MCID: CLB019
MIFTS: 36

Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

MalaCards integrated aliases for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

Name: Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly 53 71 13
Ccf 53 71
Hereditary Clubfoot Due to Pitx1 Point Mutation 55
Familial Clubfoot Due to Pitx1 Point Mutation 55
Hereditary Clubfoot Due to 5q31 Microdeletion 55
Familial Clubfoot Due to 5q31 Microdeletion 55
Talipes Equinovarus 71
Tev 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
clubfoot is bilateral in most patients
incomplete penetrance


HPO:

31
clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 53 119800
ICD10 via Orphanet 33 Q66.8
MedGen 39 C0009081
MeSH 41 D003025

Summaries for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

UniProtKB/Swiss-Prot : 71 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly: A congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities. Clubfoot may occur in isolation or as part of a syndrome. Some patients present tibial hemimelia, bilateral patellar hypoplasia, and preaxial mirror-image polydactyly.

MalaCards based summary : Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly, also known as ccf, is related to talipes equinovarus and tarp syndrome, and has symptoms including talipes equinovarus, foot polydactyly and patellar hypoplasia. An important gene associated with Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly is PITX1 (Paired Like Homeodomain 1), and among its related pathways/superpathways is DAG and IP3 signaling. Affiliated tissues include bone, and related phenotypes are adipose tissue and craniofacial

OMIM : 53 Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012). (119800)

Related Diseases for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Graphical network of the top 20 diseases related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:



Diseases related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Symptoms & Phenotypes for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Symptoms via clinical synopsis from OMIM:

53
Skeletal Limbs:
tibial hemimelia (in some patients)
patellar hypoplasia, bilateral (in some patients)
no anomalies of upper limbs

Skeletal Feet:
talipes equinovarus (clubfoot)
oblique talus (in some patients)
preaxial mirror-image polydactyly (in some patients)


Clinical features from OMIM:

119800

Human phenotypes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

31
# Description HPO Frequency HPO Source Accession
1 talipes equinovarus 31 HP:0001762
2 foot polydactyly 31 occasional (7.5%) HP:0001829
3 patellar hypoplasia 31 occasional (7.5%) HP:0003065

MGI Mouse Phenotypes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 9.16 PITX1 RYR1
2 craniofacial MP:0005382 8.96 PITX1 RYR1
3 limbs/digits/tail MP:0005371 8.62 PITX1 RYR1

Drugs & Therapeutics for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Search Clinical Trials , NIH Clinical Center for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly

Genetic Tests for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Anatomical Context for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

MalaCards organs/tissues related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

38
Bone

Publications for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Articles related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

