agnathia-otocephaly complex

Agnathia-holoprosencephaly-situs inversus syndrome is an extremely rare condition characterized by the absence of the mandible along with brain malformations and facial anomalies. These facial features include closely spaced or fused eyes (synophthalmia), malformed and low-set ears that may be fused in the midline (otocephaly), missing olfactory bulbs, a very small mouth (microstomia), and an underdeveloped or absent tongue (hypoglossia/aglossia). The condition also involves abnormalities in the normal left-right positioning of the organs (situs inversus partialis or totalis). This syndrome arises due to defects during early embryonic development when the brain and face are forming.

People with this condition often show a complete absence of the lower jaw, along with various facial abnormalities. Other common signs include malformed and low-set ears, fused or closely spaced eyes, a very small mouth, and issues with the tongue development. Additionally, there can be brain malformations and sometimes abnormal positioning of organs (situs inversus).

This condition is linked to genetic factors. Mutations in the gene PRRX1 have been noted in association with agnathia-otocephaly complex. However, detailed information on how genetic changes lead to the full spectrum of symptoms is limited.

Information about treatment is currently limited for this condition.

Agnathia-holoprosencephaly-situs inversus syndrome is described as a fatal condition. The significant developmental defects seen in this syndrome generally lead to a very poor outlook.

Information about research is currently limited for this condition.