Aliases & Classifications for Clubfoot

MalaCards integrated aliases for Clubfoot:

Name: Clubfoot 12 75 55 44 15
Congenital Clubfoot 12 37
Congenital Talipes Equinovarus 12
Equinovarus Deformity of Foot 12
Congenital Equinovarus 12
Club Foot 55


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Disease Ontology 12 DOID:11836
KEGG 37 H00903
ICD9CM 35 754.51
MeSH 44 D003025
NCIt 50 C84641
SNOMED-CT 68 15169008 33163000
ICD10 33 Q66.0 Q66.89
UMLS 72 C0009081

Summaries for Clubfoot

KEGG : 37
Congenital clubfoot is an idiopathic deformity of the lower limb that consists of malalignment of the bones and joints of the foot and ankle. It is defined as a fixation of the foot in a hand-like orientation. The calcaneus, navicular and cuboid bones are medially rotated in relation to talus. PITX1 haploinsufficiency accounts for the disease by causing developmental field defect during embryogenesis.

MalaCards based summary : Clubfoot, also known as congenital clubfoot, is related to arthrogryposis, distal, type 1a and talipes equinovarus. An important gene associated with Clubfoot is SLC26A2 (Solute Carrier Family 26 Member 2), and among its related pathways/superpathways are Cardiac conduction and Striated Muscle Contraction. The drugs incobotulinumtoxinA and Acetylcholine have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and skeletal muscle, and related phenotypes are Dynamic nuclei (hole, folded or small irregular) and limbs/digits/tail

Disease Ontology : 12 A bone development disease where one or both are inclined inwards, axially rotated outwards, and pointing downwards with concomitant soft tissue abnormalities.

Wikipedia : 75 Clubfoot is a birth defect where one or both feet are rotated inward and downward. The affected foot and... more...

Related Diseases for Clubfoot

Diseases related to Clubfoot via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 228)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 1a 33.0 TPM2 MYBPC1
2 talipes equinovarus 32.7 PITX1 HOXD13
3 spondyloepiphyseal dysplasia with congenital joint dislocations 31.9 SLC26A2 CHST3
4 spondylocarpotarsal synostosis syndrome 31.6 TPM2 TNNT3 MYH3
5 congenital contractures 30.5 TNNT3 CHST14
6 chromosome 17q23.1-q23.2 deletion syndrome 30.5 TBX4 PITX1
7 distal arthrogryposis 29.8 TPM2 TNNT3 MYH3 MYBPC1 ECEL1
8 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 12.7
9 familial clubfoot with or without associated lower limb anomalies 12.2
10 robin sequence with cleft mandible and limb anomalies 12.0
11 musculocontractural ehlers-danlos syndrome 12.0
12 arthrogryposis, distal, type 3 11.9
13 tarp syndrome 11.9
14 ehlers-danlos syndrome, musculocontractural type, 1 11.8
15 chromosome 17q23.1-q23.2 duplication syndrome 11.6
16 cyprus facial neuromusculoskeletal syndrome 11.5
17 radial defect robin sequence 11.4
18 epiphyseal dysplasia, multiple, 4 11.4
19 arthrogryposis, distal, type 2b1 11.4
20 moebius syndrome 11.4
21 arthrogryposis, distal, type 2a 11.4
22 myotonic dystrophy 11.4
23 spondyloepimetaphyseal dysplasia, strudwick type 11.3
24 lambert syndrome 11.3
25 atelosteogenesis, type ii 11.3
26 genitopatellar syndrome 11.3
27 arthrogryposis, distal, type 7 11.3
28 charge syndrome 11.3
29 constricting bands, congenital 11.3
30 acromelic frontonasal dysostosis 11.3
31 pseudoainhum 11.3
32 diastrophic dysplasia 11.2
33 pseudodiastrophic dysplasia 11.2
34 arthrogryposis, distal, type 5d 11.2
35 loeys-dietz syndrome 5 11.2
36 saul-wilson syndrome 11.2
37 hydrocephalus-cleft palate-joint contractures syndrome 11.2
38 larsen syndrome 11.0
39 kniest dysplasia 11.0
40 spondyloepiphyseal dysplasia congenita 11.0
41 vertical talus, congenital 11.0
42 abetalipoproteinemia 11.0
43 orofaciodigital syndrome iv 11.0
44 spondyloperipheral dysplasia 11.0
45 duane-radial ray syndrome 11.0
46 bruck syndrome 2 11.0
47 arthrogryposis, distal, type 1b 11.0
48 epileptic encephalopathy, early infantile, 29 11.0
49 yuan-harel-lupski syndrome 11.0
50 lethal congenital contracture syndrome 11 11.0

