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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
Winfeld MJ, Winfeld BE
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Recent clinical studies

Etiology

DeHeer PA, Desai A, Altepeter JH
Clin Podiatr Med Surg 2020 Jan;37(1):171-194. doi: 10.1016/j.cpm.2019.08.012. PMID: 31735266
Shane A, Reeves C, Wobst G, Thurston P
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Diagnosis

Cady R, Hennessey TA, Schwend RM
Pediatrics 2022 Feb 1;149(2) doi: 10.1542/peds.2021-055555. PMID: 35104362Free PMC Article
Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
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
Kumar A, Kanojia RK, Saili A
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Therapy

Society for Maternal-Fetal Medicine (SMFM), Gandhi M, Rac MWF, McKinney J
Am J Obstet Gynecol 2019 Dec;221(6):B16-B18. doi: 10.1016/j.ajog.2019.09.024. PMID: 31787159
Aydin BK, Sofu H, Senaran H, Erkocak OF, Acar MA, Kirac Y
Medicine (Baltimore) 2015 Nov;94(47):e2072. doi: 10.1097/MD.0000000000002072. PMID: 26632713Free PMC Article
Shane A, Reeves C, Wobst G, Thurston P
Clin Podiatr Med Surg 2013 Jul;30(3):313-25. doi: 10.1016/j.cpm.2013.04.009. PMID: 23827490
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Prognosis

Park K, Reed J, Talpur R, Duvic M
Cutis 2019 Apr;103(4):E11-E16. PMID: 31116823
Shane A, Reeves C, Wobst G, Thurston P
Clin Podiatr Med Surg 2013 Jul;30(3):313-25. doi: 10.1016/j.cpm.2013.04.009. PMID: 23827490
Roukis TS, Hurless JS
J Foot Ankle Surg 1996 Jul-Aug;35(4):303-8; discussion 372. doi: 10.1016/s1067-2516(96)80078-0. PMID: 8872752
Viladot A
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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
Zenke MS, Hatori M, Tago S, Hosaka M, Kokubun S
Arch Orthop Trauma Surg 2002 May;122(4):248-50. Epub 2002 Jan 4 doi: 10.1007/s00402-001-0360-9. PMID: 12029518
Hodgson KJ, Sumner DS
Ann Vasc Surg 1988 Apr;2(2):174-84. doi: 10.1016/S0890-5096(06)60802-9. PMID: 3058195
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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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