In addition to CED, several other genetic disorders with skeletal manifestations including Marfan syndrome (MFS), Loeys–Dietz syndrome (LDS), Shprintzen–Goldberg syndrome (SGS), and neurofibromatosis type 1 (NF1) also involve aberrant TGF-β signaling. The gene discussed is TGFB1; the disease is neurofibromatosis type 1.