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Epiphyseal dysplasia, multiple, 6(EDM6)

MedGen UID:
436517
Concept ID:
C2675767
Disease or Syndrome
Synonym: COL9A1-Related Multiple Epiphyseal Dysplasia
 
Gene (location): COL9A1 (6q13)
 
Monarch Initiative: MONDO:0013591
OMIM®: 614135

Disease characteristics

Autosomal dominant multiple epiphyseal dysplasia (MED) presents in early 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]
Authors:
Michael D Briggs  |  Michael J Wright  |  Geert R Mortier   view full author information

Additional description

From MedlinePlus Genetics
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.  https://medlineplus.gov/genetics/condition/multiple-epiphyseal-dysplasia

Clinical features

From HPO
Arthralgia
MedGen UID:
13917
Concept ID:
C0003862
Sign or Symptom
Joint pain.
Knee pain
MedGen UID:
65421
Concept ID:
C0231749
Sign or Symptom
An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) localized to the knee.
Abnormality of the knee
MedGen UID:
871199
Concept ID:
C4025676
Anatomical Abnormality
An abnormality of the knee joint or surrounding structures.
Arthralgia of the hip
MedGen UID:
5556
Concept ID:
C0019559
Sign or Symptom
Joint pain affecting the hip.
Multiple epiphyseal dysplasia
MedGen UID:
6461
Concept ID:
C0026760
Congenital Abnormality
A rare group of primary bone dysplasia disorders characterized by the association of epiphyseal anomalies of long bones causing joint pain early in life, recurrent osteochondritis and early arthrosis. This group contains an heterogeneous group of diseases with variable expression. Common reported clinical signs include waddling gait and pain at onset, and moderate short stature. Some forms are mainly limited to the femoral epiphyses, while several other syndromes are characterized by the association of multiple epiphyseal dysplasia with other clinical manifestations such as myopia, deafness and facial dysmorphism. Diagnosis relies on identification of the radiological features.
Osteoarthritis
MedGen UID:
45244
Concept ID:
C0029408
Disease or Syndrome
Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to Osteoarthritis Susceptibility to osteoarthritis has been associated with variation in other genes: OS2 (140600) with variation in the MATN3 gene (602109) on chromosome 2p24; OS3 (607850) with variation in the ASPN gene (608135) on chromosome 9q22; and OS5 (612400) with variation in the GDF5 gene (601146) on chromosome 20q11. Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4; 610839) and 3p24 (OS6; 612401).
Intervertebral disk calcification
MedGen UID:
451050
Concept ID:
C0410607
Disease or Syndrome
The presence of abnormal calcium deposition of the intervertebral disk.
Schmorl node
MedGen UID:
98380
Concept ID:
C0410632
Finding
A Schmorl's node is the herniation of nucleus pulposus through the cartilaginous and bony end plate into the body of the adjacent vertebra.
Irregular vertebral endplates
MedGen UID:
331233
Concept ID:
C1842153
Finding
An irregular surface of the vertebral end plates, which are normally relatively smooth.
Flat capital femoral epiphysis
MedGen UID:
334001
Concept ID:
C1842155
Finding
An abnormal flattening of the proximal epiphysis of the femur.
Irregular epiphyses
MedGen UID:
337584
Concept ID:
C1846449
Finding
An alteration of the normally smooth contour of the epiphysis leading to an irregular appearance.
Small epiphyses
MedGen UID:
339612
Concept ID:
C1846803
Finding
Reduction in the size or volume of epiphyses.
Flat distal femoral epiphysis
MedGen UID:
867240
Concept ID:
C4021599
Anatomical Abnormality
An abnormal flattening of the distal epiphysis of femur.
Irregular distal femoral epiphysis
MedGen UID:
870601
Concept ID:
C4025050
Anatomical Abnormality
Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.

