Homozygous or compound heterozygous mutations in CHSY1 cause Temtamy preaxial brachydactyly syndrome, which is characterized by preaxial brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation (Table 2; Temtamy et al., 1998, 2012; Li et al., 2010; Tian et al., 2010; Sher and Naeem, 2014). The gene discussed is CHSY1; the disease is Syndrome with brachydactyly.