Autosomal recessive Robinow syndrome
Autosomal recessive Robinow syndrome
Definition
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.
Also known as costovertebral segmentation defect-mesomelia syndrome, COVESDEM syndrome, Robinow syndrome, autosomal recessive, RRS — per MONDO