Robinow-Sorauf Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 180750

MedGen ⁴² C1867146

MeSH ⁴⁴ D000168

SNOMED-CT via HPO ⁶⁹ 263681008 194021007 22006008 more

UMLS ⁷³ C1867146

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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

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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
1	silver-russell syndrome	12.2
2	rigid spine muscular dystrophy 1	11.7
3	saethre-chotzen syndrome	10.4
4	craniosynostosis	10.2

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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 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

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Drugs & Therapeutics for Robinow-Sorauf Syndrome

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

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Genetic Tests for Robinow-Sorauf Syndrome

Genetic tests related to Robinow-Sorauf Syndrome:

#	Genetic test	Affiliating Genes
1	Robinow Sorauf Syndrome ²⁹	TWIST1

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Anatomical Context for Robinow-Sorauf Syndrome

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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 )	Thakur A.R....Naikmasur V.G.	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 )	Cai J....Jabs E.W.	2003
3	Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome. ( 10465122 )	Kunz J....Fritz B.	1999

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Genes for Robinow-Sorauf Syndrome

Genes related to Robinow-Sorauf Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	TWIST1	Twist Family BHLH Transcription Factor 1	Protein Coding	1037.89	Molecular basis known ⁵⁷ Pathogenic ⁶ Genetic Tests ²⁹ GeneCards inferred via : Disorders Publications Variants (show sections)	10465122 12791045 1240778

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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

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Expression for Robinow-Sorauf Syndrome

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

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Pathways for Robinow-Sorauf Syndrome

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GO Terms for Robinow-Sorauf Syndrome

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