Brachydactyly
 
Brachydactyly is a general term that refers to disproportionately short fingers and toes. It can occur as an isolated finding, or be associated with a pattern of medical findings, called a syndrome. To date, many different forms of brachydactyly have been identified. As a group, they always include excessively shortened tubular bones in the hands and feet. Some forms also result in short stature. Others do not. The majority of types of isolated brachydactyly are inherited as autosomal dominant conditions. Radiographic studies (X-rays) can help physicians differentiate between the different types of brachydactyly. We encourage physicians seeking assistance in making a diagnosis to contact us. Other resources available are listed below.
Our laboratory is focusing our attention on Types C and D brachydactyly, called respectively BDC and BDD. We identified the gene responsible for BDC. This gene is named GDF5 (also known as CDMP1) and it is located on human chromosome 20. We have been able to analyze DNA samples from more than 15 patients and families with BDC and have found a number of different changes within GDF5 that we think are responsible for the condition. Identifying these changes and their effects on the skeleton can give new insights into the processes by which bone and cartilage develop. We have not yet been able to identify the gene responsible for brachydactyly type D and are seeking the assistance of families who are affected with this condition to help us in this search.
We request the participation of additional families in our research.
If you are a patient, or have a patient, with brachydactyly interested in participating in our research, please contact us. For sample submission instructions, please click on how to submit samples
If you are a patient or family member interested in communicating with other families, please email Dr. Warman. Whenever new family members contact us, emails or phone numbers between consenting families will be exchanged. The Center for the Study of Genetic Bone and Joint Disorders does not monitor communications, and therefore cannot be responsible for the accuracy of information exchanged.
Additional information on brachydactyly can be obtained through Online Mendelian Inheritance in Man. This site, with additional references is updated regularly.
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