Graphical network of the top 20 diseases related to Clubfoot:

Diseases related to Clubfoot

Symptoms & Phenotypes for Clubfoot

GenomeRNAi Phenotypes related to Clubfoot according to GeneCards Suite gene sharing:

# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.17 CHST14 ECEL1 HOXD13 SLC26A2 TBX4 TNNT3

MGI Mouse Phenotypes related to Clubfoot:

# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 9.56 CHST14 HOXC12 HOXD10 HOXD13 PITX1 SLC26A2
2 skeleton MP:0005390 9.28 CHST14 CHST3 ECEL1 HOXD10 HOXD13 PITX1

Drugs & Therapeutics for Clubfoot

Drugs for Clubfoot (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 29)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1 incobotulinumtoxinA Phase 4
Acetylcholine Approved, Investigational Phase 3 51-84-3 187
Ketamine Approved, Vet_approved Phase 2, Phase 3 6740-88-1 3821
Bupivacaine Approved, Investigational Phase 2, Phase 3 2180-92-9, 38396-39-3 2474
5 Cholinergic Agents Phase 3
6 abobotulinumtoxinA Phase 3
7 Acetylcholine Release Inhibitors Phase 3
8 Botulinum Toxins Phase 3
9 Botulinum Toxins, Type A Phase 3
10 Neuromuscular Agents Phase 3
11 Anesthetics, Local Phase 2, Phase 3
12 Central Nervous System Depressants Phase 2, Phase 3
13 Excitatory Amino Acid Antagonists Phase 2, Phase 3
14 Anesthetics Phase 2, Phase 3
15 Anesthetics, General Phase 2, Phase 3
16 Anesthetics, Dissociative Phase 2, Phase 3
17 Anesthetics, Intravenous Phase 2, Phase 3
18 Excitatory Amino Acids Phase 2, Phase 3
19 Hemagglutinins Phase 2
Adenosine Approved, Investigational 58-61-7 60961
21 Neuroserpin
22 Astragalus
23 Pharmaceutical Solutions
24 Neurotransmitter Agents
25 Analgesics
26 Peripheral Nervous System Agents
27 Purinergic P1 Receptor Agonists
28 Anti-Arrhythmia Agents
29 Vasodilator Agents

Interventional clinical trials:

