MCID: SYN086
MIFTS: 26

Synostoses, Tarsal, Carpal, and Digital

Categories: Rare diseases, Bone diseases

Aliases & Classifications for Synostoses, Tarsal, Carpal, and Digital

MalaCards integrated aliases for Synostoses, Tarsal, Carpal, and Digital:

Name: Synostoses, Tarsal, Carpal, and Digital 57 53
Calcaneonavicular Coalition 57 12 53 15
Multiple Synostosis Syndrome 12 73
Synostoses, Tarsal, Carpal and Digital 12

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
synostoses, tarsal, carpal, and digital:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 186400
Disease Ontology 12 DOID:14762
SNOMED-CT 68 62628008
MedGen 42 C1876184
UMLS 73 C0175700

Summaries for Synostoses, Tarsal, Carpal, and Digital

Disease Ontology : 12 A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet.

MalaCards based summary : Synostoses, Tarsal, Carpal, and Digital, also known as calcaneonavicular coalition, is related to multiple synostoses syndrome and synostosis. An important gene associated with Synostoses, Tarsal, Carpal, and Digital is SSR2 (Signal Sequence Receptor Subunit 2). Affiliated tissues include bone, and related phenotypes are underdeveloped nasal alae and anonychia

Description from OMIM: 186400

Related Diseases for Synostoses, Tarsal, Carpal, and Digital

Diseases related to Synostoses, Tarsal, Carpal, and Digital via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 multiple synostoses syndrome 10.9
2 synostosis 10.2
3 spasticity 10.1
4 humeroradial synostosis 9.7
5 tarsal coalition 9.7
6 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 9.7
7 proximal symphalangism 9.7
8 hypogonadotropic hypogonadism 9.7
9 hypogonadism 9.7
10 hypogonadotropism 9.7

Graphical network of the top 20 diseases related to Synostoses, Tarsal, Carpal, and Digital:



Diseases related to Synostoses, Tarsal, Carpal, and Digital

Symptoms & Phenotypes for Synostoses, Tarsal, Carpal, and Digital

Symptoms via clinical synopsis from OMIM:

57
Limbs:
carpal synostosis
tarsal synostosis
digital synostosis
radial-head subluxation
aplasia/hypoplasia of middle phalanges
more
Nose:
hypoplastic alae nasae

Nails:
absent nails


Clinical features from OMIM:

186400

Human phenotypes related to Synostoses, Tarsal, Carpal, and Digital:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 underdeveloped nasal alae 32 HP:0000430
2 anonychia 32 HP:0001798
3 radial head subluxation 32 HP:0003048
4 metacarpophalangeal synostosis 32 HP:0005880
5 tarsal synostosis 32 HP:0008368
6 carpal synostosis 32 HP:0009702
7 aplasia/hypoplasia of the middle phalanges of the hand 32 HP:0009843
8 short metacarpal 32 HP:0010049

Drugs & Therapeutics for Synostoses, Tarsal, Carpal, and Digital

Search Clinical Trials , NIH Clinical Center for Synostoses, Tarsal, Carpal, and Digital

Genetic Tests for Synostoses, Tarsal, Carpal, and Digital

Anatomical Context for Synostoses, Tarsal, Carpal, and Digital

MalaCards organs/tissues related to Synostoses, Tarsal, Carpal, and Digital:

41
Bone

Publications for Synostoses, Tarsal, Carpal, and Digital

Articles related to Synostoses, Tarsal, Carpal, and Digital:

(show all 29)
# Title Authors Year
1
Fat Graft and Bone Wax Interposition Provides Better Functional Outcomes and Lower Reossification Rates Than Extensor Digitorum Brevis After Calcaneonavicular Coalition Resection. ( 28777279 )
2017
2
Calcaneonavicular Coalition with Naviculocuneiform and Cuneiform-First Metatarsal Coalitions A Case Report. ( 27281323 )
2016
3
Calcaneonavicular Coalition Resection With Pes Planovalgus Reconstruction. ( 26964697 )
2016
4
Arthroscopic Resection of a Bilateral Calcaneonavicular Coalition in a Child. ( 26364235 )
2015
5
Tibialis Spastic Varus Foot With Calcaneonavicular Coalition: A Case Report and Review of the Literature. ( 25655516 )
2015
6
Resection interposition arthroplasty of calcaneonavicular coalition using a lateral supramalleolar adipofascial flap: case report. ( 22525454 )
2013
7
Arthroscopic resection of calcaneonavicular coalition/malunion via a modified sinus tarsi approach: an early case series. ( 23093122 )
2012
8
Arthroscopic treatment of calcaneonavicular coalition in children. ( 21700521 )
2011
9
Child calcaneonavicular coalitions: MRI diagnostic value in a 19-case series. ( 21233034 )
2011
10
Stress fracture of the anterior process of the calcaneus associated with a calcaneonavicular coalition: a case report. ( 21288439 )
2011
11
Endoscopic resection of a calcaneonavicular coalition. ( 20182864 )
2010
12
Calcaneonavicular coalition: treatment by excision and fat graft. ( 19568010 )
2009
13
Experimental model in cadavera of arthroscopic resection of calcaneonavicular coalition and its first in-vivo application: preliminary communication. ( 19623084 )
2009
14
Calcaneonavicular coalition resection with extensor digitorum brevis interposition in adults. ( 17697653 )
2007
15
Arthroscopic resection of the calcaneonavicular coalition or the "too long" anterior process of the calcaneus. ( 16904593 )
2006
16
Stress fracture in the presence of a calcaneonavicular coalition: a case report. ( 16701059 )
2006
17
Calcaneus secundarius presenting as calcaneonavicular coalition: a case report. ( 16399555 )
2006
18
Features of calcaneonavicular coalition on coronal computed tomography. ( 10963427 )
2000
19
Resectional arthroplasty: treatment for calcaneonavicular coalition. ( 9470111 )
1998
20
Success of calcaneonavicular coalition resection in the adult population. ( 8886787 )
1996
21
Case presentation of calcaneonavicular coalition in monozygotic twins. ( 8885606 )
1996
22
Fracture of the tarsal navicular associated with calcaneonavicular coalition: a case report. ( 8749353 )
1995
23
Calcaneonavicular coalition treated by resection and interposition of the extensor digitorum brevis muscle. ( 2104855 )
1990
24
Subtalar dislocation associated with calcaneonavicular coalition: a case report. ( 2163710 )
1990
25
[Calcaneonavicular coalition and its treatment]. ( 2631489 )
1989
26
Roentgen rounds #91. Calcaneonavicular coalition. ( 3141881 )
1987
27
The "anteater nose": a direct sign of calcaneonavicular coalition on the lateral radiograph. ( 3429658 )
1987
28
Surgical reconstruction for calcaneonavicular coalition. Evaluation of function and gait. ( 6806302 )
1982
29
Bilateral calcaneonavicular coalition occurring in twin boys. A case report. ( 5923185 )
1966

Variations for Synostoses, Tarsal, Carpal, and Digital

Expression for Synostoses, Tarsal, Carpal, and Digital

Search GEO for disease gene expression data for Synostoses, Tarsal, Carpal, and Digital.

Pathways for Synostoses, Tarsal, Carpal, and Digital

GO Terms for Synostoses, Tarsal, Carpal, and Digital

Sources for Synostoses, Tarsal, Carpal, and Digital

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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