MCID: RDL002
MIFTS: 45

Radioulnar Synostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis

MalaCards integrated aliases for Radioulnar Synostosis:

Name: Radioulnar Synostosis 57 12 29 44 15 73
Congenital Radioulnar Synostosis 59
Radio-Ulnar Synostosis Type 1 73
Radioulnar Fusion 59

Characteristics:

Orphanet epidemiological data:

59
congenital radioulnar synostosis
Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
radioulnar synostosis:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 179300
Disease Ontology 12 DOID:9827
ICD10 33 Q74.0
ICD9CM 35 755.53
MeSH 44 C562408
SNOMED-CT 68 33313004
Orphanet 59 ORPHA3269
UMLS via Orphanet 74 C0158761 C0431795
ICD10 via Orphanet 34 Q74.0
MedGen 42 C0158761
SNOMED-CT via HPO 69 263681008 9634000

Summaries for Radioulnar Synostosis

MalaCards based summary : Radioulnar Synostosis, also known as congenital radioulnar synostosis, is related to saethre-chotzen syndrome and antley-bixler syndrome. 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 MAPK Signaling: Mitogen Stimulation Pathway. Affiliated tissues include bone, bone marrow and brain, and related phenotypes are limited elbow extension and radioulnar synostosis

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 60)
# Related Disease Score Top Affiliating Genes
1 saethre-chotzen syndrome 30.3 FGFR1 FGFR2
2 antley-bixler syndrome 29.2 FGFR1 FGFR2
3 synostosis 28.7 FGFR1 FGFR2 HOXA11 LRP4 MECOM
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 11.6
13 3mc syndrome 11.4
14 acrofacial dysostosis 1, nager type 11.2
15 cenani-lenz syndactyly syndrome 11.2
16 nievergelt syndrome 11.1
17 oslam syndrome 11.1
18 3mc syndrome 3 11.1
19 3mc syndrome 1 11.1
20 3mc syndrome 2 11.1
21 abruzzo-erickson syndrome 11.1
22 49, xxxxx 11.1
23 tetrasomy x 11.1
24 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 10.4 HOXA11 MECOM
25 williams-beuren syndrome 10.2
26 microcephaly 10.2
27 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
28 craniosynostosis 10.1
29 thrombocytopenia 10.1
30 ptosis 10.1
31 blepharophimosis 10.1
32 hemifacial hyperplasia 10.0
33 myositis 10.0
34 tracheoesophageal fistula with or without esophageal atresia 10.0
35 antley-bixler syndrome without genital anomalies or disordered steroidogenesis 10.0
36 pierre robin syndrome 10.0
37 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 10.0
38 retinitis pigmentosa and erythrocytic microcytosis 10.0
39 hydrocephalus 10.0
40 scoliosis 10.0
41 sensorineural hearing loss 10.0
42 esophageal atresia 10.0
43 esophagitis 10.0
44 azoospermia 10.0
45 myositis ossificans 10.0
46 phocomelia 10.0
47 isolated pierre robin sequence 10.0
48 head injury 10.0
49 plagiocephaly 9.6 FGFR1 FGFR2
50 osteoglophonic dysplasia 9.6 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:

57
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:

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

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

26
# 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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.91 FGFR2 HOXA11 LRP4 MECOM SALL4 FGFR1
2 craniofacial MP:0005382 9.8 FGFR1 FGFR2 LRP4 MECOM SALL4
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 MECOM SALL4 FGFR1 FGFR2 HOXA11 LRP4
8 skeleton MP:0005390 9.1 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4

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 29

Anatomical Context for Radioulnar Synostosis

MalaCards organs/tissues related to Radioulnar Synostosis:

41
Bone, Bone Marrow, Brain, Eye

Publications for Radioulnar Synostosis

Articles related to Radioulnar Synostosis:

