Otocephaly, also known as agnathia–otocephaly complex, is a very rare and lethal cephalic disorder characterized by the absence of the mandible (agnathia), with the ears fused together just below the chin (synotia). It is caused by a disruption to the development of the first branchial arch. It occurs in every 1 in 70,000 embryos.

Otocephaly is a rare malformation characterized by the association of agnathia (agenesis of mandible) or mandibular hypoplasia, melotia (anteromedial malposition of ears), microstomia (small mouth), aglossia or microglossia (absent or rudimentary tongue).

Agnathia-otocephaly complex is caused by genetic mutations, also known as pathogenic variants. Genetic mutations can be hereditary, when parents pass them down to their children, or they may occur randomly when cells are dividing.

Otocephaly is a rare and lethal malformation complex involving the first arch and consists of microstomia, aglossia, agnathia and synotia. The defect is in the ventral portion of the arch. It was first described by Kerckring in 1717.

The most severe form of first and second branchial arch malformation is found in otocephaly. This complex early defect in craniofacial development is easily diagnosed on physical examination.

Otocephaly is a rare congenital abnormality characterized by the absence or underdevelopment of the mandible, misplacement of the ears towards the front, a small mouth, and absence or underdevelopment of the tongue.

Otocephaly or agnathia-microstomia-synotia syndrome (SAMS) is a rare congenital malformation characterized by agenesis of mandible (agnathia), disposition or fusion of the auricle (synotia), microstomia, and complete or partial lack of language (aglossia), which often ends up lethal, due to respiratory problems. 1 Syndrome is the most severe ...

2013年7月9日 · Otocephaly-dysgnathia complex is characterized by mandibular hypo- or aplasia, ear abnormalities, microstomia, and microglossia. Mutations in the orthodenticle homeobox 2 (OTX2) and paired related homeobox 1 (PRRX1) genes …

2012年12月11日 · Otocephaly, Agnathia with holoprosencephaly. Definition: Otocephaly can be an isolated malformation or associated with others anomalies such as holoprosencephaly, neural tube defects, cardiopathy, renal ectopia, vertebral and ribs abnormalities.

Otocephaly, characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia, is an extremely rare anomalad, identified in less than 1 in 70,000 births.