An autosomal recessive disease that is characterized by brachydactyly, hyperphalangism of digits, facial dysmorphism, dental anomalies, sensorineural hearing loss, delayed motor and mental development, and growth retardation and has material basis in homozygous mutation in the CHSY1 gene. The disease is MONDO_0011533 (temtamy preaxial brachydactyly syndrome). Also known as: preaxial brachydactyly syndrome, TEMTAMY type.