MCID: CNG514
MIFTS: 24

Congenital Radioulnar Synostosis

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Congenital Radioulnar Synostosis

MalaCards integrated aliases for Congenital Radioulnar Synostosis:

Name: Congenital Radioulnar Synostosis 54
Radioulnar Synostosis 54 74
Radio-Ulnar Synostosis Type 1 74
Radial-Ulnar Synostosis 54
Radio-Ulnar Synostosis 54

Classifications:



External Ids:

Summaries for Congenital Radioulnar Synostosis

NIH Rare Diseases : 54 Congenital radioulnar synostosis is a rare condition in which there is an abnormal connection (synostosis) of the radius and ulna (bones in the forearm) at birth. The condition is present in both arms (bilateral) in approximately 60% of cases. Signs and symptoms depend on the severity of the abnormality and whether it is bilateral; people with the condition often have limited rotational movement of the forearm. Pain is usually not present until the teenage years. There are 2 types of radioulnar synostosis: type 1 and type 2. In type 1, the fusion involves 2-6 cm of the area between the radius and ulna bones which is closer to the elbow and the knobby end of the radius that meets the elbow is absent (radial head). In type 2, the fusion is farther from the elbow and there is dislocation of the radial head. Both types result in a limitation of inward roll (pronation) and outward roll (supination) of the forearm, and in type 2 there is also a restriction of extension at the elbow. Congenital radioulnar synostosis is due to abnormal fetal development of the forearm bones, but the underlying cause is not always known. It is sometimes a feature of certain chromosome abnormalities or genetic syndromes. Some cases appear to be inherited in an autosomal dominant manner. Treatment may be conservative or involve surgery depending on the severity of the abnormality and the range of motion.

MalaCards based summary : Congenital Radioulnar Synostosis, also known as radioulnar synostosis, is related to radioulnar synostosis with amegakaryocytic thrombocytopenia 1 and radioulnar synostosis with amegakaryocytic thrombocytopenia 2. Affiliated tissues include bone, bone marrow and brain.

Related Diseases for Congenital Radioulnar Synostosis

Diseases in the Radioulnar Synostosis family:

Congenital Radioulnar Synostosis

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

(show top 50) (show all 66)
# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis with amegakaryocytic thrombocytopenia 1 12.8
2 radioulnar synostosis with amegakaryocytic thrombocytopenia 2 12.8
3 radioulnar synostosis-microcephaly-scoliosis syndrome 12.7
4 radio-ulnar synostosis type 1 12.6
5 radio-ulnar synostosis type 2 12.6
6 congenital heart disease radio ulnar synostosis mental retardation 12.5
7 radio-ulnar synostosis, unilateral 12.5
8 radio-ulnar synostosis, bilateral 12.5
9 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 12.5
10 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 12.5
11 radioulnar synostosis, radial ray abnormalities, and severe malformations in the male 12.4
12 radioulnar synostosis, unilateral, with developmental retardation and hypotonia 12.3
13 craniosynostosis-hydrocephalus-arnold-chiari malformation type i-radioulnar synostosis syndrome 12.3
14 der kaloustian mcintosh silver syndrome 11.8
15 humeroradioulnar synostosis 11.8
16 radioulnar synostosis 11.8
17 jorgenson lenz syndrome 11.8
18 3mc syndrome 1 11.6
19 3mc syndrome 11.6
20 48,xyyy 11.6
21 absence of tibia with polydactyly 11.6
22 acrofacial dysostosis 1, nager type 11.4
23 cenani-lenz syndactyly syndrome 11.4
24 nievergelt syndrome 11.3
25 saethre-chotzen syndrome 11.3
26 oslam syndrome 11.3
27 3mc syndrome 3 11.3
28 3mc syndrome 2 11.3
29 abruzzo-erickson syndrome 11.3
30 49, xxxxx 11.3
31 tetrasomy x 11.3
32 synostosis 10.9
33 hypotonia 10.5
34 williams-beuren syndrome 10.4
35 thrombocytopenia 10.4
36 ptosis 10.4
37 microcephaly 10.4
38 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
39 craniosynostosis 10.3
40 blepharophimosis 10.3
41 47,xyy 10.3
42 alagille syndrome 1 10.2
43 microcephaly, autosomal dominant 10.2
44 cohen syndrome 10.2
45 myositis 10.2
46 tracheoesophageal fistula with or without esophageal atresia 10.2
47 pierre robin syndrome 10.2
48 pseudoarthrosis 10.2
49 esophageal atresia 10.2
50 azoospermia 10.2

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



Diseases related to Congenital Radioulnar Synostosis

Symptoms & Phenotypes for Congenital Radioulnar Synostosis

Drugs & Therapeutics for Congenital 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 Congenital Radioulnar Synostosis

Genetic Tests for Congenital Radioulnar Synostosis

Anatomical Context for Congenital Radioulnar Synostosis

MalaCards organs/tissues related to Congenital Radioulnar Synostosis:

42
Bone, Bone Marrow, Brain, Eye, Heart

Publications for Congenital Radioulnar Synostosis

Articles related to Congenital Radioulnar Synostosis:

