Robinow syndrome

Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.

Cleft lip

A gap in the lip or lips.


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PMID (PMCID)
18831060
 MIXED_SAMPLE Child
Robinow syndrome: phenotypic variability in a family with a novel intragenic ROR2 mutation.
Brunetti-Pierri N, Del Gaudio D, Peters H, Justino H, Ott CE, Mundlos S, Bacino CA.
Am J Med Genet A. 2008;146A(21):2804-9.
The affected individuals exhibited variability with respect to the cleft lip, cleft palate, and cardiac findings and for the presence in one of the patients of syringomyelia, which has not been previously reported in Robinow syndrome.