Online Mendelian Inheritance in Man (OMIM)(22) describes variants in the KMT2D gene in association with two distinct phenotypes, KS-1 (147920) and (620186) Branchial arch abnormalities, Choanal atresia, Athelia, Hearing loss, and Hypothyroidism (BCAHH) syndrome. The gene discussed is KMT2D; the disease is choanal atresia.