, van Horn JR, de Graaf B, Heutink P, Lindhout D
Am J Med Genet A 2003 Aug 1;120A(4):490-7. doi: 10.1002/ajmg.a.20034. PMID: 12884427
Spayde EC, Joshi AP, Wilcox WR, Briggs M, Cohn DH, Olsen BR
Matrix Biol 2000 May;19(2):121-8. PMID: 10842095
Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
Proc Natl Acad Sci U S A 2000 Feb 1;97(3):1212-7. PMID: 10655510Free PMC Article

Clinical prediction guides

Lim SJ, Park YS, Moon YW, Jung SM, Ha HC, Seo JG
J Arthroplasty 2009 Jan;24(1):77-82. Epub 2007 Jan 22 doi: 10.1016/j.arth.2006.01.012. [Epub ahead of print] PMID: 18534387
Hatori M, Watanabe S, Kokubun S
Arch Orthop Trauma Surg 2000;120(7-8):372-5. PMID: 10968521
Spayde EC, Joshi AP, Wilcox WR, Briggs M, Cohn DH, Olsen BR
Matrix Biol 2000 May;19(2):121-8. PMID: 10842095
Bönnemann CG, Cox GF, Shapiro F, Wu JJ, Feener CA, Thompson TG, Anthony DC, Eyre DR, Darras BT, Kunkel LM
Proc Natl Acad Sci U S A 2000 Feb 1;97(3):1212-7. PMID: 10655510Free PMC Article
Paassilta P, Lohiniva J, Annunen S, Bonaventure J, Le Merrer M, Pai L, Ala-Kokko L
Am J Hum Genet 1999 Apr;64(4):1036-44. PMID: 10090888Free PMC Article

Recent systematic reviews

Kim SJ, Pierce W, Sabharwal S
Acta Orthop 2014 Apr;85(2):181-6. doi: 10.3109/17453674.2014.899856. PMID: 24650027Free PMC Article
Salenave S, Boyce AM, Collins MT, Chanson P
J Clin Endocrinol Metab 2014 Jun;99(6):1955-69. Epub 2014 Feb 11 doi: 10.1210/jc.2013-3826. [Epub ahead of print] PMID: 24517150Free PMC Article
DaCambra MP, Gupta SK, Ferri-de-Barros F
Clin Orthop Relat Res 2014 Apr;472(4):1251-9. Epub 2013 Oct 22 doi: 10.1007/s11999-013-3345-4. [Epub ahead of print] PMID: 24146360Free PMC Article
Zaltz I, Baca G, Clohisy JC
Clin Orthop Relat Res 2013 Jul;471(7):2192-8. doi: 10.1007/s11999-012-2765-x. PMID: 23288586Free PMC Article
Montalbetti L, Soragna D, Ratti MT, Bini P, Buscone S, Moglia A
Funct Neurol 2004 Jul-Sep;19(3):171-9. PMID: 15595711

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