(show all 46)
# Name Status NCT ID Phase Drugs
1 Effects of Repeated Use of Botulinum Neurotoxin Type A (BoNT/A) Free of Complexing Proteins in the Spastic Equinovarus Foot in Stroke Patients: A Randomized Clinical Trial Completed NCT03044080 Phase 4 IncobotulinumtoxinA;OnabotulinumtoxinA
2 Video and Temporal Spatial Parameters Assessment of Gait After Dysport Treatment. A Pilot Study Recruiting NCT03501043 Phase 4 Dysport
3 Infra-orbital Nerve Block for Post Operative Analgesia in Young Children Undergoing Pediatric Cleft Lip Surgery. Completed NCT02514980 Phase 2, Phase 3 Bupivacaine;Ketamine
4 Study of the Efficacy of the Selective Neurotomy in the Treatment of the Spastic Equinovarus Foot Among Adult Hemiplegic Patient Following the ICF Model. A Prospective, Randomized, Controlled Single Blind Study Completed NCT00825097 Phase 3 Botulinum toxin injection
5 Multi-center Open Comparative Randomized Trial of Clinical and Neurophysiological Efficacy and Safety of Xeomin (Botulinum Toxin Type A) vs. Botox (Complex of Botulinum Toxin Type A and Hemagglutinin) in Children With Spastic Equine and Equinovarus Foot Deformation in Pediatric Cerebral Palsy Completed NCT02188277 Phase 2 Xeomin;Botox®
6 Effectiveness of Sucrose Analgesia in Infants Undergoing Casting for Club Foot Unknown status NCT01050088
7 Pedobarographic Assessments of Clubfoot Treated Patients Unknown status NCT00175708
8 Natural History and Effectiveness of Parents' Manipulation in Newborn With Talipes Calcaneovalgus,a Randomized Controlled Trial Unknown status NCT01767662
9 Do Physical Manipulation Exercises With EPAT Improve Ankle Dorsiflexion and Reduce Dynamic Plantar Forefoot Pressure in Diabetic Subjects With Equinus?: A Pilot RCT Unknown status NCT02233140
10 Genetic Disease Gene Identification Unknown status NCT00916903
11 The Pma Mouse and the Developmental Basis of Clubfoot: MRI Anatomical Modelling of Human ICTEV (Clubfoot) Completed NCT01088828
12 Polyaxial Brace Fixing for the Treatment of Congenital Clubfoot in Newborns and Infants Completed NCT02815306
13 Genetic Linkage Study of Idiopathic Talipes Equinovarus (ITEV) (Clubfoot) Completed NCT00474344
14 Measurement of Compliance in Clubfoot Bracing Via a Novel Pressure Sensor Completed NCT01481324
15 Comparison of Two Different Cast Materials for the Treatment of Congenital Idiopathic Clubfoot Using the Ponseti Method: A Prospective Randomized Controlled Trial Completed NCT01067651
16 Results of Gait Analysis Including Oxford Foot Model in Children With Clubfoot Treated With the Ponseti Method Completed NCT02022267
17 Clubfoot DNA Repository Completed NCT00607191
18 Children Born With Club Feet: Ultrasound Diagnosis and Antenatal Assessment Completed NCT03671863
19 Normalization of Forefoot Supination After Tibialis Anterior Tendon Transfer for Dynamic Clubfoot Recurrence Completed NCT03953430
20 A Randomized Controlled Trial of Three Non-pharmacologic Analgesic Techniques for Casting of Clubfoot Infants Completed NCT02395185
21 Impairments of Oral Language in Subjects With the Möbius Sequence Completed NCT00856531
22 A Post Marketing Surveillance Study of Dysport Formulated With a Batch of Bulk Active Substance From a New Primary Manufacturing Facility at the Centre for Applied Microbiology & Research. Completed NCT00210431
23 Development of Child With Equinus Deformity Idiopathic Completed NCT03382028
24 Treatment of Spastic Equinovarus Foot After Stroke. Efficacy: Association Between Ankle Foot Orthosis and Botulinum Toxin A (BTA) Injection Completed NCT00199589 Botulinic toxin (Botox)
25 Study of the Efficacy and Safety of the Neuro-orthopaedic Surgery in the Treatment of the Spastic Equinovarus Foot With ICF Assessment Completed NCT01265238
26 Efficiency of Botulinum Toxin Injection for Spastic Equinovarus Foot in Post Stroke Hemiparetic Patients Randomized Controlled Trial Versus Placebo Completed NCT03405948 Intra muscular injection of Botulinum toxin
27 Determination of the Pathophysicologic Collagen Changes in the Diabetic Achilles Tendon. Completed NCT01382628
28 Customized Orthosis for Children With Clubfoot Following Ponseti Casting Recruiting NCT03853811
29 A Retrospective Multicenter Analysis on Treatment of Congenital Idiopathic Clubfoot With Minimally Invasive Carroll's Technique Recruiting NCT02815215 Early Phase 1
30 Prospective Evaluation of Treatment for Clubfoot Recruiting NCT02257229
31 Efficacy of Botox in Patients With Idiopathic Clubfoot Recruiting NCT00474032 Botulinum Toxin (Type A) injection (10 U/Kg)
32 Efficacy of a New Design of Foot Abduction Brace (FAB) Compared to Standard FAB During Ponseti Treatment of Idiopathic Clubfoot by Measuring Rate of Recurrence and Compliance Using Novel Touch Sensors Recruiting NCT03249805
33 Efficacy and Safety of Nerve Root Axial Decompression Surgery in The Treatment of Tethered Cord Syndrome: A Conservative Treatment- Controlled, Randomized, Clinical Study Recruiting NCT03262844
34 Study of Therapeutic Outcomes and Practices in Freeman-Sheldon Syndrome Recruiting NCT01144741
35 In Vivo Dynamic Evaluation of Ankle Joint and Muscle Mechanics in Children With Spastic Equinus Deformity Due to Cerebral Palsy: Implications for Recurrent Equinus. Recruiting NCT02814786
36 Duration of Brace Wear in Clubfoot Treatment - A Prospective Randomized Trail Active, not recruiting NCT01551264
37 Bracing Compliance and Personality Traits: A Compliance Assessment Program for Scoliosis and Clubfeet Active, not recruiting NCT02755766
38 Prospective Randomized Controlled Trial Comparing Extramembranous and Interosseous Technique of Tibialis Posterior Tendon Transfer. Active, not recruiting NCT01751503
39 Osteopathic Approach Into Neonatology Ward: the NE-O Model Available NCT01902563
40 Rate Of Residual Clubfoot Deformity With Correlation To Absence Of Peroneus Tertius Muscle: A Prospective Study Not yet recruiting NCT03749265
41 Ankle Equinus Contracture Treated With Dynamic Splinting in a Randomized, Controlled Trial Terminated NCT01238484
42 The Effect of Botulinum Toxin A Injections on Ankle Dorsiflexion Following Internal Fixation of Tibial Plafond (Pilon) Fractures: A Pilot Study Terminated NCT02051933 Botox;Placebo
43 Freeman-Sheldon Syndrome Quality of Life Study (FSS-QLS): Cross-sectional Study of Concomitant Disorder-Specific Contributors to Quality of Life and Clinical Outcome Terminated NCT01307475
44 Comparison of Ponseti Method Versus Older Treatments in Talipes Equinovarus Through Gait Analysis and Clinical Results Withdrawn NCT03580746
45 Economic Evaluation of Clubfoot Treatment: One Centre's Experience Withdrawn NCT00475631
46 Surgical Treatment of Plantar Fasciitis: Instep Plantar Fasciotomy With and Without Gastrocnemius Recession Withdrawn NCT02287714

