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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Holt-Oram syndrome


Other Names for this Disease
  • Atrio digital syndrome
  • Atriodigital dysplasia
  • Cardiac-limb syndrome
  • Heart-hand syndrome
  • Heart-hand syndrome, type 1
More Names
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Symptoms


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What are the signs and symptoms of Holt-Oram syndrome?

People with Holt-Oram syndrome have abnormally developed bones in their upper limbs. At least one abnormality in the bones of the wrist (carpal bones) is present in affected individuals. Additional bone abnormalities may also be present, including a missing thumb, a long thumb that looks like a finger, partial or complete absence of bones in the forearm, an underdeveloped bone of the upper arm, and abnormalities of the collar bone or shoulder blades. These skeletal abnormalities may affect one or both of the upper limbs. If both upper limbs are affected, the bone abnormalities can be the same or different on each side. In cases where the skeletal abnormalities are not the same on both sides of the body, the left side is usually more severely affected than the right side.[1]

About 75 percent of individuals with Holt-Oram syndrome have heart (cardiac) problems, which can be life-threatening. The most common problems are a hole in the muscular wall (septum) that separates the upper right and left sides of the heart (atria), called an atrial septal defect (ASD) and a hole in the septum between the lower chambers of the heart (ventricles), called a ventricular septal defect (VSD). Some affected individuals have cardiac conduction disease, which is caused by abnormalities in the electrical system that coordinates contractions of the heart chambers. Cardiac conduction disease can lead to problems such as a slower-than-normal heart rate (bradycardia) or a rapid and uncoordinated contraction of the heart muscle (fibrillation). Cardiac conduction disease can occur along with other heart defects (such as ASD or VSD) or as the only heart problem.[1]

The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome; however, these two disorders are caused by mutations in different genes. To read more about this condition, click on the link above.[1]
Last updated: 7/19/2011

References
  1. Holt-Oram Syndrome. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/holt-oram-syndrome. Accessed 7/19/2011.