CVT
MCID: VRT007
MIFTS: 36

Vertical Talus, Congenital (CVT)

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

Aliases & Classifications for Vertical Talus, Congenital

MalaCards integrated aliases for Vertical Talus, Congenital:

Name: Vertical Talus, Congenital 56 52 73 29 54 6 39
Congenital Convex Pes Valgus 52 58 73
Congenital Vertical Talus 52 58 36
Rocker Bottom Foot 52 29 6
Cvt 56 52 73
Charcot-Marie-Tooth Disease, Foot Deformity of 56 13
Pes Valgus, Congenital Convex 56 52
Rocker-Bottom Foot Deformity 52 73
Congenital Rocker-Bottom Foot 58
Congenital Convex Foot 58
Rocker-Bottom Foot 56
Vertical Talus 52

Characteristics:

Orphanet epidemiological data:

58
congenital vertical talus
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
apparent in newborn at birth
isolated finding
patients younger than 30 years complain only that they cannot run fast
patients between 30 and 60 years have discomfort with prolonged standing
patients older than 60 years have severe degenerative arthritis in the feet


HPO:

31
vertical talus, congenital:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 192950
KEGG 36 H00929
MeSH 43 D005532
ICD10 via Orphanet 33 Q66.8
UMLS via Orphanet 72 C0240912
Orphanet 58 ORPHA178382

Summaries for Vertical Talus, Congenital

NIH Rare Diseases : 52 Congenital vertical talus , sometimes called "rocker-bottom foot ," is a rare birth defect of the foot in which the talus bone has formed in the wrong position and other foot bones have shifted on top of it. As a result, the front of the foot points up and the bottom of the foot is stiff and has no arch (flatfoot), usually curving outward like the bottom of a rocker. One or both feet may be affected. The underlying cause of vertical talus is usually not known. It can occur by itself (isolated) or may be associated with a genetic syndrome or neuromuscular disorder . Rare familial cases have been reported, some due to a mutation in a gene called HOXD10 . While vertical talus is not painful in very early childhood, if left untreated it typically leads to pain and disability later in life. Treatment usually involves surgery before one year of age to correct the problems with the bones, and the ligaments and tendons that support the bones.

MalaCards based summary : Vertical Talus, Congenital, also known as congenital convex pes valgus, is related to external auditory canal, bilateral atresia of, with congenital vertical talus and congenital vertical talus, unilateral. An important gene associated with Vertical Talus, Congenital is HOXD10 (Homeobox D10). The drugs Astragalus and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are arthritis and rocker bottom foot

OMIM : 56 Congenital vertical talus (CVT), also known as 'rocker-bottom foot' deformity, is a dislocation of the talonavicular joint characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence (summary by Levinsohn et al., 2004). The condition is transmitted in an autosomal dominant pattern of inheritance, and sometimes shows incomplete penetrance and variable expressivity. There may be a broad spectrum of deformities, including flatfoot, talipes equinovarus (TEV or clubfoot), cavus foot, metatarsus adductus, and even hypoplasia of the tibia (summary by Dobbs et al., 2006). (192950)

KEGG : 36 Congenital vertical talus is a primary dislocation of the talonavicular joint of autosomal dominant mode of inheritance. It is associated with rigid dorsal dislocation of the navicular over the neck of the talus, causing a flatfoot deformity known as 'rocker-bottom foot'. It occurs in syndromic deformity but is rarely in isolation.

UniProtKB/Swiss-Prot : 73 Vertical talus, congenital: A rare malformation characterized by vertical orientation of the talus with a rigid dorsal dislocation of the navicular, equinus deformity of the calcaneus, abduction deformity of the forefoot, and contracture of the soft tissues of the hind- and mid-foot. This condition is usually associated with multiple other congenital deformities and only rarely is an isolated deformity with familial occurrence.

Wikipedia : 74 Rocker bottom foot, also known as congenital vertical talus, is an anomaly of the foot. It is... more...

