MCID: CNT108
MIFTS: 14

Central Polydactyly

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Central Polydactyly

MalaCards integrated aliases for Central Polydactyly:

Name: Central Polydactyly 58
Mesoaxial Polydactyly 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

ICD10 via Orphanet 33 Q69.0
UMLS via Orphanet 71 C0431903
Orphanet 58 ORPHA295004

Summaries for Central Polydactyly

MalaCards based summary : Central Polydactyly, also known as mesoaxial polydactyly, is related to split-foot malformation with mesoaxial polydactyly and pallister-hall syndrome. An important gene associated with Central Polydactyly is CPLANE1 (Ciliogenesis And Planar Polarity Effector 1).

Related Diseases for Central Polydactyly

Diseases in the Polydactyly family:

Central Polydactyly

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

(show all 14)
# Related Disease Score Top Affiliating Genes
1 split-foot malformation with mesoaxial polydactyly 11.8
2 pallister-hall syndrome 11.3
3 holzgreve syndrome 11.2
4 bardet-biedl syndrome 17 11.2
5 joubert syndrome 36 11.1
6 orofaciodigital syndrome vi 11.1
7 polydactyly 10.4
8 chromosome 2q35 duplication syndrome 10.1
9 retinitis pigmentosa 10.1
10 neuroretinitis 10.1
11 bardet-biedl syndrome 10.1
12 retinitis 10.1
13 holt-oram syndrome 10.0
14 synpolydactyly 1 9.8

Graphical network of the top 20 diseases related to Central Polydactyly:



Diseases related to Central Polydactyly

Symptoms & Phenotypes for Central Polydactyly

Drugs & Therapeutics for Central Polydactyly

Search Clinical Trials , NIH Clinical Center for Central Polydactyly

Genetic Tests for Central Polydactyly

Anatomical Context for Central Polydactyly

Publications for Central Polydactyly

Articles related to Central Polydactyly:

(show top 50) (show all 69)
# Title Authors PMID Year
1
Mid-term foot function and pedobarographic analysis of 52 feet after polydactyly resection in childhood. 61
33517731 2021
2
Surgical management and postoperative evaluation based on morphological classification in central polydactyly of the foot. 61
33558104 2021
3
Novel heterozygous sequence variant in the GLI1 underlies postaxial polydactyly. 61
31621941 2020
4
Central Mirror Foot: Treatment and Review of the Literature. 61
32642361 2020
5
Isolated hexadactylia: A rare case of central polydactyly of the foot. 61
31731072 2020
6
A Case of Nonsyndromic Unilateral Cleft Hand with Central Polydactyly, Syndactyly, and Thumb Hypoplasia: Support for a Common Etiology. 61
31814667 2019
7
Exome sequencing revealed a novel loss-of-function variant in the GLI3 transcriptional activator 2 domain underlies nonsyndromic postaxial polydactyly. 61
31115189 2019
8
Pallister-Hall Syndrome Presenting in Adolescence. 61
31011455 2019
9
Novel mutations in the ciliopathy-associated gene CPLANE1 (C5orf42) cause OFD syndrome type VI rather than Joubert syndrome. 61
29605658 2018
10
Treatment of the Mirror Foot with Central Ray Resection: Report of 2 Cases. 61
30214109 2018
11
Polydactyly of the Hand. 61
29309292 2018
12
Clinical Genetics of Polydactyly: An Updated Review. 61
30459804 2018
13
Isolated heptadactylia: A case report of central polydactyly of the foot. 61
29049244 2017
14
Orofacial manifestations and dental considerations in association with Varadi-Papp syndrome: report of a rare case. 61
26159782 2016
15
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral-facial-digital syndrome type VI. 61
25846457 2015
16
Association of oral-facial-digital syndrome type VI (Varadi-Papp syndrome) with optochiasmatic pilocytic astrocytoma. 61
25252823 2015
17
The Classification of Swanson for Congenital Anomalies of Upper Limb Modified by the Japanese Society for Surgery of the Hand (JSSH). 61
26094485 2015
18
Oral-facial-digital syndrome type VI: is C5orf42 really the major gene? 61
25407461 2015
19
New insights into genotype-phenotype correlation for GLI3 mutations. 61
24736735 2015
20
Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations. 61
23692385 2014
21
A novel mutation (g.106737G>T) in zone of polarizing activity regulatory sequence (ZRS) causes variable limb phenotypes in Werner mesomelia. 61
24478176 2014
22
Central polydactyly of the foot: surgical management with plantar and dorsal advancement flaps. 61
24045588 2014
23
C5orf42 is the major gene responsible for OFD syndrome type VI. 61
24178751 2014
24
Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome. 61
23523602 2013
25
Varadi Papp syndrome, an unusual variant of oral-facial-digital syndrome: Report of a rare case. 61
23956587 2013
26
Orofaciodigital syndrome type-VI (Varadi-Papp syndrome) with several Y-shaped metacarpals. 61
23716954 2012
27
Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome. 61
22178368 2012
28
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 61
22236771 2012
29
[Clinical implication of residual mesoaxial polydactyly of the foot--case report]. 61
22519282 2011
30
Occurrence of central polydactyly, syndactyly, and cleft hand in a single family: report of five hands in three cases. 61
19762166 2009
31
Duplication. 61
19380061 2009
32
Early morphological changes leading to central polydactyly, syndactyly, and central deficiencies: an experimental study in rats. 61
17996777 2007
33
Busulfan-induced central polydactyly, syndactyly and cleft hand or foot: a common mechanism of disruption leads to divergent phenotypes. 61
17661743 2007
34
Clinical features and teratogenic mechanisms of congenital absence of digits. 61
17555519 2007
35
Clinical phenotype associated with homozygosity for a HOXD13 7-residue polyalanine tract expansion. 61
16497573 2006
36
[25 years' history of Váradi-Papp syndrome (orofaciodigital syndrome VI]. 61
16265870 2005
37
Psychiatric and neuropsychological characterization of Pallister-Hall syndrome. 61
15617553 2005
38
Cleft hands with six metacarpals. 61
15249100 2004
39
An unusual and nonclassified central polydactyly of the foot. 61
15211207 2004
40
The treatment of crossbones of the hand. 61
15162315 2004
41
Teratogenic mechanisms of longitudinal deficiency and cleft hand. 61
15162308 2004
42
Replicated anterior zeugopod (raz): a polydactylous mouse mutant with lowered Shh signaling in the limb bud. 61
14597572 2003
43
An I47L substitution in the HOXD13 homeodomain causes a novel human limb malformation by producing a selective loss of function. 61
12620993 2003
44
Complex bilateral polysyndactyly featuring a triplet of delta phalanges in a syndactylised digit. 61
12522625 2002
45
Duplicated longitudinal bracketed epiphysis 'kissing delta phalanx' in the hand. 61
12074612 2002
46
Pallister-Hall syndrome phenotype in mice mutant for Gli3. 61
11978771 2002
47
The synpolydactyly homolog (spdh) mutation in the mouse -- a defect in patterning and growth of limb cartilage elements. 61
11850178 2002
48
Classification for congenital anomalies of the hand: the IFSSH classification and the JSSH modification. 61
12416642 2002
49
Long-term treatment with growth hormone improves final height in a patient with Pallister-Hall syndrome. 61
11241471 2001
50
Pallister-Hall Syndrome 61
20301638 2000

Variations for Central Polydactyly

Expression for Central Polydactyly

Search GEO for disease gene expression data for Central Polydactyly.

Pathways for Central Polydactyly

GO Terms for Central Polydactyly

Sources for Central Polydactyly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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