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Oculo-oto-facial dysplasia

Orpha number ORPHA77302
Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
Infancy
ICD-10
  • Q87.0
ICD-O -
OMIM
UMLS -
MeSH -
MedDRA -

Summary

Oculo-oto-facial dysplasia is a malformation syndrome characterised by malar and mandibular hypoplasia, lower eyelid coloboma, choanal atresia, orofacial clefting, and external ear malformation with preauricular tags. Intellect is normal and profound mixed hearing loss has been observed in affected adults. It has been reported in four related individuals Autosomal recessive transmission is probable.


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