MCID: RDL026
MIFTS: 18

Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

MalaCards integrated aliases for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome:

Name: Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome 52 6
Brachydactyly, Type A1, with Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, and Mental Retardation 71
Tsukahara Syndrome of Radioulnar Synostosis, Short Stature, Microcephaly, Scoliosis, and Mental Retardation 52
Giuffré-Tsukahara Syndrome 52
Tsukahara Syndrome 52

Classifications:



Summaries for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3268 Definition Radioulnar synostosis-microcephaly -scoliosis syndrome , also known as Guiffre-Tsukahara syndrome, is an extremely rare syndrome characterized by the association of radioulnar synostosis with microcephaly, scoliosis, short stature and intellectual deficit. Visit the Orphanet disease page for more resources.

MalaCards based summary : Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome, also known as brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation, is related to radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation and brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation. An important gene associated with Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome is ZNF407 (Zinc Finger Protein 407). Related phenotypes are intellectual disability and global developmental delay

Related Diseases for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

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

# Related Disease Score Top Affiliating Genes
1 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 11.8
2 brachydactyly, type a1, with short stature, scoliosis, microcephaly, ptosis, hearing loss, and mental retardation 11.6
3 microcephaly 10.5
4 synostosis 10.4
5 scoliosis 10.3
6 brachydactyly, type a1 10.1
7 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
8 brachydactyly 10.1
9 ptosis 10.1
10 radioulnar synostosis 10.1

Graphical network of the top 20 diseases related to Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome:



Diseases related to Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Symptoms & Phenotypes for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Human phenotypes related to Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 hallmark (90%) HP:0001249
2 global developmental delay 31 hallmark (90%) HP:0001263
3 delayed skeletal maturation 31 hallmark (90%) HP:0002750
4 scoliosis 31 hallmark (90%) HP:0002650
5 abnormality of the dentition 31 hallmark (90%) HP:0000164
6 pectus carinatum 31 hallmark (90%) HP:0000768
7 microcephaly 31 hallmark (90%) HP:0000252
8 thick eyebrow 31 hallmark (90%) HP:0000574
9 short stature 31 hallmark (90%) HP:0004322
10 abnormal dermatoglyphics 31 hallmark (90%) HP:0007477
11 epicanthus 31 hallmark (90%) HP:0000286
12 clinodactyly of the 5th finger 31 hallmark (90%) HP:0004209
13 abnormality of the ribs 31 hallmark (90%) HP:0000772
14 radioulnar synostosis 31 hallmark (90%) HP:0002974
15 abnormality of the philtrum 31 hallmark (90%) HP:0000288
16 finger syndactyly 31 hallmark (90%) HP:0006101
17 abnormality of the elbow 31 hallmark (90%) HP:0009811
18 premature birth 31 hallmark (90%) HP:0001622
19 synophrys 31 hallmark (90%) HP:0000664

Drugs & Therapeutics for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Search Clinical Trials , NIH Clinical Center for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Genetic Tests for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Anatomical Context for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Publications for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Articles related to Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome:

# Title Authors PMID Year
1
Tsukahara syndrome of radioulnar synostosis, short stature, microcephaly, scoliosis, and mental retardation. 61
9880222 1998

Variations for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

ClinVar genetic disease variations for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ZNF407 NM_017757.2(ZNF407):c.4847G>T (p.Gly1616Val)SNV Uncertain significance 684726 18:72493428-72493428 18:74781472-74781472

Expression for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Search GEO for disease gene expression data for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome.

Pathways for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

GO Terms for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

Sources for Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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