Aliases & Classifications for Robinow-Sorauf Syndrome

MalaCards integrated aliases for Robinow-Sorauf Syndrome:

Name: Robinow-Sorauf Syndrome 57 75 13
Robinow Sorauf Syndrome 29 6 73
Craniosynostosis-Bifid Hallux Syndrome 57 75
Acrocephalosyndactyly, Robinow-Sorauf Type 57
Acrocephalosyndactyly Robinow-Sorauf Type 75
Syndrome, Robinow-Sorauf 40
Rss 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant
? same as saethre-chotzen syndrome


HPO:

32
robinow-sorauf syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Robinow-Sorauf Syndrome

UniProtKB/Swiss-Prot : 75 Robinow-Sorauf syndrome: An autosomal dominant syndrome characterized by craniosynostosis, asymmetry of orbits, flat face, hypertelorism, a thin, long, and pointed nose, shallow orbits, strabismus, and broad great toes with a duplication of the distal phalanx. RSS is clinically similar to Saethre-Chotzen syndrome, with the most characteristic additional feature in Robinow-Sorauf syndrome being a bifid or partially duplicated hallux.

MalaCards based summary : Robinow-Sorauf Syndrome, also known as robinow sorauf syndrome, is related to silver-russell syndrome and rigid spine muscular dystrophy 1. An important gene associated with Robinow-Sorauf Syndrome is TWIST1 (Twist Family BHLH Transcription Factor 1). Related phenotypes are malar flattening and hypertelorism

Description from OMIM: 180750

Related Diseases for Robinow-Sorauf Syndrome

Diseases related to Robinow-Sorauf Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 12.2
2 rigid spine muscular dystrophy 1 11.7
3 saethre-chotzen syndrome 10.4
4 craniosynostosis 10.2

Symptoms & Phenotypes for Robinow-Sorauf Syndrome

Symptoms via clinical synopsis from OMIM:

57
Facies:
flat facies
thin, long, pointed nose

Limbs:
broad great toes
duplicated great toe distal phalanx

Eyes:
shallow orbits
hypertelorism
plagiocephaly (asymmetry of orbits)
strabismus


Clinical features from OMIM:

180750

Human phenotypes related to Robinow-Sorauf Syndrome:

32 (show all 10)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 strabismus 32 HP:0000486
4 flat face 32 HP:0012368
5 plagiocephaly 32 HP:0001357
6 long nose 32 HP:0003189
7 narrow nose 32 HP:0000460
8 broad hallux 32 HP:0010055
9 shallow orbits 32 HP:0000586
10 duplication of phalanx of hallux 32 HP:0010066

Drugs & Therapeutics for Robinow-Sorauf Syndrome

Search Clinical Trials , NIH Clinical Center for Robinow-Sorauf Syndrome

Genetic Tests for Robinow-Sorauf Syndrome

Genetic tests related to Robinow-Sorauf Syndrome:

# Genetic test Affiliating Genes
1 Robinow Sorauf Syndrome 29 TWIST1

Anatomical Context for Robinow-Sorauf Syndrome

Publications for Robinow-Sorauf Syndrome

Articles related to Robinow-Sorauf Syndrome:

# Title Authors Year
1
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. ( 25565733 )
2014
2
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. ( 12791045 )
2003
3
Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. ( 10465122 )
1999

Variations for Robinow-Sorauf Syndrome

ClinVar genetic disease variations for Robinow-Sorauf Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TWIST1 TWIST1, 1-BP INS, 460A insertion Pathogenic
2 TWIST1 NM_000474.3(TWIST1): c.211C> T (p.Gln71Ter) single nucleotide variant Pathogenic rs104894065 GRCh37 Chromosome 7, 19156734: 19156734
3 TWIST1 NM_000474.3(TWIST1): c.211C> T (p.Gln71Ter) single nucleotide variant Pathogenic rs104894065 GRCh38 Chromosome 7, 19117111: 19117111

Expression for Robinow-Sorauf Syndrome

Search GEO for disease gene expression data for Robinow-Sorauf Syndrome.

Pathways for Robinow-Sorauf Syndrome

GO Terms for Robinow-Sorauf Syndrome

Sources for Robinow-Sorauf Syndrome

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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