RSS
MCID: RBN013
MIFTS: 22
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Robinow-Sorauf Syndrome (RSS)
Categories:
Genetic diseases
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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
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Diseases related to Robinow-Sorauf Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:(show all 14)
Graphical network of the top 20 diseases related to Robinow-Sorauf Syndrome:![]() |
Human phenotypes related to Robinow-Sorauf Syndrome:31 (show all 10)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:180750 (Updated 05-Mar-2021) |
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Articles related to Robinow-Sorauf Syndrome:
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ClinVar genetic disease variations for Robinow-Sorauf Syndrome:6
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Search
GEO
for disease gene expression data for Robinow-Sorauf Syndrome.
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