Search NIH Clinical Center for Clubfoot

Cochrane evidence based reviews: clubfoot

Genetic Tests for Clubfoot

Anatomical Context for Clubfoot

MalaCards organs/tissues related to Clubfoot:

Bone, Skin, Skeletal Muscle, Brain, Testes, Spinal Cord, Kidney

Publications for Clubfoot

Articles related to Clubfoot:

(show top 50) (show all 2092)
# Title Authors PMID Year
Developmental dysplasia of the hip and clubfoot treated by Pavlik and Ponseti methods. 38
31246178 2019
Neurodevelopmental difficulties negatively affect health-related quality of life in children with idiopathic clubfoot. 38
30588661 2019
Comparison of two different methods in preoperative planning of the amount of lengthening in Z achilloplasty technique. 38
31425334 2019
Goebbels´ clubfoot: a case of osteomyelitis? 38
31111421 2019
[Clubfoot Therapy in Accordance with Ponseti - Current Standard]. 38
30481837 2019
Gross Motor Skills in Children With Idiopathic Clubfoot and the Association Between Gross Motor Skills, Foot Involvement, Gait, and Foot Motion. 38
31305379 2019
Congenital orthopaedic limp deformities in Corpus Hippocraticum. 38
30767042 2019
Objective Measurement of Brace Wear in Successfully Ponseti-Treated Clubfeet: Pattern of Decreasing Use in the First 2 Years. 38
31436753 2019
A polyaxial fixation brace for the treatment of idiopathic congenital talipes equinovarus in newborns. 38
31300013 2019
Diagnostic accuracy of isolated clubfoot in twin compared to singleton gestations. 38
31091196 2019
Clubfoot and Tethered Cord Syndrome: Results of Treatment With the Ponseti Method. 38
31169753 2019
Poor Evertor Muscle Activity Is a Predictor of Recurrence in Idiopathic Clubfoot Treated by the Ponseti Method: A Prospective Longitudinal Study With a 5-Year Follow-up. 38
30855553 2019
Temporal Variation of Scores Along the Course of the Ponseti Treatment in Older Children: A Ready Guide to Progress of Treatment. 38
31335484 2019
Prediction of Number of Casts and Need of Tenotomy Using Pirani Score in the Management of Clubfoot. 38
31299821 2019
Additional challenges in children with idiopathic clubfoot: is it just the foot? 38
31312263 2019
The PBS Score - a clinical assessment tool for the ambulatory and recurrent clubfoot. 38
31312268 2019
Correlations between the Gait Profile Score and standard clinical outcome measures in children with idiopathic clubfoot. 38
31005855 2019
Congenital talipes equinovarus: a systematic review of relapse as a primary outcome of the Ponseti method. 38
31154846 2019
Reproductive History and Burden of Adverse Pregnancy Outcomes in Women in Southern India (P11-006-19). 38
31225301 2019
Split hand/foot malformation with long bone deficiency associated with BHLHA9 gene duplication: a case report and review of literature. 38
31200655 2019
A new unilateral abduction orthosis for Ponseti-treated clubfoot: A cohort study to assess compliance. 38
30557091 2019
Parental internet search in the field of pediatric orthopedics. 38
30972481 2019
Challenging clubfeet: the arthrogrypotic clubfoot and the complex clubfoot. 38
31312267 2019
Functional physiotherapy method results for the treatment of idiopathic clubfoot. 38
31259147 2019
Treatment of relapsed, residual and neglected clubfoot: adjunctive surgery. 38
31312269 2019
Special symposium issue: Clubfoot. 38
31312261 2019
The genetics of isolated and syndromic clubfoot. 38
31312262 2019
Bracing in clubfoot: do we know enough? 38
31312265 2019
Prediction of Number of Casts and Need of Tenotomy Using Pirani Score in the Management of Clubfoot. 38
31188248 2019
Delayed ossification and abnormal development of tarsal bones in idiopathic clubfoot: should it affect bracing protocol when using the Ponseti method? 38
31312266 2019
The significance of foot length at the initiation of the Ponseti method: a prospective study. 38
31312264 2019
Dimeglio Score Predicts Treatment Difficulty During Ponseti Casting for Isolated Clubfoot. 38
30608304 2019
A comparison study on hindfoot correction, Achilles tendon length and thickness between clubfoot patients treated with percutaneous Achilles tendon tenotomy versus casting alone using Ponseti method. 38
30947613 2019
Relapse Rates in Patients with Clubfoot Treated Using the Ponseti Method Increase with Time: A Systematic Review. 38
31116129 2019
Evaluation of modified Ponseti technique in treatment of complex clubfeet. 38
31061597 2019
Proposal of an innovative casting technique for correction of clubfoot according to Ponseti method: a pilot study. 38
30252794 2019
Prenatal Diagnosis and Management of Ectopia Cordis: Varied Presentation Spectrum. 38
30600745 2019
Prevalence of Hip Dysplasia and Associated Conditions in Children Treated for Idiopathic Early-onset Scoliosis-Don't Just Look at the Spine. 38
30994578 2019
Congenital clubfoot in Europe: A population-based study. 38
30740879 2019
Manual therapy for the pediatric population: a systematic review. 38
30866915 2019
Classic metaphyseal lesion acquired during physical therapy. 38
30611094 2019
Osteomyelitis Secondary to Ponseti Method for the Treatment of Clubfoot Associated with Meningomyelocele. 38
31183281 2019
The top 100 most-cited articles on 'Clubfoot'. 38
30204625 2019
Accelerated Ponseti method: First experiences in a more convenient technique for patients with severe idiopathic club feet. 38
30930070 2019
A novel 3D evaluation method for assessing bone to bone relationships in clubfoot. 38
30915730 2019
Novel contribution to clubfoot pathogenesis: The possible role of extracellular matrix proteins. 38
30615219 2019
Foot size asymmetry following Ponseti treatment versus comprehensive surgical releases for unilateral clubfeet. 38
30260843 2019
The Ponseti method of clubfoot treatment in walking age children: is it effective? A study of 56 children from 1 to 10 years of age. 38
30312250 2019
Incidence and risk factors for iatrogenic distal tibia/fibula fracture during Ponseti technique of clubfoot treatment. 38
30741748 2019
Comparison of two methods for idiopathic clubfoot treatment: A case-controlled study in Taiwan. 38
30150098 2019