Related Diseases for Vertical Talus, Congenital

Diseases related to Vertical Talus, Congenital via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 external auditory canal, bilateral atresia of, with congenital vertical talus 12.6
2 congenital vertical talus, unilateral 12.5
3 congenital vertical talus, bilateral 12.5
4 rasmussen johnsen thomsen syndrome 11.5
5 rasmussen subacute encephalitis 11.5
6 thrombophilia due to thrombin defect 10.5
7 diastematomyelia 10.4
8 avascular necrosis 10.4
9 thrombosis 10.4
10 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.3
11 neural tube defects 10.3
12 myelomeningocele 10.3
13 clubfoot 10.3
14 chromosomal triplication 10.3
15 spina bifida cystica 10.3
16 distal arthrogryposis 10.3
17 polykaryocytosis inducer 10.2
18 intracranial hypertension 10.2
19 osteonecrosis 10.2
20 charcot-marie-tooth disease 10.2
21 arthrogryposis, distal, type 2a 10.1
22 arthrogryposis, distal, type 2b1 10.1
23 arthrogryposis, distal, type 2b2 10.1
24 cardiomyopathy, familial hypertrophic, 2 10.1
25 migraine with or without aura 1 10.1
26 ocular motor apraxia 10.1
27 ataxia and polyneuropathy, adult-onset 10.1
28 kearns-sayre syndrome 10.1
29 sacral defect with anterior meningocele 10.1
30 stroke, ischemic 10.1
31 helix syndrome 10.1
32 tolosa-hunt syndrome 10.1
33 thrombophilia 10.1
34 cerebrovascular disease 10.1
35 brachydactyly, type c 10.0
36 cri-du-chat syndrome 10.0
37 digitotalar dysmorphism 10.0
38 ear malformation 10.0
39 larsen syndrome 10.0
40 split-hand/foot malformation 1 10.0
41 multiple pterygium syndrome, escobar variant 10.0
42 branchiootic syndrome 1 10.0
43 alkuraya-kucinskas syndrome 10.0
44 brachydactyly 10.0
45 scoliosis 10.0
46 tooth disease 10.0
47 cerebral palsy 10.0
48 congenital amyoplasia 10.0
49 central core disease of muscle 10.0
50 central core myopathy 10.0

Graphical network of the top 20 diseases related to Vertical Talus, Congenital:



Diseases related to Vertical Talus, Congenital

Symptoms & Phenotypes for Vertical Talus, Congenital

Human phenotypes related to Vertical Talus, Congenital:

31
# Description HPO Frequency HPO Source Accession
1 arthritis 31 HP:0001369
2 rocker bottom foot 31 HP:0001838
3 calcaneovalgus deformity 31 HP:0001848
4 equinus calcaneus 31 HP:0008138

Symptoms via clinical synopsis from OMIM:

56
Skeletal Feet:
congenital vertical talus, bilateral
'rocker bottom' feet
vertical orientation of the talus with rigid dorsal dislocation of the navicular bone
distal aspect of the talus is projected plantarly
equinus deformity of the calcaneus
more

Clinical features from OMIM:

192950

Drugs & Therapeutics for Vertical Talus, Congenital

Drugs for Vertical Talus, Congenital (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Astragalus
2 Neuroserpin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Vertical Talus, Congenital

Genetic Tests for Vertical Talus, Congenital

Genetic tests related to Vertical Talus, Congenital:

# Genetic test Affiliating Genes
1 Rocker Bottom Foot 29
2 Vertical Talus, Congenital 29 HOXD10

Anatomical Context for Vertical Talus, Congenital

MalaCards organs/tissues related to Vertical Talus, Congenital:

40
Bone

Publications for Vertical Talus, Congenital

Articles related to Vertical Talus, Congenital:

(show all 34)
# Title Authors PMID Year
1
A HOX gene mutation in a family with isolated congenital vertical talus and Charcot-Marie-Tooth disease. 6 56 61
15146389 2004
2
HOXD10 M319K mutation in a family with isolated congenital vertical talus. 56 6
16450407 2006
3
Congenital vertical talus in four generations of the same family. 56 54
15368082 2004
4
Autosomal dominant transmission of isolated congenital vertical talus. 56
12180606 2002
5
Autosomal dominant transmission of isolated congenital vertical talus. 56
2591068 1989
6
Congenital vertical talus: classification with 69 cases and new measurement system. 56
6736236 1984
7
Congenital vertical talus and its familial occurrence: an analysis of 36 patients. 56
455829 1979
8
Plantar Approach for Midfoot Wedge Resection to Reconstruct the Rocker Bottom Foot. 61
31474393 2019
9
[Mid-Term Outcomes of Reconstruction of Charcot Foot Neuroarthropathy in Diabetic Patients]. 61
30843514 2019
10
Neu Laxova syndrome. 61
30706883 2019
11
Biomechanical Comparison of Intramedullary Beaming and Plantar Plating Methods for Stabilizing the Medial Column of the Foot: An In Vitro Study. 61
30172718 2018
12
Charcot neuroarthropathy patient education among podiatrists in Scotland: a modified Delphi approach. 61
30258497 2018
13
Prenatal congenital vertical talus (rocker bottom foot): a marker for multisystem anomalies. 61
28879597 2017
14
Prenatal presentation of Mabry syndrome with congenital diaphragmatic hernia and phenotypic overlap with Fryns syndrome. 61
28817240 2017
15
[Mosaic trisomy 18. Series of cases]. 61
28504507 2017
16
[Surgical management of spinal deformity in a patient with Escobar syndrome: review of the literature]. 61
28267910 2016
17
Interstitial de novo 18q22.3q23 deletion: clinical, neuroradiological and molecular characterization of a new case and review of the literature. 61
27766118 2016
18
The management of Charcot midfoot deformities in diabetic patients. 61
23909047 2013
19
Solid bolt fixation of the medial column in Charcot midfoot arthropathy. 61
22951022 2013
20
Limb abnormalities on trisomy 18: evidence for early diagnosis. 61
23002079 2012
21
Realignment and extended fusion with use of a medial column screw for midfoot deformities secondary to diabetic neuropathy. Surgical technique. 61
20194341 2010
22
The role of an extended medial column arthrodesis for Charcot midfoot neuroarthropathy. 61
22396811 2010
23
Realignment and extended fusion with use of a medial column screw for midfoot deformities secondary to diabetic neuropathy. 61
19339565 2009
24
The diabetic foot. 61
18353793 2008
25
MR imaging of the diabetic foot. 61
18440478 2008
26
[Congenital multiple arthrogryposis]. 61
17323063 2007
27
Iniencephaly and chromosome mosaicism: a report of two cases. 61
16131369 2005
28
Prenatal diagnosis of multiple pterygium syndrome associated with Klinefelter syndrome. 61
12975782 2003
29
[Vertical talus]. 61
1685547 1991
30
The diabetic foot with synovial cyst. 61
2209077 1990
31
Charcot foot--a technique for treatment of chronic plantar ulcer by saucerization and primary closure. 61
3721365 1986
32
[Congenital rocker-bottom foot (author's transl)]. 61
320773 1977
33
Dynamic correction of spastic rocker-bottom foot. Peroneal to anterior tibial tendon transfer and heel-cord lengthening. 61
5802523 1969
34
Vertical talus (congenital talonavicular dislocation). 61
14471906 1961

Variations for Vertical Talus, Congenital

ClinVar genetic disease variations for Vertical Talus, Congenital:

