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Familial clubfoot with or without associated lower limb anomalies

MedGen UID:
1843133
Concept ID:
C5680522
Congenital Abnormality
Synonym: familial clubfoot with or without associated lower limb anomalies
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Monarch Initiative: MONDO:0016046
Orphanet: ORPHA199315

Definition

Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial clubfoot with or without associated lower limb anomalies

Professional guidelines

PubMed

Cady R, Hennessey TA, Schwend RM
Pediatrics 2022 Feb 1;149(2) doi: 10.1542/peds.2021-055555. PMID: 35104362Free PMC Article
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article
Dragoo JL, Johnson C, McConnell J
Sports Med 2012 Jan 1;42(1):51-67. doi: 10.2165/11595680-000000000-00000. PMID: 22149697

Recent clinical studies

Etiology

Chen C, Kaushal N, Scher DM, Doyle SM, Blanco JS, Dodwell ER
J Pediatr Orthop 2018 Sep;38(8):e462-e469. doi: 10.1097/BPO.0000000000001191. PMID: 29917009
Raju S, Ward M Jr, Jones TL
J Vasc Surg Venous Lymphat Disord 2015 Jan;3(1):8-17. Epub 2014 Sep 2 doi: 10.1016/j.jvsv.2014.07.005. PMID: 26993675
Mohanna MA, Sallam AK
Saudi Med J 2014 Apr;35(4):403-5. PMID: 24749139
Sabharwal S
J Bone Joint Surg Am 2009 Jul;91(7):1758-76. doi: 10.2106/JBJS.H.01348. PMID: 19571101
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article

Diagnosis

Cady R, Hennessey TA, Schwend RM
Pediatrics 2022 Feb 1;149(2) doi: 10.1542/peds.2021-055555. PMID: 35104362Free PMC Article
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Mohanna MA, Sallam AK
Saudi Med J 2014 Apr;35(4):403-5. PMID: 24749139
Hamdy RC, Makhdom AM, Saran N, Birch J
J Am Acad Orthop Surg 2014 Apr;22(4):246-55. doi: 10.5435/JAAOS-22-04-246. PMID: 24668354
Heller M, Karen JK, Fangman W
Dermatol Online J 2007 Jan 27;13(1):2. PMID: 17511935

Therapy

Drexler A
J Diabetes 2017 Nov;9(11):976-977. doi: 10.1111/1753-0407.12583. PMID: 28692750
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article
Uglow MG
Foot Ankle Clin 2016 Sep;21(3):577-94. Epub 2016 Jun 29 doi: 10.1016/j.fcl.2016.04.005. PMID: 27524707
Raju S, Ward M Jr, Jones TL
J Vasc Surg Venous Lymphat Disord 2015 Jan;3(1):8-17. Epub 2014 Sep 2 doi: 10.1016/j.jvsv.2014.07.005. PMID: 26993675
Hadjivassiliou M, Sanders DD, Aeschlimann DP
Dig Dis 2015;33(2):264-268. Epub 2015 Apr 22 doi: 10.1159/000369509. PMID: 25925933

Prognosis

Demetri LRF, Starcevich AG, Manske MCB, James MA
J Bone Joint Surg Am 2022 Jul 20;104(14):1301-1310. Epub 2022 Apr 14 doi: 10.2106/JBJS.21.01286. PMID: 35856931
Oetgen ME, Kelly SM, Sellier LS, Du Plessis A
J Am Acad Orthop Surg 2015 Apr;23(4):213-21. doi: 10.5435/JAAOS-D-14-00004. PMID: 25808685
Temtamy SA, Aglan MS
Orphanet J Rare Dis 2008 Jun 13;3:15. doi: 10.1186/1750-1172-3-15. PMID: 18554391Free PMC Article
Banerjee A, Faridi MM, Banerjee TK, Mandal RN, Aggarwal A
Indian J Pediatr 2003 Jul;70(7):589-91. doi: 10.1007/BF02723165. PMID: 12940384
Duncan PA, Shapiro LR, Klein RM
Am J Med Genet 1991 Nov 1;41(2):153-61. doi: 10.1002/ajmg.1320410203. PMID: 1785625

Clinical prediction guides

Drake C, Whittaker GA, Kaminski MR, Chen J, Keenan AM, Rathleff MS, Robinson P, Landorf KB
J Foot Ankle Res 2022 Jan 22;15(1):4. doi: 10.1186/s13047-021-00507-2. PMID: 35065676Free PMC Article
Vanlerberghe C, Boutry N, Petit F
Clin Genet 2018 Jul;94(1):43-53. Epub 2018 Apr 11 doi: 10.1111/cge.13209. PMID: 29322497
Raju S, Ward M Jr, Jones TL
J Vasc Surg Venous Lymphat Disord 2015 Jan;3(1):8-17. Epub 2014 Sep 2 doi: 10.1016/j.jvsv.2014.07.005. PMID: 26993675
Piraccini BM, Alessandrini A
Clin Dermatol 2013 Sep-Oct;31(5):618-26. doi: 10.1016/j.clindermatol.2013.06.013. PMID: 24079591
Harrison RB, Keats TE
Skeletal Radiol 1980 Feb;5(1):23-7. doi: 10.1007/BF00347094. PMID: 6767277

Recent systematic reviews

Sharif F, Ahmad A, Shabbir A
BMC Med Imaging 2023 Dec 21;23(1):217. doi: 10.1186/s12880-023-01181-5. PMID: 38129787Free PMC Article
Drake C, Whittaker GA, Kaminski MR, Chen J, Keenan AM, Rathleff MS, Robinson P, Landorf KB
J Foot Ankle Res 2022 Jan 22;15(1):4. doi: 10.1186/s13047-021-00507-2. PMID: 35065676Free PMC Article
Torchia D
Pediatr Dermatol 2021 Mar;38(2):359-363. Epub 2021 Jan 22 doi: 10.1111/pde.14508. PMID: 33481271
Chen C, Kaushal N, Scher DM, Doyle SM, Blanco JS, Dodwell ER
J Pediatr Orthop 2018 Sep;38(8):e462-e469. doi: 10.1097/BPO.0000000000001191. PMID: 29917009
Weston J, Bromley R, Jackson CF, Adab N, Clayton-Smith J, Greenhalgh J, Hounsome J, McKay AJ, Tudur Smith C, Marson AG
Cochrane Database Syst Rev 2016 Nov 7;11(11):CD010224. doi: 10.1002/14651858.CD010224.pub2. PMID: 27819746Free PMC Article

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