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IVIC syndrome

Orpha number ORPHA2307
Synonym(s) Oculo-oto-radial syndrome
Prevalence <1 / 1 000 000
Inheritance
  • Autosomal dominant
Age of onset Neonatal/infancy
ICD-10
  • Q71.8
OMIM
UMLS
  • C1327918
MeSH -
MedDRA -
SNOMED CT -

Summary

IVIC syndrome is a very rare genetic malformation syndrome characterized by upper limb anomalies (radial ray defects, carpal bone fusion), extraocular motor disturbances, and congenital bilateral non-progressive mixed hearing loss.

Expert reviewer(s)

  • Dr Maria ACCADIA

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