Agnathia-otocephaly is a rare malformation that can often be diagnosed in utero using ultrasonography. It is typically lethal soon after birth.

Synonym: agnathia-synotia-microstomia


Mechanism: malformation of the first pharyngeal arch between the fourth and eighth week of gestation, possibly related to mutations in PRRX1 (1q24.2)


Key facial features:

(1) agnathia (absence of the mandible) or severe mandibular hypoplasia

(2) microstomia

(3) aplasia or severe hypoplasia of the tongue (aglossia or hypoglossia)

(4) melotia (auricular malposition to the mid-face) and/or synotia (auricular fusion)


Other malformations may include:

(1) holoprosencephaly

(2) situs inversus

(3) cardiovascular malformations

(4) malformations of the genitourinary tract

(5) skeletal malformations

To read more or access our algorithms and calculators, please log in or register.