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Disease: Robinow Sorauf syndrome

  • A case of Robinow-Sorauf syndrome (Craniosynostosis-Bifid Hallux Syndrome): The allelic variant of the Saethre-Chotzen syndrome
  • A family study of craniosynostosis, with probable recognition of a distinct syndrome
  • A novel mutation in the TWIST gene, implicated in Saethre-Chotzen syndrome, is found in the original case of Robinow-Sorauf syndrome
  • Acrocephalopolysyndactyly, type Noack, in a large kindred
  • Bilateral conductive hearing impairment with hyperostosis of the temporal bone: a new finding in Robinow syndrome
  • Familial Saethre-Chotzen syndrome with or without polydactyly of the toe
  • Identification of a frameshift mutation in the gene TWIST in a family affected with Robinow-Sorauf syndrome
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CheckOrphan is a non-profit organization located in Basel, Switzerland and Santa Cruz, California that is dedicated to rare, orphan and neglected diseases. CheckOrphan offers users an interactive and dynamic platform for all these diseases. This strategy allows visitors to be updated daily on all the latest news and interact with people internationally. This is essential, because due to the nature of these diseases, there is not a large concentration of individuals within any given proximity.
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