Duane-radial ray syndrome

What causes Duane-radial ray syndrome (DRRS)?

DRRS 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 DRRS.

Last updated on 05-01-20

How is Duane-radial ray syndrome (DRRS) inherited?

DRRS is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition.

In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation.

When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation.

Last updated on 05-01-20

What is Duane-radial ray syndrome?

Duane-radial ray syndrome (DRRS) 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). Other features include bone abnormalities in the hands (malformed or absent thumbs, an extra thumb, or a thumb that looks like a finger) and partial or complete absence of bones in the forearm. Together, these hand and arm abnormalities are called radial ray malformations. DRRS is caused by mutations in the SALL4 gene and is inherited in an autosomal dominant manner. Treatment of DRRS may include surgery to correct Duane anomaly and radial ray malformations.

Last updated on 05-01-20

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

The varied signs and symptoms of DRRS often overlap with features of other disorders. In fact, some of these disorders are also caused by mutations in the SALL4 gene. 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 DRRS and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms. The features of DRRS also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are sometimes caused by mutations in different genes.

Last updated on 05-01-20

How might Duane-radial ray syndrome (DRRS) be treated?

The treatment of DRRS may vary and often requires a team of specialists. Severe strabismus associated with Duane syndrome and malformations of the hands and forearms may require eye surgery. Individuals with heart defects may also require corrective surgery. Hearing aids may be needed for those with hearing deficits. Growth hormone therapy may additionally be considered for individuals with short stature. Since kidney issues may develop, renal monitoring should also be considered.

Last updated on 05-01-20

Where To Start

Engle Laboratory - Duane-radial ray syndrome

The Engle Laboratory provides information about Duane-radial ray syndrome and the SALL4 gene.

Last updated on 04-27-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: staff@birthdefects.org Url: https://www.birthdefects.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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