Agnathia-holoprosencephaly-situs inversus syndrome

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An extremely rare and fatal association syndrome characterized by absence of the mandible cerebral malformations with facial anomalies related to a defect in cleavage in the embryonic brain (e.g. synophthalmia malformed and low-set ears fused in midline (otocephaly) agenesis of the olfactory bulbs microstomia hypoglossia/aglossia) and situs inversus partialis or totalis.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version May 2024

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Agnathia-holoprosencephaly-situs inversus syndrome?

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