(show top 50) (show all 246)
# Title Authors Year
1
Expanded Age Indication for Ponseti Method for Correction of Congenital Idiopathic Talipes Equinovarus: A Systematic Review. ( 29268899 )
2018
2
Ilizarov technique combined with limited adjunctive surgical procedures for correction of relapsed talipes equinovarus in children. ( 29231776 )
2018
3
Idiopathic congenital talipes equinovarus; not always an isolated anomaly. A review of long-term outcomes. ( 28691555 )
2017
4
Congenital talipes equinovarus and congenital vertical talus secondary to sacral agenesis. ( 28476907 )
2017
5
Treatment of syndrome-associated congenital talipes equinovarus using the Ponseti method: 4-12 years of follow-up. ( 28177984 )
2017
6
Ilizarov technique and limited surgical methods for correction of post-traumatic talipes equinovarus in children. ( 28815843 )
2017
7
Quantification of the ossification of the lateral cuneiform in the feet of young children with unilateral congenital talipes equinovarus. ( 28768790 )
2017
8
Spina bifida cystica and severe congenital bilateral talipes equinovarus in one twin of a monoamniotic pair: a case report. ( 29282147 )
2017
9
The hybrid method for the treatment of congenital talipes equinovarus: preliminary results on 92 consecutive feet. ( 28079742 )
2017
10
A systematic review of association studies of common variants associated with idiopathic congenital talipes equinovarus (ICTEV) in humans in the past 30A years. ( 27386344 )
2016
11
Congenital talipes equinovarus associated with hereditary congenital common peroneal nerve neuropathy: a literature review. ( 26588839 )
2016
12
Role of COL9A1 genetic polymorphisms in development of congenital talipes equinovarus in a Chinese population. ( 27819742 )
2016
13
Surgical treatment of neglected congenital idiopathic talipes equinovarus after walking age in Eritrea: an Italo-Eritrean cooperation. ( 26965500 )
2016
14
Fibula extension and correction of foot and ankle deformity to rectify post-osteomyelitis talipes equinovarus in a young adult: a case report and literature review. ( 27383298 )
2016
15
An Unusual Cause of Talipes Equinovarus: Agenesis of Leg Muscles. ( 27779489 )
2016
16
Birth prevalence of congenital talipes equinovarus in low- and middle-income countries: a systematic review and meta-analysis. ( 28000394 )
2016
17
QUESTION 2: What is the predictive value of an antenatal ultrasound showing apparently isolated talipes equinovarus? ( 28245180 )
2016
18
Treatment of persistent forefoot adduction during ponseti method in treatment of idiopathic talipes equinovarus by minimal soft release. ( 27408483 )
2016
19
Three novel missense mutations in the filamin B gene are associated with isolated congenital talipes equinovarus. ( 27395407 )
2016
20
Congenital idiopathic talipes equinovarus before and after walking age: observations and strategy of treatment from a series of 88 cases. ( 26409466 )
2015
21
Comment on critical region for talipes equinovarus in patients with 5q23 deletions. ( 25676702 )
2015
22
Comparative results of percutaneous Achilles tenotomy to combined open Achilles tenotomy with posterior capsulotomy in the correction of equinus deformity in congenital talipes equinovarus. ( 25690920 )
2015
23
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
24
Open Achilles tenotomy and posterior capsulotomy for congenital talipes equinovarus. ( 26156730 )
2015
25
Interventions for congenital talipes equinovarus (clubfoot). ( 26435670 )
2015
26
Patient-Based Long-Term Results of the Surgical Treatment of Congenital Talipes Equinovarus. ( 26634284 )
2015
27
Correcting Congenital Talipes Equinovarus in Children Using Three Different Corrective Methods: A Consort Study. ( 26181538 )
2015
28
Prenatal Ultrasound Diagnosis of Congenital Talipes Equinovarus in Bogota (Colombia) Between 2003 and 2012. ( 26361459 )
2015
29
Prognostic Value of the Radiologic Appearance of the Navicular Ossification Center in Congenital Talipes Equinovarus. ( 26049641 )
2015
30
Osteopathic manipulative treatment of congenital talipes equinovarus: A case report. ( 24411143 )
2014
31
Epithelioid hemangioma of distal femoral epiphysis in a patient with congenital talipes equinovarus. ( 24763238 )
2014
32
Does the Ponseti technique affect the vascular development in patients with congenital talipes equinovarus? ( 25229798 )
2014
33
Talipes equinovarus (clubfoot): neglected for 47 years and subsequent treatment. ( 24859734 )
2014
34
Is congenital talipes equinovarus a risk factor for pathological dysplasia of the hip? : a 21-year prospective, longitudinal observational study. ( 25371473 )
2014
35
Interventions for congenital talipes equinovarus (clubfoot). ( 25117413 )
2014
36
Congenital Talipes Equinovarus: Frequency of Associated Malformations not Identified by Prenatal Ultrasound. ( 25394569 )
2014
37
Copy number analysis of 413 isolated talipes equinovarus patients suggests role for transcriptional regulators of early limb development. ( 22892537 )
2013
38
Consanguineous marriage and increased risk of idiopathic congenital talipes equinovarus: a case-control study in a rural area. ( 23482273 )
2013
39
Outpatient taping in the treatment of idiopathic congenital talipes equinovarus. ( 23365041 )
2013
40
Congenital idiopathic talipes equinovarus: an evaluation in infants treated by the Ponseti method. ( 24142617 )
2013
41
3D MRI analysis of the lower legs of treated idiopathic congenital talipes equinovarus (clubfoot). ( 23382871 )
2013
42
Fertile eunuch syndrome in association with biventricular noncompaction, bicuspid aortic valve, severe aortic stenosis, and talipes equinovarus. ( 23678225 )
2013
43
SOX9 overexpression plays a potential role in idiopathic congenital talipes equinovarus. ( 23254326 )
2013
44
A single-center prospective evaluation of the Ponseti method in nonidiopathic congenital talipes equinovarus. ( 22892629 )
2012
45
Congenital talipes equinovarus: an epidemiological study in Sicily. ( 22489891 )
2012
46
Assessment of calf volume in Congenital Talipes Equinovarus by computer analysed digital photography. ( 22385530 )
2012
47
Assessment of talipes equinovarus treated by Ponseti technique: three-year preliminary report. ( 22387138 )
2012
48
Prenatal detection and postnatal outcome of congenital talipes equinovarus in 106 fetuses. ( 22580510 )
2012
49
Correlation of foot bimalleolar angle with Pirani score to assess the severity of congenital talipes equinovarus deformity. ( 21912337 )
2012
50
The inter-relationship of clinical parameters in congenital talipes equinovarus: relevance to pathological anatomy and clinical classification. ( 23450265 )
2012

Variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

UniProtKB/Swiss-Prot genetic disease variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

71
# Symbol AA change Variation ID SNP ID
1 PITX1 p.Glu130Lys VAR_058113 rs121909109

ClinVar genetic disease variations for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 RYR1 NM_000540.2(RYR1): c.7268T> A (p.Met2423Lys) single nucleotide variant Pathogenic rs118192174 GRCh37 Chromosome 19, 38990601: 38990601
2 TRPV4 NM_021625.4(TRPV4): c.947G> A (p.Arg316His) single nucleotide variant Pathogenic/Likely pathogenic rs387906905 GRCh37 Chromosome 12, 110236624: 110236624
3 PITX1 NM_002653.4(PITX1): c.765_799del35 (p.Ala256Argfs) deletion Pathogenic rs730882191 GRCh38 Chromosome 5, 135028925: 135028959
4 KIAA1109 NM_015312.3(KIAA1109): c.1557T> A (p.Tyr519Ter) single nucleotide variant Pathogenic/Likely pathogenic rs730882245 GRCh38 Chromosome 4, 122207168: 122207168
5 PITX1 NM_002653.4(PITX1): c.388G> A (p.Glu130Lys) single nucleotide variant Pathogenic rs121909109 GRCh37 Chromosome 5, 134366980: 134366980

Expression for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Search GEO for disease gene expression data for Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly.

Pathways for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

GO Terms for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

Biological processes related to Clubfoot, Congenital, with or Without Deficiency of Long Bones and/or Mirror-Image Polydactyly according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 8.62 PITX1 RYR1

Sources for Clubfoot, Congenital, with or Without Deficiency of Long Bones...

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