MCID: RDL002
MIFTS: 46

Radioulnar Synostosis

Categories: Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Radioulnar Synostosis

MalaCards integrated aliases for Radioulnar Synostosis:

Name: Radioulnar Synostosis 53 12 28 41 14 69
Congenital Radioulnar Synostosis 55
Radio-Ulnar Synostosis Type 1 69
Radioulnar Fusion 55

Characteristics:

Orphanet epidemiological data:

55
congenital radioulnar synostosis
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
radioulnar synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 179300
Disease Ontology 12 DOID:9827
ICD10 32 Q74.0
ICD9CM 34 755.53
MeSH 41 C562408
SNOMED-CT 64 33313004
Orphanet 55 ORPHA3269
UMLS via Orphanet 70 C0431795 C0158761
ICD10 via Orphanet 33 Q74.0
MedGen 39 C0158761
SNOMED-CT via HPO 65 263681008 9634000

Summaries for Radioulnar Synostosis

MalaCards based summary : Radioulnar Synostosis, also known as congenital radioulnar synostosis, is related to saethre-chotzen syndrome and synostosis, and has symptoms including limited elbow extension and dislocated radial head. 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 Central carbon metabolism in cancer. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are Condensed cis-Golgi and cellular

Description from OMIM: 179300

Related Diseases for Radioulnar Synostosis

Diseases in the Radioulnar Synostosis family:

Congenital Radioulnar Synostosis

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

(show top 50) (show all 56)
# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 30.8 FGFR1 FGFR2
2 synostosis 29.7 FGFR1 FGFR2 HOXA11 LRP4 MECOM
3 antley-bixler syndrome 29.5 FGFR1 FGFR2
4 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.6
5 congenital radioulnar synostosis 12.6
6 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.5
7 radioulnar synostosis-microcephaly-scoliosis syndrome 12.5
8 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.3
9 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.2
10 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.1
11 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.1
12 jorgenson lenz syndrome 11.7
13 3mc syndrome 11.4
14 acrofacial dysostosis 1, nager type 11.3
15 cenani-lenz syndactyly syndrome 11.3
16 oslam syndrome 11.1
17 3mc syndrome 3 11.1
18 3mc syndrome 1 11.1
19 3mc syndrome 2 11.1
20 abruzzo-erickson syndrome 11.1
21 tetrasomy x 11.1
22 nievergelt syndrome 11.1
23 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 10.2 HOXA11 MECOM
24 williams-beuren syndrome 10.2
25 microcephaly 10.2
26 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
27 craniosynostosis 10.1
28 thrombocytopenia 10.1
29 ptosis 10.1
30 blepharophimosis 10.1
31 myositis 10.0
32 tracheoesophageal fistula with or without esophageal atresia 10.0
33 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0
34 pierre robin syndrome 10.0
35 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 10.0
36 episodic pain syndrome, familial, 1 10.0
37 hydrocephalus 10.0
38 scoliosis 10.0
39 sensorineural hearing loss 10.0
40 esophageal atresia 10.0
41 esophagitis 10.0
42 azoospermia 10.0
43 myositis ossificans 10.0
44 phocomelia 10.0
45 head injury 10.0
46 plagiocephaly 9.7 FGFR1 FGFR2
47 osteoglophonic dysplasia 9.7 FGFR1 FGFR2
48 jackson-weiss syndrome 9.7 FGFR1 FGFR2
49 hypochondroplasia 9.7 FGFR1 FGFR2
50 apert syndrome 9.7 FGFR1 FGFR2

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



Diseases related to Radioulnar Synostosis

Symptoms & Phenotypes for Radioulnar Synostosis

Symptoms via clinical synopsis from OMIM:

53
Limbs:
radioulnar synostosis

Radiology:
proximal, smooth radioulnar fusion with absent radial head
(type 1)
radioulnar fusion distal to the proximal radial epiphysis with congenital radial head dislocation (type 2)

Joints:
limited forearm pronation and supination
limited elbow extension in type 2


Clinical features from OMIM:

179300

Human phenotypes related to Radioulnar Synostosis:

31
# Description HPO Frequency HPO Source Accession
1 radioulnar synostosis 31 HP:0002974
2 limited elbow extension 31 HP:0001377
3 dislocated radial head 31 HP:0003083

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

25
# 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:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 FGFR2 HOXA11 LRP4 MECOM FGFR1 SALL4
2 craniofacial MP:0005382 9.8 LRP4 MECOM FGFR1 SALL4 FGFR2
3 embryo MP:0005380 9.77 LRP4 MECOM FGFR1 SALL4 FGFR2
4 limbs/digits/tail MP:0005371 9.73 HOXA11 LRP4 MECOM FGFR1 SALL4 FGFR2
5 hearing/vestibular/ear MP:0005377 9.62 MECOM FGFR1 SALL4 FGFR2
6 renal/urinary system MP:0005367 9.55 HOXA11 LRP4 FGFR1 SALL4 FGFR2
7 reproductive system MP:0005389 9.43 HOXA11 LRP4 MECOM FGFR1 SALL4 FGFR2
8 skeleton MP:0005390 9.1 HOXA11 LRP4 MECOM FGFR1 SALL4 FGFR2

Drugs & Therapeutics for Radioulnar Synostosis

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
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:

# Genetic test Affiliating Genes
1 Radioulnar Synostosis 28

Anatomical Context for Radioulnar Synostosis

MalaCards organs/tissues related to Radioulnar Synostosis:

38
Bone, Bone Marrow, Brain, Eye

Publications for Radioulnar Synostosis

Articles related to Radioulnar Synostosis:

(show top 50) (show all 115)
# Title Authors Year
1
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. ( 29200407 )
2018
2
Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis. ( 29402171 )
2018
3
The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis. ( 28811948 )
2017
4
The use of indomethacin in the prevention of postoperative radioulnar synostosis after distal biceps repair. ( 28104092 )
2017
5
Congenital radioulnar synostosis. ( 28828125 )
2017
6
Circumferential Adipofascial Graft for Prevention of Recurrence of Posttraumatic Radioulnar Synostosis. ( 29107381 )
2017
7
Surgical Treatment of Posttraumatic Radioulnar Synostosis. ( 26977328 )
2016
8
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
9
Minimally invasive single-session double-level rotational osteotomy of the forearm bones to correct fixed pronation deformity in congenital proximal radioulnar synostosis. ( 27312798 )
2016
10
Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis. ( 26514829 )
2015
11
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. ( 25823593 )
2015
12
Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis. ( 26322649 )
2015
13
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. ( 26581901 )
2015
14
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. ( 25411938 )
2015
15
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. ( 26598107 )
2015
16
One-stage rotational osteotomy for congenital radioulnar synostosis. ( 25827142 )
2015
17
Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis. ( 27163088 )
2015
18
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. ( 25725026 )
2015
19
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. ( 24805776 )
2014
20
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. ( 25471438 )
2014
21
Single osteotomy at the radial diaphysis for congenital radioulnar synostosis. ( 24996678 )
2014
22
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. ( 24768222 )
2014
23
Idiopathic distal radioulnar synostosis. ( 23789710 )
2014
24
Outcomes of anconeus interposition for proximal radioulnar synostosis. ( 25304042 )
2014
25
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. ( 23863412 )
2014
26
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. ( 23290465 )
2013
27
Treatment of proximal radioulnar synostosis using a posterior interosseous antegrade flow pedicled flap. ( 24071038 )
2013
28
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. ( 23752153 )
2013
29
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. ( 23821677 )
2013
30
Management of posttraumatic radioulnar synostosis. ( 22751164 )
2012
31
Adult post-traumatic radioulnar synostosis. ( 23000035 )
2012
32
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. ( 22388707 )
2012
33
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. ( 21987272 )
2012
34
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). ( 22872982 )
2012
35
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. ( 22999592 )
2012
36
The developmental spectrum of proximal radioulnar synostosis. ( 19669136 )
2010
37
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. ( 20512175 )
2010
38
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. ( 20684930 )
2010
39
Congenital radioulnar synostosis - case report. ( 22802806 )
2010
40
The mechanism of acute elbow flexion contracture in children with congenital proximal radioulnar synostosis. ( 20357595 )
2010
41
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. ( 19499298 )
2009
42
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. ( 19022412 )
2009
43
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
44
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. ( 19308546 )
2008
45
Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. ( 18177653 )
2008
46
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. ( 17629506 )
2007
47
Congenital proximal radioulnar synostosis associated with bilateral hypoplasia of the scaphoid bone, bilateral os lunatotriquetrum, and anomalies of the carpometacarpal complex. ( 17189852 )
2007
48
Two-stage double-level rotational osteotomy in the treatment of congenital radioulnar synostosis. ( 18260481 )
2007
49
Management of posttraumatic metadiaphyseal radioulnar synostosis. ( 17548013 )
2007
50
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. ( 16681404 )
2006

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:

# Super pathways Score Top Affiliating Genes
1 12.16 FGFR1 FGFR2 MECOM
2 11.07 FGFR1 FGFR2
3 10.83 FGFR1 FGFR2
4 10.61 FGFR1 FGFR2
5 10.25 FGFR1 FGFR2

GO Terms for Radioulnar Synostosis

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

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 in utero embryonic development GO:0001701 9.65 FGFR1 FGFR2 SALL4
2 fibroblast growth factor receptor signaling pathway GO:0008543 9.61 FGFR1 FGFR2
3 inner ear morphogenesis GO:0042472 9.61 FGFR1 FGFR2
4 embryonic digit morphogenesis GO:0042733 9.6 HOXA11 LRP4
5 bone development GO:0060348 9.59 FGFR2 HOXA11
6 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.58 FGFR1 FGFR2
7 ureteric bud development GO:0001657 9.58 FGFR1 FGFR2
8 skeletal system morphogenesis GO:0048705 9.57 FGFR1 FGFR2
9 dorsal/ventral pattern formation GO:0009953 9.56 HOXA11 LRP4
10 positive regulation of cell cycle GO:0045787 9.55 FGFR1 FGFR2
11 midbrain development GO:0030901 9.54 FGFR1 FGFR2
12 positive regulation of cardiac muscle cell proliferation GO:0060045 9.52 FGFR1 FGFR2
13 positive regulation of mesenchymal cell proliferation GO:0002053 9.51 FGFR1 FGFR2
14 proximal/distal pattern formation GO:0009954 9.49 HOXA11 LRP4
15 organ induction GO:0001759 9.46 FGFR1 HOXA11
16 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGFR1 FGFR2
17 mesenchymal cell differentiation GO:0048762 9.4 FGFR1 FGFR2
18 positive regulation of phospholipase activity GO:0010518 9.37 FGFR1 FGFR2
19 lung-associated mesenchyme development GO:0060484 9.32 FGFR1 FGFR2
20 orbitofrontal cortex development GO:0021769 9.26 FGFR1 FGFR2
21 ventricular zone neuroblast division GO:0021847 9.16 FGFR1 FGFR2
22 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 8.96 FGFR1 FGFR2
23 embryonic limb morphogenesis GO:0030326 8.92 FGFR1 HOXA11 LRP4 SALL4

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

# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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