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
