Robinow syndrome (Q87099): Difference between revisions

Robinow syndrome is a rare genetic syndrome characterised by limb shortening and abnormalities of the head, face and external genitalia. Two forms of the syndrome with different patterns of inheritance and variable frequency of clinical signs have been described: a milder autosomal dominant form (autosomal dominant Robinow syndrome) and a more severe autosomal recessive form (autosomal recessive Robinow syndrome).