Duane-radial ray syndrome
Citation, DOI, disclosures and article data
Citation:
Radswiki T, Jones J, Sharma R, et al. Duane-radial ray syndrome. Reference article, Radiopaedia.org (Accessed on 27 Mar 2025) https://doi.org/10.53347/rID-15254
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rID:
15254
Article created:
5 Oct 2011,
The Radswiki ◉
Disclosures:
At the time the article was created The Radswiki had no recorded disclosures.
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Last revised:
Disclosures:
At the time the article was last revised Jeremy Jones had no financial relationships to ineligible companies to disclose.
View Jeremy Jones's current disclosures
Revisions:
6 times, by
5 contributors -
see full revision history and disclosures
Systems:
Sections:
Synonyms:
- Okihiro syndrome
- Duane-radial ray syndrome (DRRS)
Duane-radial ray syndrome, also known as the Okihiro syndrome, is a rare an autosomal dominant condition characterised by radial ray defects and Duane syndrome (a form of strabismus with partial horizontal gaze palsy).
Pathology
Duane-radial ray syndrome is caused by a pathogenic mutation to SALL4, which has an autosomal dominant pattern of inheritance 2,4.
References
- 1. Al-Baradie R, Yamada K, St Hilaire C et al. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. Am J Hum Genet. 2002;71(5):1195-9. doi:10.1086/343821 - Pubmed
- 2. Kohlhase J, Chitayat D, Kotzot D et al. SALL4 Mutations in Okihiro Syndrome (Duane-Radial Ray Syndrome), Acro-Renal-Ocular Syndrome, and Related Disorders. Hum Mutat. 2005;26(3):176-83. doi:10.1002/humu.20215 - Pubmed
- 3. Al-Baradie R, Yamada K, St Hilaire C et al. Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family. Am J Hum Genet. 2002;71(5):1195-9. doi:10.1086/343821 - Pubmed
- 4. Demer J, Clark R, Lim K, Engle E. Magnetic Resonance Imaging of Innervational and Extraocular Muscle Abnormalities in Duane-Radial Ray Syndrome. Invest Ophthalmol Vis Sci. 2007;48(12):5505-11. doi:10.1167/iovs.07-0772 - Pubmed
- 5. Kohlhase K. SALL4-Related Disorders. University of Washington, Seattle. 2022. https://www.ncbi.nlm.nih.gov/books/NBK1373/ - Pubmed
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