/choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

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

Rare Disease

MONDO:0035651

Also Known As

BCAHHKMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndromebranchial arch abnormalities, choanal atresia, athelia, hearing loss, and hypothyroidism 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.