(show top 50) (show all 124)
# Title Authors Year
1
Treating bilateral congenital radioulnar synostosis using the reverse Sauvé-Kapandji procedure. ( 30776944 )
2019
2
Efficacy and feasibility of proximal radioulnar derotational osteotomy and internal fixation for the treatment of congenital radioulnar synostosis. ( 30894220 )
2019
3
Is short-term hand therapy effective in a child with congenital radioulnar synostosis? A case report. ( 30956071 )
2019
4
A novel mutation in the MECOM gene causing radioulnar synostosis with amegakaryocytic thrombocytopenia (RUSAT-2) in an infant. ( 30536840 )
2019
5
Long-term results after simple rotational osteotomy of the radius shaft for congenital radioulnar synostosis. ( 30016690 )
2018
6
A MECOM variant in an African American child with radioulnar synostosis and thrombocytopenia. ( 29200407 )
2018
7
Three-dimensional analysis of deformities of the radius and ulna in congenital proximal radioulnar synostosis. ( 29402171 )
2018
8
Expanding the phenotypic and genetic spectrum of radioulnar synostosis associated hematological disease. ( 29519864 )
2018
9
The reverse Sauvé-Kapandji procedure for the treatment of (posttraumatic) proximal radioulnar synostosis. ( 29520493 )
2018
10
Posttraumatic Proximal Radioulnar Synostosis after Closed Reduction for a Radial Neck and Olecranon Fracture. ( 29805828 )
2018
11
Congenital radioulnar synostosis. ( 28828125 )
2017
12
Distal radioulnar synostosis after primary combined replacements for treatment of highly comminuted distal radius fracture in an elderly patient. ( 26598107 )
2017
13
The use of indomethacin in the prevention of postoperative radioulnar synostosis after distal biceps repair. ( 28104092 )
2017
14
The Dorsoulnar Artery Perforator Adipofascial Flap in the Treatment of Distal Radioulnar Synostosis. ( 28811948 )
2017
15
Circumferential Adipofascial Graft for Prevention of Recurrence of Posttraumatic Radioulnar Synostosis. ( 29107381 )
2017
16
Optimal management of post-traumatic radioulnar synostosis. ( 30774482 )
2017
17
Surgical Treatment of Posttraumatic Radioulnar Synostosis. ( 26977328 )
2016
18
Minimally invasive single-session double-level rotational osteotomy of the forearm bones to correct fixed pronation deformity in congenital proximal radioulnar synostosis. ( 27312798 )
2016
19
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
20
Case report: lateral capsular release for acute extension deficit in a child with congenital radioulnar synostosis. ( 25411938 )
2015
21
One-stage rotational osteotomy for congenital radioulnar synostosis. ( 25827142 )
2015
22
Safety and Efficacy of Derotational Osteotomy for Congenital Radioulnar Synostosis. ( 26322649 )
2015
23
Adipofascial radial artery perforator flap interposition to treat post-traumatic radioulnar synostosis in a patient with head injury. ( 25725026 )
2015
24
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. ( 24805776 )
2015
25
An atypical 0.73 MB microduplication of 22q11.21 and a novel SALL4 missense mutation associated with thumb agenesis and radioulnar synostosis. ( 25823593 )
2015
26
Malpositioned olecranon fracture tension-band wiring results in proximal radioulnar synostosis. ( 26514829 )
2015
27
Mutations in MECOM, Encoding Oncoprotein EVI1, Cause Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia. ( 26581901 )
2015
28
Surgical outcome of delayed presentation of congenital proximal radioulnar synostosis. ( 27163088 )
2015
29
Single osteotomy at the radial diaphysis for congenital radioulnar synostosis. ( 24996678 )
2014
30
Idiopathic distal radioulnar synostosis. ( 23789710 )
2014
31
Modified osteotomy (Kanaya's procedure) for congenital proximal radioulnar synostosis with posterior dislocation of radial head. ( 23821677 )
2014
32
Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation. ( 23863412 )
2014
33
Proximal radial diaphyseal segment resection for posttraumatic proximal radioulnar synostosis: a prospective study of 15 cases. ( 24768222 )
2014
34
Outcomes of anconeus interposition for proximal radioulnar synostosis. ( 25304042 )
2014
35
An iatrogenic proximal radioulnar synostosis: a case report and review of literature. ( 25471438 )
2014
36
[Treatment of proximal radioulnar synostosis using a posterior interosseous antegrade flow pedicled flap]. ( 24071038 )
2014
37
Gradual correction of congenital radioulnar synostosis by an osteotomy and Ilizarov external fixation. ( 23290465 )
2013
38
Treatment of blocked elbow flexion in congenital radioulnar synostosis with radial head excision: a case series. ( 23752153 )
2013
39
Limitation of elbow flexion in a patient with congenital radioulnar synostosis. ( 22388707 )
2012
40
Long-term follow-up of microvascular free tissue transfer for mobilization of congenital radioulnar synostosis. ( 22999592 )
2012
41
Preventing recurrence of radioulnar synostosis with pedicled adipofascial flaps. ( 21987272 )
2012
42
Management of posttraumatic radioulnar synostosis. ( 22751164 )
2012
43
Successful treatment of a radioulnar synostosis in a Mississippi kite (Ictinia mississippiensis). ( 22872982 )
2012
44
Adult post-traumatic radioulnar synostosis. ( 23000035 )
2012
45
Painful snapping elbow in patients with congenital radioulnar synostosis: report of two cases. ( 20684930 )
2010
46
Congenital radioulnar synostosis - case report. ( 22802806 )
2010
47
The developmental spectrum of proximal radioulnar synostosis. ( 19669136 )
2010
48
The mechanism of acute elbow flexion contracture in children with congenital proximal radioulnar synostosis. ( 20357595 )
2010
49
Reconstruction of a chronic Monteggia fracture with associated radioulnar synostosis. ( 20512175 )
2010
50
Craniosynostosis, hydrocephalus, Chiari I malformation and radioulnar synostosis: probably a new syndrome. ( 19022412 )
2009

Variations for Congenital Radioulnar Synostosis

Expression for Congenital Radioulnar Synostosis

Search GEO for disease gene expression data for Congenital Radioulnar Synostosis.

Pathways for Congenital Radioulnar Synostosis

GO Terms for Congenital Radioulnar Synostosis

Sources for Congenital Radioulnar Synostosis

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
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18 ExPASy
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50 NCI
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59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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