/autosomal recessive Robinow syndrome

autosomal recessive Robinow syndrome

Rare Disease

MONDO:0009999

Also Known As

COVESDEM syndromeRRSRobinow syndrome, autosomal recessivecostovertebral segmentation defect-mesomelia syndromeCovesdem syndromeCovesdem syndrome, formerlyRobinow syndrome, autosomal recessive, with Brachy-syn-polydactylyRobinow syndrome, autosomal recessive, with aplasia/hypoplasia of phalanges and metacarpals/metatarsalscostovertebral segmentation defect with mesomeliacostovertebral segmentation defect with mesomelia, formerly

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.