MCID: RDL002
MIFTS: 44

Radioulnar Synostosis malady

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis

Aliases & Descriptions for Radioulnar Synostosis:

Name: Radioulnar Synostosis 54 12 29 42 14 69
Congenital Radioulnar Synostosis 56
Radio-Ulnar Synostosis Type 1 69
Radioulnar Fusion 56

Characteristics:

Orphanet epidemiological data:

56
congenital radioulnar synostosis
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

HPO:

32
radioulnar synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 179300
Disease Ontology 12 DOID:9827
ICD10 33 Q74.0
ICD9CM 35 755.53
MeSH 42 C562408
SNOMED-CT 64 33313004
Orphanet 56 ORPHA3269
ICD10 via Orphanet 34 Q74.0
UMLS via Orphanet 70 C0431795
UMLS 69 C0158761

Summaries for Radioulnar Synostosis

MalaCards based summary : Radioulnar Synostosis, also known as congenital radioulnar synostosis, is related to radioulnar synostosis with amegakaryocytic thrombocytopenia and radioulnar synostosis with amegakaryocytic thrombocytopenia 2, and has symptoms including dislocated radial head and limited elbow extension. An important gene associated with Radioulnar Synostosis is MECOM (MDS1 And EVI1 Complex Locus), and among its related pathways/superpathways are MAPK signaling pathway and Pathways in cancer. Affiliated tissues include bone, eye and brain, and related phenotypes are Condensed cis-Golgi and cellular

Wikipedia : 71 Radioulnar synostosis is a rare condition where there is an abnormal connection between the radius and... more...

Description from OMIM: 179300

Related Diseases for Radioulnar Synostosis

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

(show top 50) (show all 51)
id Related Disease Score Top Affiliating Genes
1 radioulnar synostosis with amegakaryocytic thrombocytopenia 12.5
2 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.3
3 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.1
4 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.0
5 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.0
6 3mc syndrome 11.3
7 jorgenson lenz syndrome 11.2
8 acrofacial dysostosis 1, nager type 11.2
9 congenital radio-ulnar synostosis 11.1
10 tetrasomy x 11.0
11 3mc syndrome 2 11.0
12 3mc syndrome 1 11.0
13 cenani-lenz syndactyly syndrome 11.0
14 abruzzo-erickson syndrome 11.0
15 nievergelt syndrome 11.0
16 synostosis 10.9
17 asthma 2 10.1 HOXA11 MECOM
18 microcephaly 10.1
19 pkp1-related ectodermal dysplasia/skin fragility syndrome 10.1 FGFR1 FGFR2
20 pitx3-related anterior segment mesenchymal dysgenesis 10.1 FGFR1 FGFR2
21 familial porphyria cutanea tarda 10.1 FGFR1 FGFR2
22 hartsfield syndrome 10.1 FGFR1 FGFR2
23 pointer syndrome 10.1 FGFR1 FGFR2
24 osteoglophonic dysplasia 10.1 FGFR1 FGFR2
25 crouzon syndrome with acanthosis nigricans 10.1 FGFR1 FGFR2
26 epidemic typhus 10.1 FGFR1 FGFR2
27 scaphocephaly, maxillary retrusion, and mental retardation 10.1 FGFR1 FGFR2
28 apert syndrome 10.0 FGFR1 FGFR2
29 ptosis 10.0
30 blepharophimosis 10.0
31 craniosynostosis 10.0
32 cervical cancer, somatic 10.0 FGFR1 FGFR2
33 thanatophoric dysplasia, type i 10.0 FGFR1 FGFR2
34 bone structure disease 10.0 FGFR1 FGFR2
35 saddan 10.0 FGFR1 FGFR2
36 hydrocephalus 9.9
37 thrombocytopenia 9.9
38 phocomelia 9.9
39 antley-bixler syndrome 9.9
40 head injury 9.9
41 scoliosis 9.9
42 sensorineural hearing loss 9.9
43 esophageal atresia 9.9
44 williams-beuren syndrome 9.9
45 esophagitis 9.9
46 azoospermia 9.9
47 myositis 9.9
48 myositis ossificans 9.9
49 robinow-sorauf syndrome 9.9 FGFR1 FGFR2
50 atrophy of testis 9.2 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4

