label: temtamy preaxial brachydactyly syndrome
label_lc: temtamy preaxial brachydactyly syndrome
description: 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.