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Otocephaly MeSH Supplementary Concept Data 2025


MeSH Supplementary
Otocephaly
Unique ID
C562503
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C562503
Entry Term(s)
Agnathia-otocephaly complex
Registry Numbers
0
Heading Mapped to
*Craniofacial Abnormalities
Frequency
27
Note
A rare congenital condition characterized by mandibular hypoplasia or agnathia (absence of mandible), mispositioning of the ear auricles (melotia) and/or abnormal fusion of the earlobes (synotia), and MICROSTOMIA with oroglossal hypoplasia or aglossia. It occurs frequently with HOLOPROSENCEPHALY; skeletal, genitourinary, and cardiovascular anomalies, and SITUS INVERSUS may also be present. The disorder is almost always lethal and is caused by mutations in the paired related homeobox 1 gene (PRRX1) OMIM: 202650
Date of Entry
2012/11/05
Revision Date
2016/09/29
Otocephaly Preferred
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