Professional guidelines

PubMed

Yang J, Serino J, Olsen AS, Berger RA, Della Valle CJ
Knee 2021 Jun;30:106-112. Epub 2021 Apr 20 doi: 10.1016/j.knee.2021.03.019. PMID: 33887621

Recent clinical studies

Etiology

Lindgren AM, Bomar JD, Upasani VV, Wenger DR
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Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
El-Lababidi N, Zikánová M, Baxová A, Nosková L, Leiská A, Lambert L, Honzík T, Zeman J
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Vanlommel J, Vanlommel L, Molenaers B, Simon JP
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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

Diagnosis

Wu X, Hao C, Ling M, Jin Z, Sun Z, Chang Y, Liu S, Yi Z, Zhu Z
Int Orthop 2023 Mar;47(3):781-791. Epub 2022 Nov 8 doi: 10.1007/s00264-022-05616-6. PMID: 36348088
Lindgren AM, Bomar JD, Upasani VV, Wenger DR
J Pediatr Orthop B 2022 Nov 1;31(6):554-559. Epub 2022 May 3 doi: 10.1097/BPB.0000000000000982. PMID: 35502749
Li LY, Zhao Q, Ji SJ, Zhang LJ, Li QW
Orthopedics 2011 May 18;34(5):352. doi: 10.3928/01477447-20110317-03. PMID: 21598888
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
Le Goff C, Cormier-Daire V
Pediatr Endocrinol Rev 2009 Mar;6(3):418-23. PMID: 19396027

Therapy

Chang YY, Lee CC, Lin SC, Kuo KN, Chang JF, Wu KW, Wang TM
Orphanet J Rare Dis 2023 Oct 30;18(1):340. doi: 10.1186/s13023-023-02920-1. PMID: 37904148Free PMC Article
Lindgren AM, Bomar JD, Upasani VV, Wenger DR
J Pediatr Orthop B 2022 Nov 1;31(6):554-559. Epub 2022 May 3 doi: 10.1097/BPB.0000000000000982. PMID: 35502749
Yang J, Serino J, Olsen AS, Berger RA, Della Valle CJ
Knee 2021 Jun;30:106-112. Epub 2021 Apr 20 doi: 10.1016/j.knee.2021.03.019. PMID: 33887621
Raggio CL, Yonko EA, Khan SI, Carter EM, Citron KP, Bostrom MPG, Figgie MP
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Uçar A, Aydemir Y, Doğan A, Tunçez E
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Prognosis

Vanlommel J, Vanlommel L, Molenaers B, Simon JP
Orthop Traumatol Surg Res 2018 May;104(3):301-305. Epub 2017 Dec 21 doi: 10.1016/j.otsr.2017.11.014. PMID: 29274861
Akhmedov B, Sung KH, Chung CY, Lee KM, Park MS
Clin Orthop Relat Res 2012 Dec;470(12):3566-76. Epub 2012 Sep 5 doi: 10.1007/s11999-012-2548-4. PMID: 22948526Free 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. PMID: 18534387
Trigui M, Pannier S, Finidori G, Padovani JP, Glorion C
J Pediatr Orthop 2008 Sep;28(6):599-606. doi: 10.1097/BPO.0b013e3181831ec8. PMID: 18724194
Bajuifer S, Letts M
Can J Surg 2005 Apr;48(2):106-9. PMID: 15887789Free PMC Article

Clinical prediction guides

Wu X, Hao C, Ling M, Jin Z, Sun Z, Chang Y, Liu S, Yi Z, Zhu Z
Int Orthop 2023 Mar;47(3):781-791. Epub 2022 Nov 8 doi: 10.1007/s00264-022-05616-6. PMID: 36348088
Liang H, Hou Y, Pang Q, Jiang Y, Wang O, Li M, Xing X, Zhu H, Xia W
Calcif Tissue Int 2022 Mar;110(3):313-323. Epub 2021 Oct 28 doi: 10.1007/s00223-021-00920-6. PMID: 34709441
Andrzejewski A, Péjin Z, Finidori G, Badina A, Glorion C, Wicart P
J Pediatr Orthop 2021 Feb 1;41(2):e135-e140. doi: 10.1097/BPO.0000000000001708. PMID: 33165262
Vanlommel J, Vanlommel L, Molenaers B, Simon JP
Orthop Traumatol Surg Res 2018 May;104(3):301-305. Epub 2017 Dec 21 doi: 10.1016/j.otsr.2017.11.014. PMID: 29274861
Hatori M, Watanabe S, Kokubun S
Arch Orthop Trauma Surg 2000;120(7-8):372-5. doi: 10.1007/pl00013764. PMID: 10968521

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