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Duane-radial ray syndrome


Other Names for this Disease
  • Acrorenoocular syndrome
  • DR syndrome
  • DRRS
  • Duane anomaly with radial abnormalities and deafness
  • Okihiro syndrome
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Your Question

My daughter has Duane syndrome type 1. In addition, the thumb on her right hand looks more like a finger than a thumb and does not bend at all at the knuckle. She is also missing all of the muscle under this thumb in the area of her palm. Her hand specialist has diagnosed her with radial hypoplasia with absent radial movement. I wonder if my daughter may have Duane-radial ray syndrome. Can you provide me with information about this condition that I can share with my daughter's doctor?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is 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.[1] It is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity.[1][2] Some cases result from new mutations in the SALL4 gene.[1]
Last updated: 12/14/2009

What are the symptoms of Duane-radial ray syndrome?

Duane-radial ray syndrome 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). Duane anomaly results from the improper development of certain nerves that control eye movement. This condition limits outward eye movement (toward the ear), and in some cases may limit inward eye movement (toward the nose). As the eye moves inward, the eye opening becomes narrower and the eyeball may pull back (retract) into its socket.[1] Duane syndrome may be unilateral (affecting only one eye) or bilateral (affecting both eyes).[2]

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.[1]

People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include unusually shaped ears, hearing loss, heart and kidney defects, a distinctive facial appearance, an inward- and downward-turning foot (a clubfoot), and fused spinal bones (vertebrae).[1]

Last updated: 12/14/2009

What causes Duane-radial ray syndrome?

Duane-radial ray syndrome is caused by mutations in the SALL4 gene. The SALL4 gene is part of a group of genes called the SALL family. These genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. SALL proteins act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. Mutations in the SALL4 gene prevent one copy of the gene in each cell from making any protein. It remains unclear how a reduction in the amount of SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome.[1]
Last updated: 12/14/2009

How is Duane-radial ray syndrome inherited?

Duane-radial ray syndrome is often inherited in an autosomal dominant pattern with incomplete penetrance and variable expressivity.[1][2] This means that one copy of the altered gene in each cell is sufficient to cause the disorder, but sometimes, an individual will inherit the gene without showing signs of the condition or will show symptoms that differ from other members of the same family. Some cases of Duane-radial ray syndrome result from new mutations in the SALL4 gene. These cases occur in people with no history of the disorder in their family.[1]
Last updated: 12/14/2009

Are there other conditions which closely resemble Duane-radial ray syndrome?

The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders. For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms. The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.[1]
Last updated: 12/14/2009

How might Duane-radial ray syndrome be treated?

The treatment of Duane-radial ray syndrome is symptomatic and supportive. Severe strabismus associated with Duane syndrome may require eye surgery. Severe malformations of the hands and forearms may require surgery (i.e. surgery to correct aplasia of the thumb by constructing a functional thumb (pollicization). Those with heart defects may also require corrective surgery. Hearing aids may be needed for those with hearing deficits. Growth hormone therapy may be considered for those with short stature. Since kidney issues may develop, renal monitoring should also be considered.[3]
Last updated: 12/14/2009

References