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Okihiro syndrome

Synonym(s) Duane-radial ray syndrome
Prevalence -
Inheritance Autosomal dominant
Age of onset -
  • Q87.8
  • C1623209
MeSH -
MedDRA -


Okihiro syndrome is a malformation syndrome that is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or coloboma of optic papilla (see this term), bilateral deafness, radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radius; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly of fingers; see this term). In some cases, renal anomalies may also be observed. Okihiro syndrome is transmitted in an autosomal dominant manner.

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Detailed information

Clinical genetics review
  • EN (2015)
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