Graphical network of the top 20 diseases related to Radioulnar Synostosis:



Diseases related to Radioulnar Synostosis

Symptoms & Phenotypes for Radioulnar Synostosis

Symptoms by clinical synopsis from OMIM:

179300

Clinical features from OMIM:

179300

Human phenotypes related to Radioulnar Synostosis:

32
id Description HPO Frequency HPO Source Accession
1 radioulnar synostosis 32 HP:0002974
2 dislocated radial head 32 HP:0003083
3 limited elbow extension 32 HP:0001377

GenomeRNAi Phenotypes related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Condensed cis-Golgi GR00365-A 8.8 FGFR1 FGFR2 MECOM

MGI Mouse Phenotypes related to Radioulnar Synostosis:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4
2 craniofacial MP:0005382 9.8 FGFR2 LRP4 MECOM SALL4 FGFR1
3 embryo MP:0005380 9.77 FGFR1 FGFR2 LRP4 MECOM SALL4
4 limbs/digits/tail MP:0005371 9.73 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4
5 hearing/vestibular/ear MP:0005377 9.62 FGFR1 FGFR2 MECOM SALL4
6 renal/urinary system MP:0005367 9.55 FGFR1 FGFR2 HOXA11 LRP4 SALL4
7 reproductive system MP:0005389 9.43 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4
8 skeleton MP:0005390 9.1 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4

Drugs & Therapeutics for Radioulnar Synostosis

Interventional clinical trials:


id Name Status NCT ID Phase
1 Cancer in Inherited Bone Marrow Failure Syndromes Recruiting NCT00027274

Search NIH Clinical Center for Radioulnar Synostosis

Cochrane evidence based reviews: radioulnar synostosis

Genetic Tests for Radioulnar Synostosis

Genetic tests related to Radioulnar Synostosis:

id Genetic test Affiliating Genes
1 Radioulnar Synostosis 29

Anatomical Context for Radioulnar Synostosis

MalaCards organs/tissues related to Radioulnar Synostosis:

39
Bone, Eye, Brain

Publications for Radioulnar Synostosis

Articles related to Radioulnar Synostosis:

(show top 50) (show all 109)
id Title Authors Year
1
Surgical Treatment of Posttraumatic Radioulnar Synostosis. ( 26977328 )
2016
2
Long-term results after a free vascularized adipofascial graft for congenital proximal radioulnar synostosis with an average follow-up of 10 years: a series of four cases. ( 27422459 )
2016
3
Minimally invasive single-session double-level rotational osteotomy of the forearm bones to correct fixed pronation deformity in congenital proximal radioulnar synostosis. ( 27312798 )
2016
4
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. ( 26581901 )
2015
5
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. ( 25823593 )
2015
6
Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis. ( 26514829 )
2015
7
Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis. ( 26322649 )
2015
8
One-stage rotational osteotomy for congenital radioulnar synostosis. ( 25827142 )
2015
9
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. ( 25411938 )
2015
10
Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis. ( 27163088 )
2015
11
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. ( 26598107 )
2015
12
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. ( 25725026 )
2015
13
Outcomes of anconeus interposition for proximal radioulnar synostosis. ( 25304042 )
2014
14
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. ( 24805776 )
2014
15
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. ( 24768222 )
2014
16
Single osteotomy at the radial diaphysis for congenital radioulnar synostosis. ( 24996678 )
2014
17
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. ( 23863412 )
2014
18
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. ( 25471438 )
2014
19
Idiopathic distal radioulnar synostosis. ( 23789710 )
2014
20
Treatment of proximal radioulnar synostosis using a posterior interosseous antegrade flow pedicled flap. ( 24071038 )
2013
21
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. ( 23290465 )
2013
22
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. ( 23821677 )
2013
23
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. ( 23752153 )
2013
24
Adult post-traumatic radioulnar synostosis. ( 23000035 )
2012
25
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). ( 22872982 )
2012
26
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. ( 21987272 )
2012
27
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. ( 22388707 )
2012
28
Management of posttraumatic radioulnar synostosis. ( 22751164 )
2012
29
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. ( 22999592 )
2012
30
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. ( 20512175 )
2010
31
The mechanism of acute elbow flexion contracture in children with congenital proximal radioulnar synostosis. ( 20357595 )
2010
32
The developmental spectrum of proximal radioulnar synostosis. ( 19669136 )
2010
33
Congenital radioulnar synostosis - case report. ( 22802806 )
2010
34
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. ( 20684930 )
2010
35
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. ( 19022412 )
2009
36
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. ( 19499298 )
2009
37
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. ( 19308546 )
2008
38
Blepharophimosis, blepharoptosis, defects of the anterior chamber of the eye, caudal appendage, radioulnar synostosis, hearing loss and umbilical anomalies in sibs: 3MC syndrome? ( 18266249 )
2008
39
Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. ( 18177653 )
2008
40
Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex. ( 17189852 )
2007
41
Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis. ( 18260481 )
2007
42
Management of posttraumatic metadiaphyseal radioulnar synostosis. ( 17548013 )
2007
43
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. ( 17629506 )
2007
44
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. ( 16681404 )
2006
45
In vivo three-dimensional motion analysis of the forearm with radioulnar synostosis treated by the Kanaya procedure. ( 16602108 )
2006
46
Heterotopic ossification causing proximal radioulnar synostosis after insertion of a radial head prosthesis. ( 16753242 )
2006
47
The use of tensor fascia lata interposition grafts for the treatment of posttraumatic radioulnar synostosis. ( 16713843 )
2006
48
Rotational osteotomy at the diaphysis of the radius in the treatment of congenital radioulnar synostosis. ( 16199954 )
2005
49
Rotational osteotomies for congenital radioulnar synostosis. ( 16189317 )
2005
50
Congenital radioulnar synostosis treated using a microvascular free fasio-fat flap. ( 15880988 )
2005

