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Equinovarus deformity

MedGen UID:
1636532
Concept ID:
C4551566
Anatomical Abnormality
Synonyms: Equinovarus; Equinovarus foot deformity
SNOMED CT: Equinovarus deformity of foot (249808002)
 
HPO: HP:0008110

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Equinovarus deformity

Conditions with this feature

DE SANCTIS-CACCHIONE SYNDROME
MedGen UID:
75550
Concept ID:
C0265201
Disease or Syndrome
A rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities.
Rolland-Debuqois syndrome
MedGen UID:
98145
Concept ID:
C0432209
Disease or Syndrome
The dyssegmental dysplasias are lethal forms of neonatal short-limbed dwarfism. Handmaker et al. (1977) coined the term 'dyssegmental dysplasia' because of the marked differences in size and shape of the vertebral bodies (anisospondyly), which he attributed to errors in segmentation. Fasanelli et al. (1985) proposed that there are different forms of dyssegmental dwarfism, a lethal Silverman-Handmaker type (224410) and a less severe Rolland-Desbuquois type. The Rolland-Desbuquois form is lethal in about 40% of patients. Although many patients survive beyond the newborn period, all exhibit neonatal distress (summary by Hennekam et al., 2010).
Arthrogryposis-severe scoliosis syndrome
MedGen UID:
373169
Concept ID:
C1836756
Disease or Syndrome
Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Charcot-Marie-Tooth disease, axonal, mitochondrial form, 1
MedGen UID:
1731194
Concept ID:
C5435765
Disease or Syndrome
Mitochondrial form of axonal Charcot-Marie-Tooth disease-1 (CMTMA1) is inherited only through the maternal line. The disorder is characterized by onset of distal muscle weakness and atrophy mainly affecting the lower limbs and resulting in difficulty walking in the second decade of life, although both earlier and later onset can occur. Upper limb involvement often develops with time, and affected individuals have weakness and atrophy of the intrinsic hand muscles. Other features may include distal sensory impairment, foot deformities, scoliosis, hypo- or hyperreflexia, spastic paraparesis, and neurogenic bladder. Electrophysiologic studies are compatible with an axonal sensorimotor peripheral neuropathy, and muscle and nerve biopsy show evidence of mitochondrial dysfunction with decreased activities of respiratory complexes, mtDNA deletions, and mitochondrial hyperplasia (summary by Fay et al., 2020).

Professional guidelines

PubMed

Powers NS, Brandao RA, St John JM, Burns PR
J Foot Ankle Surg 2020 Mar-Apr;59(2):431-435. doi: 10.1053/j.jfas.2018.11.036. PMID: 32131017
Hernigou P
Int Orthop 2017 Nov;41(11):2407-2414. Epub 2017 Sep 6 doi: 10.1007/s00264-017-3629-5. PMID: 28879606
Foley N, Murie-Fernandez M, Speechley M, Salter K, Sequeira K, Teasell R
Eur J Neurol 2010 Dec;17(12):1419-27. doi: 10.1111/j.1468-1331.2010.03084.x. PMID: 20491885

Recent clinical studies

Etiology

Du H, He XT, Yin XH, Gu JM, Zhou YX, Yang J, Wu Y
Foot Ankle Int 2023 Jan;44(1):62-70. Epub 2022 Dec 20 doi: 10.1177/10711007221138240. PMID: 36537749
Sevencan A, Akdogan A, Ucpunar H, Ozyalvac ON, Akpinar E, Bayhan AI
Foot Ankle Int 2022 Oct;43(10):1346-1353. Epub 2022 Jun 14 doi: 10.1177/10711007221104076. PMID: 35699522
Keenan MA
Foot Ankle Clin 2011 Sep;16(3):499-514. doi: 10.1016/j.fcl.2011.07.002. PMID: 21925364
Bibbo C, Jaglan SS
Foot Ankle Clin 2011 Sep;16(3):401-18. doi: 10.1016/j.fcl.2011.07.001. PMID: 21925358
Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C, Hoare B, Toy M, Churchyard A
Clin Orthop Relat Res 2005 Jan;(430):138-41. doi: 10.1097/01.blo.0000150339.74041.0e. PMID: 15662315

