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Okihiro syndrome

ORPHA93293
Synonym(s) Duane-radial ray syndrome
Prevalence -
Inheritance Autosomal dominant
Age of onset -
ICD-10
  • Q87.8
OMIM
UMLS
  • C1623209
MeSH -
MedDRA -

Summary

Okihiro syndrome is a syndrome of multiple congenital anomalies and is characterized by ocular manifestations (uni- or bilateral Duane anomaly (95% of cases), congenital optic nerve hypoplasia or optic disc coloboma), bilateral deafness and radial ray malformation that can include thenar hypoplasia and/or hypoplasia or aplasia of the thumbs; hypoplasia or aplasia of the radii; shortening and radial deviation of the forearms; triphalangeal thumbs; and duplication of the thumb (preaxial polydactyly).The phenotype overlaps with other SALL4>/i> related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.


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Detailed information

Clinical genetics review
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