(show top 50) (show all 118)
# Title Authors Year
1
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. ( 29200407 )
2018
2
The reverse SauvAc-Kapandji procedure for the treatment of (posttraumatic) proximal radioulnar synostosis. ( 29520493 )
2018
3
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. ( 29519864 )
2018
4
Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis. ( 29402171 )
2018
5
Posttraumatic Proximal Radioulnar Synostosis after Closed Reduction for a Radial Neck and Olecranon Fracture. ( 29805828 )
2018
6
Congenital radioulnar synostosis. ( 28828125 )
2017
7
The use of indomethacin in the prevention of postoperative radioulnar synostosis after distal biceps repair. ( 28104092 )
2017
8
Circumferential Adipofascial Graft for Prevention of Recurrence of Posttraumatic Radioulnar Synostosis. ( 29107381 )
2017
9
The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis. ( 28811948 )
2017
10
Surgical Treatment of Posttraumatic Radioulnar Synostosis. ( 26977328 )
2016
11
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
12
Minimally invasive single-session double-level rotational osteotomy of the forearm bones to correct fixed pronation deformity in congenital proximal radioulnar synostosis. ( 27312798 )
2016
13
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. ( 26598107 )
2015
14
Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis. ( 26322649 )
2015
15
Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis. ( 27163088 )
2015
16
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. ( 26581901 )
2015
17
One-stage rotational osteotomy for congenital radioulnar synostosis. ( 25827142 )
2015
18
Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis. ( 26514829 )
2015
19
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. ( 25823593 )
2015
20
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. ( 25411938 )
2015
21
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. ( 25725026 )
2015
22
Idiopathic distal radioulnar synostosis. ( 23789710 )
2014
23
Single osteotomy at the radial diaphysis for congenital radioulnar synostosis. ( 24996678 )
2014
24
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. ( 25471438 )
2014
25
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. ( 24768222 )
2014
26
Outcomes of anconeus interposition for proximal radioulnar synostosis. ( 25304042 )
2014
27
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. ( 24805776 )
2014
28
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. ( 23863412 )
2014
29
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. ( 23290465 )
2013
30
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. ( 23821677 )
2013
31
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. ( 23752153 )
2013
32
Treatment of proximal radioulnar synostosis using a posterior interosseous antegrade flow pedicled flap. ( 24071038 )
2013
33
Management of posttraumatic radioulnar synostosis. ( 22751164 )
2012
34
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). ( 22872982 )
2012
35
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. ( 22388707 )
2012
36
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. ( 21987272 )
2012
37
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. ( 22999592 )
2012
38
Adult post-traumatic radioulnar synostosis. ( 23000035 )
2012
39
The developmental spectrum of proximal radioulnar synostosis. ( 19669136 )
2010
40
The mechanism of acute elbow flexion contracture in children with congenital proximal radioulnar synostosis. ( 20357595 )
2010
41
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. ( 20684930 )
2010
42
Congenital radioulnar synostosis - case report. ( 22802806 )
2010
43
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. ( 20512175 )
2010
44
Three-dimensional motion analysis of compensatory movements in patients with radioulnar synostosis performing activities of daily living. ( 19499298 )
2009
45
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. ( 19022412 )
2009
46
Derotational osteotomy of the proximal radius and the distal ulna for congenital radioulnar synostosis. ( 19308546 )
2008
47
Congenital radioulnar synostosis, azoospermia, and pseudodicentric Y chromosome. ( 18177653 )
2008
48
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
49
Management of posttraumatic metadiaphyseal radioulnar synostosis. ( 17548013 )
2007
50
A comparison of proximal radioulnar synostosis excision after trauma and distal biceps reattachment. ( 17629506 )
2007

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 12.21 FGFR1 FGFR2 MECOM
2
Show member pathways
11.51 FGFR1 FGFR2
3 11.07 FGFR1 FGFR2
4 10.83 FGFR1 FGFR2
5 10.61 FGFR1 FGFR2
6 10.25 FGFR1 FGFR2

GO Terms for Radioulnar Synostosis

Cellular components related to Radioulnar Synostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 receptor complex GO:0043235 8.8 FGFR1 FGFR2 LRP4

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.91 FGFR1 FGFR2 LRP4 MECOM
2 in utero embryonic development GO:0001701 9.67 FGFR1 FGFR2 SALL4
3 fibroblast growth factor receptor signaling pathway GO:0008543 9.63 FGFR1 FGFR2
4 positive regulation of kinase activity GO:0033674 9.63 FGFR1 FGFR2
5 inner ear morphogenesis GO:0042472 9.62 FGFR1 FGFR2
6 embryonic digit morphogenesis GO:0042733 9.62 HOXA11 LRP4
7 bone development GO:0060348 9.61 FGFR2 HOXA11
8 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.6 FGFR1 FGFR2
9 dorsal/ventral pattern formation GO:0009953 9.59 HOXA11 LRP4
10 ureteric bud development GO:0001657 9.58 FGFR1 FGFR2
11 positive regulation of cell cycle GO:0045787 9.58 FGFR1 FGFR2
12 skeletal system morphogenesis GO:0048705 9.57 FGFR1 FGFR2
13 midbrain development GO:0030901 9.56 FGFR1 FGFR2
14 positive regulation of cardiac muscle cell proliferation GO:0060045 9.55 FGFR1 FGFR2
15 anatomical structure development GO:0048856 9.54 LRP4 MECOM
16 positive regulation of mesenchymal cell proliferation GO:0002053 9.52 FGFR1 FGFR2
17 proximal/distal pattern formation GO:0009954 9.51 HOXA11 LRP4
18 organ induction GO:0001759 9.48 FGFR1 HOXA11
19 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGFR1 FGFR2
20 mesenchymal cell differentiation GO:0048762 9.43 FGFR1 FGFR2
21 multicellular organism development GO:0007275 9.43 FGFR1 FGFR2 HOXA11 LRP4 MECOM SALL4
22 positive regulation of phospholipase activity GO:0010518 9.4 FGFR1 FGFR2
23 lung-associated mesenchyme development GO:0060484 9.37 FGFR1 FGFR2
24 orbitofrontal cortex development GO:0021769 9.32 FGFR1 FGFR2
25 ventricular zone neuroblast division GO:0021847 9.26 FGFR1 FGFR2
26 fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development GO:0035607 9.16 FGFR1 FGFR2
27 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 MAP kinase kinase kinase activity GO:0004709 9.4 FGFR1 FGFR2
2 mitogen-activated protein kinase kinase binding GO:0031434 9.37 FGFR1 FGFR2
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.32 FGFR1 FGFR2
4 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 FGFR1 FGFR2
5 1-phosphatidylinositol-3-kinase activity GO:0016303 9.16 FGFR1 FGFR2
6 fibroblast growth factor binding GO:0017134 8.96 FGFR1 FGFR2
7 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
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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