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GTR Home > Conditions/Phenotypes > Agnathia-otocephaly complex

Agnathia-otocephaly complex

Synonyms
Agnathia-holoprosencephaly; DYSGNATHIA COMPLEX AGNATHIA-HOLOPROSENCEPHALY; Dysgnathia complex; OTOCEPHALY
Modes of inheritance
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

Agnathia-otocephaly (AGOTC) is a rare condition characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary, and cardiovascular anomalies, and situs inversus have been reported. The disorder is almost always lethal (review by Faye-Petersen et al., 2006). [from OMIM]

Available tests

9 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (9 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AGOTC, PHOX1, PMX1, PRX-1, PRX1, PRRX1
    Summary: paired related homeobox 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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