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URL of this page: https://medlineplus.gov/genetics/condition/duane-radial-ray-syndrome/

Duane-radial ray syndrome

Description

Duane-radial ray syndrome, also called Okihiro syndrome, is characterized by abnormalities of the bones in the arms and hands that may be associated with problems in the eyes, ears, and other organs. The particular features of the condition can vary greatly among affected individuals.

People with Duane-radial ray syndrome often have underdeveloped or absent thumbs, an extra thumb, or a long thumb that looks like a finger. Partial or complete absence of bones in the forearm is also common. Together, these hand and arm abnormalities are known as radial ray malformations.

People with Duane-radial ray syndrome may also have a disorder called Duane anomaly (also known as Duane retraction syndrome), which can affect one or both eyes. This condition occurs when certain nerves that control eye movement do not develop properly. Duane anomaly may limit outward eye movement (toward the ear) or inward eye movement (toward the nose). In people with this condition, the eyeball may pull back (retract) into its socket and the eyelid opening may narrow as the eye moves to the side. Because the eyes often do not look in the same direction (strabismus), affected individuals may need to turn their head to track objects with both eyes.

A variety of other signs and symptoms may be seen in people with Duane-radial ray syndrome. These can include hearing loss, unusually shaped ears, additional eye abnormalities, an inward- and upward-turning foot (clubfoot), fused spinal bones, a spine that curves to the side (scoliosis), and abnormalities of the anus and rectum (anorectal abnormalities). Affected individuals may also have heart and kidney defects.

Duane-radial ray syndrome is often considered to be part of a disease spectrum with other conditions that share similar features. Because these conditions are all caused by changes in the same gene, they are sometimes called SALL4-related disorders.

Frequency

Duane-radial ray syndrome is a rare condition, although its exact prevalence is unknown. 

Causes

Genetic changes that cause disease are called pathogenic variants. Pathogenic variants in the SALL4 gene cause Duane-radial ray syndrome. The SALL4 gene plays a role in the proper formation of tissues and organs before birth. This gene provides instructions for making a protein that acts as a transcription factor, which means it binds to specific regions of DNA and helps control the activity of particular genes. Although the exact function of the SALL4 protein is unclear, it appears to be important for the normal development of the eyes, heart, and limbs.

Most of the pathogenic variants in the SALL4 gene that cause Duane-radial ray syndrome are considered “loss-of-function variants” because they reduce the activity of the SALL4 protein or decrease the amount of protein that is produced by cells. While a reduction in the amount of SALL4 protein seems to affect development before birth, it is unclear why the eyes, arms, and hands are particularly affected in people with Duane-radial ray syndrome.

Learn more about the gene associated with Duane-radial ray syndrome

Inheritance

Duane-radial ray syndrome is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In many cases, an affected person inherits the pathogenic variant from a parent. Other cases result from a new (de novo) variant in the gene that occurs during the formation of reproductive cells (eggs or sperm) in an affected individual's parent or during early embryonic development. These individuals typically have no history of the disorder in their family.

Other Names for This Condition

  • DRRS
  • Okihiro syndrome
  • SALL4-related disorder

Additional Information & Resources

Genetic Testing Information

Genetic and Rare Diseases Information Center

Patient Support and Advocacy Resources

Clinical Trials

Catalog of Genes and Diseases from OMIM

Scientific Articles on PubMed

References

  • Ajam-Hosseini M, Parvini F, Angaji A. A novel de novo nonsense mutation in SALL4 causing duane radial ray syndrome: a case report and expanding the phenotypic spectrum. BMC Med Genomics. 2023 Feb 24;16(1):33. doi: 10.1186/s12920-023-01467-1. Citation on PubMed
  • Al-Baradie R, Yamada K, St Hilaire C, Chan WM, Andrews C, McIntosh N, Nakano M, Martonyi EJ, Raymond WR, Okumura S, Okihiro MM, Engle EC. 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 Nov;71(5):1195-9. doi: 10.1086/343821. Epub 2002 Oct 22. Citation on PubMed or Free article on PubMed Central
  • Alahmadi MH, Kaur K. Duane-Radial Ray Syndrome (Okihiro Syndrome). 2026 Jun 20. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan-. Available from http://www.ncbi.nlm.nih.gov/books/NBK623728/ Citation on PubMed
  • Borozdin W, Boehm D, Leipoldt M, Wilhelm C, Reardon W, Clayton-Smith J, Becker K, Muhlendyck H, Winter R, Giray O, Silan F, Kohlhase J. SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism. J Med Genet. 2004 Sep;41(9):e113. doi: 10.1136/jmg.2004.019901. No abstract available. Citation on PubMed or Free article on PubMed Central
  • Borozdin W, Wright MJ, Hennekam RC, Hannibal MC, Crow YJ, Neumann TE, Kohlhase J. Novel mutations in the gene SALL4 provide further evidence for acro-renal-ocular and Okihiro syndromes being allelic entities, and extend the phenotypic spectrum. J Med Genet. 2004 Aug;41(8):e102. doi: 10.1136/jmg.2004.019505. No abstract available. Citation on PubMed or Free article on PubMed Central
  • Kohlhase J, Chitayat D, Kotzot D, Ceylaner S, Froster UG, Fuchs S, Montgomery T, Rosler B. SALL4 mutations in Okihiro syndrome (Duane-radial ray syndrome), acro-renal-ocular syndrome, and related disorders. Hum Mutat. 2005 Sep;26(3):176-83. doi: 10.1002/humu.20215. Citation on PubMed
  • Kohlhase J, Heinrich M, Schubert L, Liebers M, Kispert A, Laccone F, Turnpenny P, Winter RM, Reardon W. Okihiro syndrome is caused by SALL4 mutations. Hum Mol Genet. 2002 Nov 1;11(23):2979-87. doi: 10.1093/hmg/11.23.2979. Citation on PubMed
  • Kohlhase J, Schubert L, Liebers M, Rauch A, Becker K, Mohammed SN, Newbury-Ecob R, Reardon W. Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy. J Med Genet. 2003 Jul;40(7):473-8. doi: 10.1136/jmg.40.7.473. Citation on PubMed or Free article on PubMed Central
  • Kohlhase J. SALL4-Related Disorders. 2004 Aug 16 [updated 2022 Mar 17]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1373/ Citation on PubMed
  • Miertus J, Borozdin W, Frecer V, Tonini G, Bertok S, Amoroso A, Miertus S, Kohlhase J. A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome. Hum Genet. 2006 Mar;119(1-2):154-61. doi: 10.1007/s00439-005-0124-7. Epub 2006 Jan 3. Citation on PubMed
  • Terhal P, Rosler B, Kohlhase J. A family with features overlapping Okihiro syndrome, hemifacial microsomia and isolated Duane anomaly caused by a novel SALL4 mutation. Am J Med Genet A. 2006 Feb 1;140(3):222-6. doi: 10.1002/ajmg.a.31060. Citation on PubMed

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