About 75% of affected people have heart problems, which can be life-threatening. The most common problems are an atrial septal defect (ASD) and a ventricular septal defect (VSD). Some people 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).The features of Holt-Oram syndrome are similar to those of a condition called Duane-radial ray syndrome but these two disorders are caused by mutations in different genes.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the wrist||90%|
|Abnormality of the metacarpal bones||50%|
|Aplasia/Hypoplasia of the radius||50%|
|Aplasia/Hypoplasia of the thumb||50%|
|Atria septal defect||50%|
|Ventricular septal defect||50%|
|Hypoplasia of the radius||37.8%|
|Abnormality of the aorta||7.5%|
|Abnormality of the humerus||7.5%|
|Abnormality of the ribs||7.5%|
|Abnormality of the shoulder||7.5%|
|Abnormality of the sternum||7.5%|
|Anomalous pulmonary venous return||7.5%|
|Aplasia of the pectoralis major muscle||7.5%|
|Complete atrioventricular canal defect||7.5%|
|Hypoplastic left heart||7.5%|
|Patent ductus arteriosus||7.5%|
|Abnormality of the carpal bones||-|
|Abnormality of the vertebrae||-|
|Autosomal dominant inheritance||-|
|Partial duplication of thumb phalanx||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Genetic Analysis of Limb Malformation Disorders
University of Washington SOM
Department of Pediatrics
Division of Genetics & Developmental Medicine
1959 NE Pacific St. HSB RR349 B
Seattle, WA 98195-6320 USA
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My daughter was diagnosed in the womb with this disease. This disease is not heard of in my family so what happened to me while I was pregnant with her? I was very careful. We are lucky she has no problems with her heart, many electrocardiograms showing nothing abnormal. Is it possible something can develop over time, any place in her body - especially her heart? How likely is it for her to have a child of her own with this disease? I had my son two years after her and he is fine. See answer
During a recent meeting with a geneticist regarding my youngest son, my two boys and I were diagnosed with Holt-Oram syndrome. Why is my youngest son affected much worse than myself and my oldest son? Why, after 24 years, was I just diagnosed? I have been to doctors all my life. Also, what can I do to get the help needed to improve the well being of my boys and myself? See answer
I would like to know if heart-hand syndrome is associated with mental retardation. What is the normal lifespan of people with this condition? See answer