RSS
MCID: RBN013
MIFTS: 22

Robinow-Sorauf Syndrome (RSS)

Categories: Genetic diseases

Aliases & Classifications for Robinow-Sorauf Syndrome

MalaCards integrated aliases for Robinow-Sorauf Syndrome:

Name: Robinow-Sorauf Syndrome 56 73 29 13 6
Craniosynostosis-Bifid Hallux Syndrome 56 73
Acrocephalosyndactyly, Robinow-Sorauf Type 56
Acrocephalosyndactyly Robinow-Sorauf Type 73
Syndrome, Robinow-Sorauf 39
Robinow Sorauf Syndrome 71
Rss 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant
? same as saethre-chotzen syndrome


HPO:

31
robinow-sorauf syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 180750
MeSH 43 D000168
MedGen 41 C1867146
UMLS 71 C1867146

Summaries for Robinow-Sorauf Syndrome

UniProtKB/Swiss-Prot : 73 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 craniosynostosis-bifid hallux syndrome, is related to silver-russell syndrome 1 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 hypertelorism and strabismus

More information 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:

(show all 16)
# Related Disease Score Top Affiliating Genes
1 silver-russell syndrome 1 12.2
2 rigid spine muscular dystrophy 1 12.1
3 saethre-chotzen syndrome 12.0
4 craniosynostosis 10.5
5 thrombophilia 10.3
6 ataxia and polyneuropathy, adult-onset 10.1
7 endometrial cancer 10.1
8 myocardial infarction 10.1
9 myelodysplastic syndrome 10.1
10 dengue virus 10.1
11 scoliosis 10.1
12 myelomeningocele 10.1
13 spinal muscular atrophy 10.1
14 acute cystitis 10.1
15 severe combined immunodeficiency 10.1
16 muscular atrophy 10.1

Graphical network of the top 20 diseases related to Robinow-Sorauf Syndrome:



Diseases related to Robinow-Sorauf Syndrome

Symptoms & Phenotypes for Robinow-Sorauf Syndrome

Human phenotypes related to Robinow-Sorauf Syndrome:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 strabismus 31 HP:0000486
3 flat face 31 HP:0012368
4 malar flattening 31 HP:0000272
5 plagiocephaly 31 HP:0001357
6 long nose 31 HP:0003189
7 broad hallux 31 HP:0010055
8 narrow nose 31 HP:0000460
9 shallow orbits 31 HP:0000586
10 duplication of phalanx of hallux 31 HP:0010066

Symptoms via clinical synopsis from OMIM:

56
Eyes:
hypertelorism
strabismus
shallow orbits
plagiocephaly (asymmetry of orbits)

Limbs:
broad great toes
duplicated great toe distal phalanx

Facies:
flat facies
thin, long, pointed nose

Clinical features from OMIM:

180750

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 PMID Year
1
A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome. 6 56 61
12791045 2003
2
Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. 56 6 61
10465122 1999
3
Saethre-Chotzen syndrome. 56
8064818 1994
4
A family study of craniosynostosis, with probable recognition of a distinct syndrome. 56
7120316 1982
5
An unusual form of familial acrocephalosyndactyly. 56
7120317 1982
6
Acrocephalopolysyndactyly, type Noack, in a large kindred. 6
1240778 1975
7
A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome. 61
25565733 2014
8
Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. 61
7793794 1995

Variations for Robinow-Sorauf Syndrome

ClinVar genetic disease variations for Robinow-Sorauf Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TWIST1 NM_000474.4(TWIST1):c.460dup (p.Arg154fs)duplication Pathogenic 7981 7:19156484-19156485 7:19116861-19116862
2 TWIST1 NM_000474.4(TWIST1):c.211C>T (p.Gln71Ter)SNV Pathogenic 7984 rs104894065 7:19156734-19156734 7:19117111-19117111
3 TWIST1 NM_000474.4(TWIST1):c.94G>A (p.Gly32Ser)SNV Conflicting interpretations of pathogenicity 235255 rs878852992 7:19156851-19156851 7:19117228-19117228

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 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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