Robinows syndrom, autosomal recessiv type
Engelsk navn: Autosomal recessive Robinow syndrome
Engelske synonym: COVESDEM syndrome,Costovertebral segmentation defect-mesomelia syndrome,RRS
Autosomal recessive Robinow syndrome (RRS) is the less common type of Robinow syndrome (RS, see this term) characterized by short-limb dwarfism, costovertebral segmentation defects and abnormalities of the head, face and external genitalia.
Klassifiseringsnivå: Subtype of disorder