These genes are associated with recognizable syndromes such as (acampomelic) campomelic dysplasia (SOX9), cerebro‐costo‐mandibular syndrome (SNRPB), SATB2‐associated syndrome (Glass syndrome, SATB2), Catel‐Manzke syndrome (TGDS), TARP syndrome (RBM10), and Stickler syndrome (COL2A1, COL11A1). The gene discussed is COL2A1; the disease is Catel-Manzke syndrome.