Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

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, KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome, branchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome itself.