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Autosomal recessive Robinow syndrome

rare

Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.

Identifiers
MONDO:0009999 OMIM:268310Orphanet:1507
Causal genes
ROR2
Part of
Robinow syndromeAutosomal recessive disease
Also known as
costovertebral segmentation defect with mesomelia · costovertebral segmentation defect-mesomelia syndrome · COVESDEM syndrome · Robinow syndrome, autosomal recessive · RRS

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