Brachydactyly Brachydactyly. Mutations in CDMP1 cause autosomal dominant brachydactyly type C Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1 Recessive Robinow syndrome, allelic to dominant brachydactyly type B, is caused by mutation of ROR2 Distinct Mutations in the Receptor Tyrosine Kinase Gene ROR2 Cause Brachydactyly Type B Severe autosomal dominant hypertension and brachydactyly in a unique Turkish kindred maps to human chromosome 12 Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B. Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and b... Activating and deactivating mutations in the receptor interaction site of GDF5 cause symphalangism or brachydactyly type A2.
