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Okihiro syndrome

^ http://www.orpha.net/ORDO/Orphanet_93293


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 related disorders including acro-renal-ocular syndrome and Holt-Oram syndrome (see these terms). Transmission is autosomal dominant.

Synonyms: Duane-radial ray syndrome

Term info

database cross reference
  • ICD-10:Q87.8 (Attributed)
  • ICD-10:Q87.8 (NTBT (narrower term maps to a broader term))
  • UMLS:C1623209 (E (exact mapping (the terms and the concepts are equivalent)))
  • OMIM:607323 (E (exact mapping (the terms and the concepts are equivalent)))
hasDbXref

UMLS:C1623209, OMIM:607323, ICD-10:Q87.8

notation

ORPHA:93293