Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, and Hypothyroidism Syndrome (BCAHH)

Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, and Hypothyroidism Syndrome, is also known as choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome. An important gene associated with Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, and Hypothyroidism Syndrome is KMT2D (Lysine Methyltransferase 2D). Affiliated tissues include thyroid and thymus, and related phenotypes are bilateral choanal atresia and thin upper lip vermilion