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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 -
MeSH -
MedDRA -
SNOMED CT -

Summary

The IVIC syndrome is a very rare malformation syndrome, the most constant feature being a radial ray defect of variable degree, with thumb hypoplasia or aplasia, triphalangism or distal placement. Prevalence is unknown since only four families with this syndrome have been reported. Carpal bones may be hypoplastic and radius and ulna proximally fused. Most affected individuals also present strabismus and hearing loss. Mild thrombocytopenia, leukocytosis and imperforate anus may occur in some patients. The disease is caused by an autosomal dominant gene with complete penetrance, variable expressivity and wide pleiotropy. Diagnosis is based on clinical examination. There is no specific treatment for the IVIC syndrome. A surgical correction is required for imperforate anus. Deafness can be treated with a cochlear implant.

Expert reviewer(s)

  • Dr Maria ACCADIA
  • Pr Giovanni NERI
Last update: November 2004

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