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Epiphyseal dysplasia, multiple, 7(EDM7)

MedGen UID:
1620874
Concept ID:
C4540251
Disease or Syndrome
Synonyms: EDM7; EPIPHYSEAL DYSPLASIA, MULTIPLE, 7
 
Gene (location): CANT1 (17q25.3)
 
Monarch Initiative: MONDO:0054680
OMIM®: 617719

Clinical features

From HPO
Genu varum
MedGen UID:
154257
Concept ID:
C0544755
Finding
A positional abnormality marked by outward bowing of the legs in which the knees stay wide apart when a person stands with the feet and ankles together.
Flat acetabular roof
MedGen UID:
373340
Concept ID:
C1837485
Finding
Flattening of the superior part of the acetabulum, which is a cup-shaped cavity at the base of the hipbone into which the ball-shaped head of the femur fits. The acetabular roof thereby appears horizontal rather than arched, as it normally does.
Advanced ossification of carpal bones
MedGen UID:
341422
Concept ID:
C1849292
Finding
Ossification of carpal bones at an abnormally early age.
Monkey wrench femoral neck
MedGen UID:
862736
Concept ID:
C4014299
Anatomical Abnormality
The femoral neck region shows medial metaphyseal beaking and a significant enlargement of the lesser trochanter (with some enlargement also of the greater trochanter), producing a monkey wrench (Swedish key) configuration of the proximal femur. A monkey wrench refers to a type of adjustable wrench with one fixed and one adjustable jaw at right angles to a straight handle.
Mild short stature
MedGen UID:
461427
Concept ID:
C3150077
Finding
A mild degree of short stature, more than -2 SD but not more than -3 SD from mean corrected for age and sex.
Vertebral wedging
MedGen UID:
120495
Concept ID:
C0264112
Anatomical Abnormality
An abnormal shape of the vertebral bodies whereby the vertebral bodies are thick on one side and taper to a thin edge at the other.
Epiphyseal dysplasia
MedGen UID:
95932
Concept ID:
C0392476
Congenital Abnormality
Short femoral neck
MedGen UID:
373033
Concept ID:
C1836184
Finding
An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft).
Hypoplasia of the capital femoral epiphysis
MedGen UID:
374176
Concept ID:
C1839254
Finding
Underdevelopment of the proximal epiphysis of the femur.
Platyspondyly
MedGen UID:
335010
Concept ID:
C1844704
Finding
A flattened vertebral body shape with reduced distance between the vertebral endplates.

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
Blask AR, Rubio EI, Chapman KA, Lawrence AK, Bulas DI
Pediatr Radiol 2018 Jul;48(7):979-991. Epub 2018 Mar 23 doi: 10.1007/s00247-018-4098-8. PMID: 29572747Free PMC Article

Recent clinical studies

Etiology

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
El-Lababidi N, Zikánová M, Baxová A, Nosková L, Leiská A, Lambert L, Honzík T, Zeman J
Prague Med Rep 2020;121(3):153-162. doi: 10.14712/23362936.2020.14. PMID: 33030144
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
Kim SJ, Ramanathan AK, Jeon YS, Song HR
J Pediatr Orthop B 2017 Nov;26(6):526-531. doi: 10.1097/BPB.0000000000000368. PMID: 27398645
Park KW, Kim JH, Sung S, Lee MY, Song HR
J Pediatr Orthop 2014 Oct-Nov;34(7):738-42. doi: 10.1097/BPO.0000000000000172. PMID: 25210941

Diagnosis

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
Rossi M, Hall CM, Bouvier R, Collardeau-Frachon S, Le Breton F, Bucourt M, Cordier MP, Vianey-Saban C, Parenti G, Andria G, Le Merrer M, Edery P, Offiah AC
Pediatr Radiol 2015 Jul;45(7):965-76. Epub 2015 Feb 3 doi: 10.1007/s00247-014-3257-9. PMID: 25646736
Park KW, Kim JH, Sung S, Lee MY, Song HR
J Pediatr Orthop 2014 Oct-Nov;34(7):738-42. doi: 10.1097/BPO.0000000000000172. PMID: 25210941
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. PMID: 21922596Free PMC Article
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

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
Patel H, Cichos KH, Moon AS, McGwin G Jr, Ponce BA, Ghanem ES
Orthop Traumatol Surg Res 2019 Nov;105(7):1297-1301. Epub 2019 Sep 18 doi: 10.1016/j.otsr.2019.06.013. PMID: 31542311
Uçar A, Aydemir Y, Doğan A, Tunçez E
Diabet Med 2016 Mar;33(3):e13-6. doi: 10.1111/dme.12968. PMID: 26433138

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
Park KW, Kim JH, Sung S, Lee MY, Song HR
J Pediatr Orthop 2014 Oct-Nov;34(7):738-42. doi: 10.1097/BPO.0000000000000172. PMID: 25210941
Seo SG, Song HR, Kim HW, Yoo WJ, Shim JS, Chung CY, Park MS, Oh CW, Jeong C, Song KS, Kim OH, Park SS, Choi IH, Cho TJ
BMC Musculoskelet Disord 2014 Mar 15;15:84. doi: 10.1186/1471-2474-15-84. PMID: 24629099Free PMC Article
Pavone V, Costarella L, Privitera V, Sessa G
J Arthroplasty 2009 Sep;24(6):868-72. Epub 2008 Sep 11 doi: 10.1016/j.arth.2008.06.023. PMID: 18789631
Andersen PE Jr, Schantz K, Bollerslev J, Justesen P
Acta Radiol 1988 Nov-Dec;29(6):705-9. PMID: 3190947

Clinical prediction guides

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
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
Kim SJ, Ramanathan AK, Jeon YS, Song HR
J Pediatr Orthop B 2017 Nov;26(6):526-531. doi: 10.1097/BPB.0000000000000368. PMID: 27398645
Park KW, Kim JH, Sung S, Lee MY, Song HR
J Pediatr Orthop 2014 Oct-Nov;34(7):738-42. doi: 10.1097/BPO.0000000000000172. PMID: 25210941

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