Variations for Clubfoot

Expression for Clubfoot

Search GEO for disease gene expression data for Clubfoot.

Pathways for Clubfoot

GO Terms for Clubfoot

Cellular components related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 myofibril GO:0030016 8.96 MYH3 MYBPC1
2 myosin filament GO:0032982 8.62 MYH3 MYBPC1

Biological processes related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.88 TBX4 PITX1 HOXD13 HOXD10 HOXC12
2 skeletal system development GO:0001501 9.58 PITX1 HOXD13 HOXD10
3 muscle contraction GO:0006936 9.54 TPM2 TNNT3 MYBPC1
4 skeletal muscle contraction GO:0003009 9.46 TNNT3 MYH3
5 limb morphogenesis GO:0035108 9.43 TBX4 HOXD13
6 sarcomere organization GO:0045214 9.33 TNNT3 MYH3 MYBPC1
7 hindlimb morphogenesis GO:0035137 9.32 PITX1 HOXD10
8 regulation of ATPase activity GO:0043462 9.26 TPM2 TNNT3
9 embryonic limb morphogenesis GO:0030326 9.26 TBX4 MYH3 HOXD13 HOXD10
10 muscle filament sliding GO:0030049 8.92 TPM2 TNNT3 MYH3 MYBPC1

Molecular functions related to Clubfoot according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sequence-specific DNA binding GO:0043565 9.62 PITX1 HOXD13 HOXD10 HOXC12
2 sulfotransferase activity GO:0008146 9.26 CHST3 CHST14
3 structural constituent of muscle GO:0008307 9.16 TPM2 MYBPC1
4 actin filament binding GO:0051015 9.13 TPM2 MYH3 MYBPC1
5 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.1 ZNF664 TBX4 PITX1 HOXD13 HOXD10 HOXC12

Sources for Clubfoot

9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
32 HPO
33 ICD10
34 ICD10 via Orphanet
38 LifeMap
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
55 Novoseek
58 OMIM via Orphanet
62 PubMed
71 Tocris
73 UMLS via Orphanet
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