Variations for Radioulnar Synostosis

Expression for Radioulnar Synostosis

Search GEO for disease gene expression data for Radioulnar Synostosis.

Pathways for Radioulnar Synostosis

Pathways related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 12.13 FGFR1 FGFR2 MECOM
2 11.93 FGFR1 FGFR2 MECOM
3 11.07 FGFR1 FGFR2
4 10.63 FGFR1 FGFR2
5 10.28 FGFR1 FGFR2

GO Terms for Radioulnar Synostosis

Biological processes related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

(show all 21)
id Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.69 FGFR1 FGFR2 SALL4
2 inner ear morphogenesis GO:0042472 9.6 FGFR1 FGFR2
3 embryonic digit morphogenesis GO:0042733 9.59 HOXA11 LRP4
4 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.58 FGFR1 FGFR2
5 dorsal/ventral pattern formation GO:0009953 9.58 HOXA11 LRP4
6 ureteric bud development GO:0001657 9.57 FGFR1 FGFR2
7 skeletal system morphogenesis GO:0048705 9.56 FGFR1 FGFR2
8 positive regulation of cell cycle GO:0045787 9.55 FGFR1 FGFR2
9 midbrain development GO:0030901 9.54 FGFR1 FGFR2
10 positive regulation of mesenchymal cell proliferation GO:0002053 9.52 FGFR1 FGFR2
11 proximal/distal pattern formation GO:0009954 9.49 HOXA11 LRP4
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.48 FGFR1 FGFR2
13 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGFR1 FGFR2
14 organ induction GO:0001759 9.43 FGFR1 HOXA11
15 lung-associated mesenchyme development GO:0060484 9.4 FGFR1 FGFR2
16 mesenchymal cell differentiation GO:0048762 9.37 FGFR1 FGFR2
17 positive regulation of phospholipase activity GO:0010518 9.32 FGFR1 FGFR2
18 orbitofrontal cortex development GO:0021769 9.26 FGFR1 FGFR2
19 ventricular zone neuroblast division GO:0021847 9.16 FGFR1 FGFR2
20 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 8.96 FGFR1 FGFR2
21 embryonic limb morphogenesis GO:0030326 8.92 FGFR1 HOXA11 LRP4 SALL4

Molecular functions related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.32 FGFR1 FGFR2
2 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 FGFR1 FGFR2
3 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGFR1 FGFR2
4 fibroblast growth factor binding GO:0017134 8.96 FGFR1 FGFR2
5 fibroblast growth factor-activated receptor activity GO:0005007 8.62 FGFR1 FGFR2

Sources for Radioulnar Synostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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