Auriculocondylar syndrome

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Synonyms: Question mark ear syndrome

A rare genetic dysostosis with predominant craniofacial involvement characterized by bilateral external ear malformations mandibular condyle hypoplasia microstomia micrognathia microglossia and facial asymmetry. Additional manifestations include hypotonia ptosis cleft palate full cheeks developmental delay hearing impairment and respiratory distress. Significant intra- and interfamilial phenotypic variation has been reported.

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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Auriculocondylar syndrome?

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