Brachydactyly, Type A1, C (BDA1C)

Brachydactyly, Type A1, C, also known as brachydactyly type a1c, is related to klippel-feil syndrome and symphalangism, proximal, 1b. An important gene associated with Brachydactyly, Type A1, C is GDF5 (Growth Differentiation Factor 5), and among its related pathways/superpathways are Mesenchymal Stem Cells and Lineage-specific Markers and Signaling by BMP. Affiliated tissues include bone, and related phenotypes are brachydactyly and short stature