• A rare autosomal recessive or dominant inherited disorder. The autosomal recessive form is caused by mutations in the ROR2 gene. There is no causative mutation identified for the autosomal dominant form. It is manifested with short limbs, abnormal facial features, underdeveloped genitalia, and wedge-shaped vertebrae.
  NCI
  U.S. National Cancer Institute, 2021
• Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia.
  OrphaNet
  INSERM, 2021
• Robinow syndrome is a rare disorder that affects the bones as well as other parts of the body. Two forms of Robinow syndrome have been described: autosomal recessive Robinow syndrome, and the milder autosomal dominant Robinow syndrome. They are distinguished based on their modes of inheritance, symptoms, and severity. Autosomal recessive...
  NIH Genetic and Rare Diseases
  National Center for Advancing Translational Sciences