A rare dysostosis syndrome characterized by vertical median craniofacial clefting of fronto-naso-maxillary structures associated with auriculo-mandibular malformations manifesting with highly variable craniofacial features which include hypertelorism eyelid colobomas orbital dystopia epibulbar dermoids nasal anomalies (e.g. wide nasal bridge bifid nose widely separated slit-like nares nasal bone dysplasia) auricular and middle ear dysplasia (microtia aural stenosis pre-auricular skin tags/pits) cleft lip/palate mandibular/maxillary hypoplasia and facial asymmetry. Intracranial abnormalities and extra-craniofacial features are frequently associated.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
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