As a general rule, genetic mutations in genes involved in early development (HESX1, LHX3, LHX4, SOX2, SOX3, GLI2, and OTX2) tend to be part of a syndrome that includes extra-pituitary defects and midline abnormalities such as cleft lip and/or palate, as well as CH (Table 1). The gene discussed is HESX1; the disease is cyclic hematopoiesis.