Oculoauriculofrontonasal syndrome
Synonyms: OAFNS
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.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Oculoauriculofrontonasal syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.