Robinow-Sorauf syndrome

Last revised by Dr Rohit Sharma on 25 Sep 2019

Robinow-Sorauf syndrome (RSS) is a rare, autosomal dominant type of acrocephalosyndactyly syndrome (ACS).

Rather than being a distinct ACS, it has now generally accepted that RSS is, in fact, part of the Saethre-Chotzen syndrome phenotypic spectrum 1. This is due to similar phenotype and both being attributed to mutations in the TWIST1 gene 1

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