Macroglossia

Description

Macroglossia is an abnormal enlargement of the tongue. It is commonly observed with type 2 glycogen storage disease (232300), neurofibromatosis (162200), congenital hypothyroidism, and the Beckwith-Wiedemann syndrome (130650).

Inheritance

Macroglossia was reported as an isolated hereditary trait, apparently for the first time, by Reynoso et al. (1986). In 1 family, 15 persons in 6 sibships in 3 generations were affected in an autosomal dominant pedigree pattern. There were 2 instances of father-to-son transmission. In another family, the father and a son and daughter were affected. In each of the 2 families, the proband was a baby born with big tongue, leading to the diagnosis of congenital hypothyroidism or atypical Down syndrome. Reynoso et al. (1994) described 2 additional families with isolated autosomal dominant macroglossia. In 1 family, 2 sisters and 3 of their 4 children (2 sons and a daughter) were affected; in the other family, a father and daughter were affected.