Temtamy preaxial brachydactyly syndrome
Temtamy preaxial brachydactyly syndrome
Definition
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.
Also known as preaxial brachydactyly syndrome, TEMTAMY type, temtamy preaxial brachydactyly syndrome — per MONDO