ROR2

ROR2 encodes a receptor tyrosine kinase required for cartilage and growth plate development that acts as a receptor for WNT5A and phosphorylates proteins involved in bone formation. Mutations cause brachydactyly type B1 (autosomal dominant) characterized by underdeveloped distal finger bones and nails, and autosomal recessive Robinow syndrome featuring skeletal dysplasia with limb shortening, spinal defects, brachydactyly, and distinctive facial features. The gene shows low constraint to loss-of-function variation (LOEUF 0.558), consistent with its dual inheritance patterns depending on the specific mutation and resulting phenotype.