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). Here, SOX9 is linked to cerebrocostomandibular syndrome.