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IVIC syndrome

Disease definition

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.

ORPHA:2307

Classification level: Disorder
  • Synonym(s):
    • Oculo-oto-radial syndrome
    • Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Antenatal, Neonatal
  • ICD-10: Q71.8
  • OMIM: 147750
  • UMLS: C1327918
  • MeSH: -
  • GARD: 269
  • MedDRA: -

Detailed information

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The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.