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Classification and external resources
Specialty medical genetics
ICD-10 Q18.2
OMIM 202650

Otocephaly (from the Greek words οτο, meaning “ear”, and κεφάλη, meaning "head") is a type of head disorder (cephalic disorder).

This is a lethal condition in which the primary feature is the total or virtual absence of the lower jaw (a developmental anomaly called agnathia).[1] The “oto” in the name refers to the relationship of the ears to the face in this disorder.

The condition is considered lethal because of a poorly functioning airway.

In otocephaly, agnathia may occur alone or together with holoprosencephaly.


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