6 (show all 33) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 HOXD10 NM_002148.3(HOXD10):c.956T>A (p.Met319Lys)SNV Pathogenic 14878 rs104893634 2:176983892-176983892 2:176119164-176119164
2 46;XX;inv(18)(q11.2q23)dninversion Likely pathogenic 267855
3 HOXD10 NM_002148.3(HOXD10):c.*21C>TSNV Uncertain significance 332491 rs570165195 2:176983980-176983980 2:176119252-176119252
4 HOXD10 NM_002148.3(HOXD10):c.*270G>ASNV Uncertain significance 332503 rs779201977 2:176984229-176984229 2:176119501-176119501
5 HOXD10 NM_002148.3(HOXD10):c.*233_*234delTAshort repeat Uncertain significance 332497 rs6147035 2:176984192-176984193 2:176119464-176119465
6 HOXD10 NM_002148.3(HOXD10):c.*235delinsTATATATATATATATATindel Uncertain significance 332502 rs886055161 2:176984194-176984194 2:176119466-176119466
7 HOXD10 NM_002148.3(HOXD10):c.786T>A (p.Thr262=)SNV Uncertain significance 332487 rs755118732 2:176983722-176983722 2:176118994-176118994
8 HOXD10 NM_002148.3(HOXD10):c.561G>A (p.Lys187=)SNV Uncertain significance 332484 rs143870330 2:176982122-176982122 2:176117394-176117394
9 HOXD10 NM_002148.3(HOXD10):c.420C>G (p.Pro140=)SNV Uncertain significance 332481 rs375702128 2:176981981-176981981 2:176117253-176117253
10 HOXD10 NM_002148.3(HOXD10):c.*235delinsTATATATATATindel Uncertain significance 332501 rs886055161 2:176984194-176984194 2:176119466-176119466
11 HOXD10 NM_002148.3(HOXD10):c.*233T>ASNV Uncertain significance 332500 rs867263804 2:176984192-176984192 2:176119464-176119464
12 HOXD10 NM_002148.3(HOXD10):c.*231_*234dupTATAshort repeat Uncertain significance 332494 rs6147035 2:176984190-176984193 2:176119462-176119465
13 HOXD10 NM_002148.3(HOXD10):c.*231_*234delTATAshort repeat Uncertain significance 332498 rs6147035 2:176984190-176984193 2:176119462-176119465
14 HOXD10 NM_002148.3(HOXD10):c.*229_*234dupTATATAshort repeat Uncertain significance 332499 rs6147035 2:176984188-176984193 2:176119460-176119465
15 HOXD10 NM_002148.3(HOXD10):c.*205_*206TA[23]short repeat Uncertain significance 332496 rs6147035 2:176984178-176984193 2:176119450-176119465
16 HOXD10 NM_002148.3(HOXD10):c.266G>A (p.Arg89Gln)SNV Uncertain significance 332479 rs374700658 2:176981827-176981827 2:176117099-176117099
17 HOXD10 NM_002148.3(HOXD10):c.116C>T (p.Pro39Leu)SNV Uncertain significance 332478 rs886055157 2:176981677-176981677 2:176116949-176116949
18 HOXD10 NM_002148.3(HOXD10):c.-10C>ASNV Uncertain significance 332477 rs781377305 2:176981552-176981552 2:176116824-176116824
19 HOXD10 NM_002148.3(HOXD10):c.581A>G (p.Gln194Arg)SNV Uncertain significance 332485 rs769981285 2:176982142-176982142 2:176117414-176117414
20 HOXD10 NM_002148.3(HOXD10):c.543C>A (p.Asn181Lys)SNV Uncertain significance 332483 rs886055158 2:176982104-176982104 2:176117376-176117376
21 HOXD10 NM_002148.3(HOXD10):c.465T>C (p.Ser155=)SNV Uncertain significance 332482 rs141770128 2:176982026-176982026 2:176117298-176117298
22 HOXD10 NM_002148.3(HOXD10):c.*223_*234dupTATATATATATAshort repeat Uncertain significance 332495 rs6147035 2:176984182-176984193 2:176119454-176119465
23 HOXD10 NM_002148.3(HOXD10):c.998T>C (p.Leu333Pro)SNV Likely benign 332489 rs144160937 2:176983934-176983934 2:176119206-176119206
24 HOXD10 NM_002148.3(HOXD10):c.*47G>TSNV Likely benign 332492 rs114746583 2:176984006-176984006 2:176119278-176119278
25 HOXD10 NM_002148.3(HOXD10):c.372T>G (p.Ile124Met)SNV Likely benign 332480 rs149038150 2:176981933-176981933 2:176117205-176117205
26 HOXD10 NM_002148.3(HOXD10):c.623A>G (p.Gln208Arg)SNV Likely benign 332486 rs575171191 2:176982184-176982184 2:176117456-176117456
27 HOXD10 NM_002148.3(HOXD10):c.*2T>CSNV Likely benign 332490 rs116807022 2:176983961-176983961 2:176119233-176119233
28 HOXD10 NM_002148.3(HOXD10):c.*279G>ASNV Likely benign 332504 rs150556295 2:176984238-176984238 2:176119510-176119510
29 HOXD10 NM_002148.3(HOXD10):c.*468A>TSNV Likely benign 332505 rs532592274 2:176984427-176984427 2:176119699-176119699
30 HOXD10 NM_002148.3(HOXD10):c.*585C>TSNV Likely benign 332507 rs72923454 2:176984544-176984544 2:176119816-176119816
31 HOXD10 NM_002148.3(HOXD10):c.987G>C (p.Arg329=)SNV Benign/Likely benign 332488 rs33913965 2:176983923-176983923 2:176119195-176119195
32 HOXD10 NM_002148.3(HOXD10):c.*55G>TSNV Benign 332493 rs61070787 2:176984014-176984014 2:176119286-176119286
33 HOXD10 NM_002148.3(HOXD10):c.*495A>TSNV Benign 332506 rs13403839 2:176984454-176984454 2:176119726-176119726

UniProtKB/Swiss-Prot genetic disease variations for Vertical Talus, Congenital:

73
# Symbol AA change Variation ID SNP ID
1 HOXD10 p.Met319Lys VAR_022582 rs104893634

Expression for Vertical Talus, Congenital

Search GEO for disease gene expression data for Vertical Talus, Congenital.

Pathways for Vertical Talus, Congenital

GO Terms for Vertical Talus, Congenital

Sources for Vertical Talus, Congenital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
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32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
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48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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