Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Definition
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome is an autosomal dominant disorder characterized by choanal atresia, athelia or hypoplastic nipples, branchial sinus abnormalities, neck pits, lacrimal duct anomalies, hearing loss, external ear malformations, and thyroid abnormalities.
Also known as BCAHH, branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome, KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome — per MONDO