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Congenital knee dislocation

MedGen UID:
75582
Concept ID:
C0265669
Congenital Abnormality
Synonyms: Congenital dislocation of knee; congenital knee dislocation; congenital knee dislocation (disease); Dislocated knee since birth
SNOMED CT: Congenital dislocation of knee (59068006)
 
HPO: HP:0005191
Monarch Initiative: MONDO:0017470
Orphanet: ORPHA295034

Definition

A rare congenital limb malformation characterized by either hyperextension of the knee greater than 0° associated with limited flexion (congenital genu recurvatum) or permanent knee flexion with limited extension (congenital genu flexum). It can be unilateral or bilateral and may occur as an isolated malformation, be associated with other orthopedic abnormalities (like developmental dysplasia of the hip or clubfoot), or be part of a syndrome (e. g. Larsen's syndrome, arthrogryposis multiplex congenita). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCongenital knee dislocation
Follow this link to review classifications for Congenital knee dislocation in Orphanet.

Conditions with this feature

Ehlers-Danlos syndrome, arthrochalasia type
MedGen UID:
1645042
Concept ID:
C4551623
Disease or Syndrome
Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008). Genetic Heterogeneity of Arthrochalasia-type Ehlers-Danlos Syndrome See EDSARTH2 (617821), caused by mutation in the COL1A2 gene (120160).

Professional guidelines

PubMed

Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Oetgen ME, Walick KS, Tulchin K, Karol LA, Johnston CE
J Pediatr Orthop 2010 Apr-May;30(3):216-23. doi: 10.1097/BPO.0b013e3181d48375. PMID: 20357585
Ferris B, Aichroth P
Clin Orthop Relat Res 1987 Mar;(216):135-40. PMID: 3815940

Recent clinical studies

Etiology

Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Patwardhan S, Shah K, Shyam A, Sancheti P
Int Orthop 2015 Aug;39(8):1587-92. Epub 2015 Jun 20 doi: 10.1007/s00264-015-2806-7. PMID: 26091933
Oetgen ME, Walick KS, Tulchin K, Karol LA, Johnston CE
J Pediatr Orthop 2010 Apr-May;30(3):216-23. doi: 10.1097/BPO.0b013e3181d48375. PMID: 20357585
Omololu B, Ogunlade SO, Alonge TO
West Afr J Med 2002 Oct-Dec;21(4):307-9. doi: 10.4314/wajm.v21i4.28006. PMID: 12665272
Nogi J, MacEwen GD
J Pediatr Orthop 1982;2(5):509-13. doi: 10.1097/01241398-198212000-00009. PMID: 7161385

Diagnosis

Qi B, Jie Q, Wang X, Lu Q, Su F, Yang Y
BMC Musculoskelet Disord 2024 Apr 24;25(1):327. doi: 10.1186/s12891-024-07316-1. PMID: 38658889Free PMC Article
Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Morales-Roselló J, Loscalzo G, Hueso-Villanueva M, Buongiorno S, Jakaitė V, Perales-Marín A
J Matern Fetal Neonatal Med 2022 Feb;35(4):809-811. Epub 2020 Mar 17 doi: 10.1080/14767058.2020.1731464. PMID: 32178562
Çıraklı S, Çıraklı A
Jt Dis Relat Surg 2021;32(2):542-545. Epub 2021 Jun 11 doi: 10.52312/jdrs.2021.79966. PMID: 34145837Free PMC Article
Sankar WN, Weiss J, Skaggs DL
J Am Acad Orthop Surg 2009 Feb;17(2):112-22. doi: 10.5435/00124635-200902000-00007. PMID: 19202124

Prognosis

Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Hickey SE, Koboldt DC, Mosher TM, Brennan P, Schmalz BA, Crist E, McBride KL, Adler BH, White P, Wilson RK
Cold Spring Harb Mol Case Stud 2019 Dec;5(6) Epub 2019 Dec 13 doi: 10.1101/mcs.a004176. PMID: 31836586Free PMC Article
Oetgen ME, Walick KS, Tulchin K, Karol LA, Johnston CE
J Pediatr Orthop 2010 Apr-May;30(3):216-23. doi: 10.1097/BPO.0b013e3181d48375. PMID: 20357585
Omololu B, Ogunlade SO, Alonge TO
West Afr J Med 2002 Oct-Dec;21(4):307-9. doi: 10.4314/wajm.v21i4.28006. PMID: 12665272
Ferris B, Aichroth P
Clin Orthop Relat Res 1987 Mar;(216):135-40. PMID: 3815940

Clinical prediction guides

Qi B, Jie Q, Wang X, Lu Q, Su F, Yang Y
BMC Musculoskelet Disord 2024 Apr 24;25(1):327. doi: 10.1186/s12891-024-07316-1. PMID: 38658889Free PMC Article
Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939
Faria TCC, Cavalheiro S, da Costa MDS, Dastoli PA, Azevedo Silva SL, Nicácio JM, Suriano IC, Barbosa MM, Moron AF
World Neurosurg 2021 May;149:e269-e273. Epub 2021 Feb 20 doi: 10.1016/j.wneu.2021.02.038. PMID: 33618046
Patwardhan S, Shah K, Shyam A, Sancheti P
Int Orthop 2015 Aug;39(8):1587-92. Epub 2015 Jun 20 doi: 10.1007/s00264-015-2806-7. PMID: 26091933
Oetgen ME, Walick KS, Tulchin K, Karol LA, Johnston CE
J Pediatr Orthop 2010 Apr-May;30(3):216-23. doi: 10.1097/BPO.0b013e3181d48375. PMID: 20357585

Recent systematic reviews

Cavoretto PI, Castoldi M, Corbella G, Forte A, Moharamzadeh D, Emedoli D, Candiani M, De Pellegrin M
Ultrasound Obstet Gynecol 2023 Dec;62(6):778-787. doi: 10.1002/uog.26283. PMID: 37289939

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