Orphanet: Oculoauriculofrontonasal syndrome

(*) Required fields.

You are (*)

If you have selected the “Other” category, please specify which type of user you are: *

Email address: *

Topic of your comment *

Epidemiology data

Clinical signs

Nomenclature and/or coding

Your message *

(3000 characters remaining)

Attention

Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Check this box if you wish to receive a copy of your message

Please reproduce the text below: *

Oculoauriculofrontonasal syndrome

Disease definition

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.

ORPHA:398156

Classification level: Disorder

Synonym(s):
- OAFNS
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Neonatal
ICD-10: Q87.0
OMIM: 601452
UMLS: C1832352
MeSH: C537865
GARD: 4031
MedDRA: -

The portal for rare diseases and orphan drugs

Search for a rare disease

Other search option(s)

Topic of your comment *

Your message *

Attention

Oculoauriculofrontonasal syndrome

ORPHA:398156

A summary on this disease is available in Español (2018) Français (2018) Italiano (2018) Nederlands (2018) Polski ()

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services