Diagnosis

Sevencan A, Akdogan A, Ucpunar H, Ozyalvac ON, Akpinar E, Bayhan AI
Foot Ankle Int 2022 Oct;43(10):1346-1353. Epub 2022 Jun 14 doi: 10.1177/10711007221104076. PMID: 35699522
Van Rysselberghe NL, Souder CD, Mubarak SJ
J Pediatr Orthop B 2020 Jul;29(4):370-374. doi: 10.1097/BPB.0000000000000668. PMID: 31503103
Bibbo C, Jaglan SS
Foot Ankle Clin 2011 Sep;16(3):401-18. doi: 10.1016/j.fcl.2011.07.001. PMID: 21925358
Datta V, Sinha A, Saili A, Nangia S
Indian J Pediatr 2005 May;72(5):441-2. doi: 10.1007/BF02731745. PMID: 15973030
Lawrence SJ, Botte MJ
Foot Ankle Int 1994 Jun;15(6):340-6. doi: 10.1177/107110079401500610. PMID: 8075766

Therapy

Johnson DB Jr, Marfo KA, Zochowski CG, Berend KR, Lombardi AV Jr
Orthopedics 2021 Jul-Aug;44(4):e556-e562. Epub 2021 Jul 1 doi: 10.3928/01477447-20210618-17. PMID: 34292814
Karakkattil P Pt Ms, Trudelle-Jackson E Pt PhD, Brown HH Dpt, Hammontree P Dpt, Okolo M Dpt
Physiother Theory Pract 2017 May;33(5):410-419. Epub 2017 May 8 doi: 10.1080/09593985.2017.1318420. PMID: 28481738
Keam SJ, Muir VJ, Deeks ED
Drugs 2011 May 28;71(8):1043-58. doi: 10.2165/11206340-000000000-00000. PMID: 21668041
Foley N, Murie-Fernandez M, Speechley M, Salter K, Sequeira K, Teasell R
Eur J Neurol 2010 Dec;17(12):1419-27. doi: 10.1111/j.1468-1331.2010.03084.x. PMID: 20491885
Delatycki MB, Holian A, Corben L, Rawicki HB, Blackburn C, Hoare B, Toy M, Churchyard A
Clin Orthop Relat Res 2005 Jan;(430):138-41. doi: 10.1097/01.blo.0000150339.74041.0e. PMID: 15662315

Prognosis

El-Sherbini MH, Omran AA
J Foot Ankle Surg 2015 Nov-Dec;54(6):1093-8. Epub 2015 Sep 7 doi: 10.1053/j.jfas.2015.07.004. PMID: 26359619
Keenan MA
Foot Ankle Clin 2011 Sep;16(3):499-514. doi: 10.1016/j.fcl.2011.07.002. PMID: 21925364
Bibbo C, Jaglan SS
Foot Ankle Clin 2011 Sep;16(3):401-18. doi: 10.1016/j.fcl.2011.07.001. PMID: 21925358
Loren GJ, Karpinski NC, Mubarak SJ
J Pediatr Orthop 1998 Nov-Dec;18(6):765-9. PMID: 9821133
Kling TF Jr, Kaufer H, Hensinger RN
J Bone Joint Surg Am 1985 Feb;67(2):186-94. PMID: 3968108

Clinical prediction guides

Du H, He XT, Yin XH, Gu JM, Zhou YX, Yang J, Wu Y
Foot Ankle Int 2023 Jan;44(1):62-70. Epub 2022 Dec 20 doi: 10.1177/10711007221138240. PMID: 36537749
Sevencan A, Akdogan A, Ucpunar H, Ozyalvac ON, Akpinar E, Bayhan AI
Foot Ankle Int 2022 Oct;43(10):1346-1353. Epub 2022 Jun 14 doi: 10.1177/10711007221104076. PMID: 35699522
Sharma A, Cherian RJ, Pandey RA, Khatter H, Paul R, John B
J Foot Ankle Surg 2022 Jul-Aug;61(4):719-725. Epub 2021 Nov 15 doi: 10.1053/j.jfas.2020.10.017. PMID: 34893424
Nonnekes J, Kamps M, den Boer J, van Duijnhoven H, Lem F, Louwerens JWK, Keijsers N, Geurts ACH
J Neuroeng Rehabil 2019 Aug 2;16(1):102. doi: 10.1186/s12984-019-0572-2. PMID: 31375133Free PMC Article
Wada A, Nakamura T, Urano N, Kubota H, Oketani Y, Taketa M, Fujii T
J Pediatr Orthop B 2015 Mar;24(2):147-53. doi: 10.1097/BPB.0000000000000149. PMID: 25622236

Recent systematic reviews

Foley N, Murie-Fernandez M, Speechley M, Salter K, Sequeira K, Teasell R
Eur J Neurol 2010 Dec;17(12):1419-27. doi: 10.1111/j.1468-1331.2010.03084.x. PMID: 20491885

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