Duane-Radial Ray Syndrome

Common Name(s)

Duane-Radial Ray Syndrome

Duane-radial ray syndrome is a disorder that affects the eyes and causes abnormalities of bones in the arms and hands. This condition is characterized by a particular problem with eye movement called Duane anomaly (also known as Duane syndrome). Bone abnormalities in the hands include malformed or absent thumbs, an extra thumb, or a 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 called radial ray malformations. Duane-radial ray syndrome is caused by mutations in the SALL4 gene.  It is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity.  Some cases result from new mutations in the SALL4 gene.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Duane-Radial Ray Syndrome" for support, advocacy or research.

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Duane-Radial Ray Syndrome" returned 2 free, full-text research articles on human participants. First 3 results:

Magnetic resonance imaging of innervational and extraocular muscle abnormalities in Duane-radial ray syndrome.
 

Author(s): Joseph L Demer, Robert A Clark, Key Hwan Lim, Elizabeth C Engle

Journal: Invest. Ophthalmol. Vis. Sci.. 2007 Dec;48(12):5505-11.

 

The authors used magnetic resonance imaging (MRI) to study extraocular muscles (EOMs) and nerves in Duane-radial ray (Okihiro) syndrome (DRRS) caused by mutations in the transcription factor SALL4.

Last Updated: 6 Dec 2007

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Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
 

Author(s): Raidah Al-Baradie, Koki Yamada, Cynthia St Hilaire, Wai-Man Chan, Caroline Andrews, Nathalie McIntosh, Motoi Nakano, E Jean Martonyi, William R Raymond, Sada Okumura, Michael M Okihiro, Elizabeth C Engle

Journal: Am. J. Hum. Genet.. 2002 Nov;71(5):1195-9.

 

Duane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred ...

Last Updated: 25 Oct 2002

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Reviews from the PubMed Database

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The terms "Duane-Radial Ray Syndrome" returned 0 free, full-text review articles on human participants.

 
 
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