What is it?

The word "brachydactyly" (pronounced "brack-ee-dack-til-ee") is derived from an ancient Greek term for "short digits." It is used to describe unusually short fingers and toes. Brachydactyly belongs to a group of limb malformations characterized by abnormal bone development resulting in shortened digits.

The appearance of brachydactyly can vary and depends on which bones are affected and how short they are. Shortened bones can occur in one, a few, or all of the digits. In some cases, there may be no growth of certain bones at all. Most types of brachydactyly are very rare. Types A3 and D (see below) are the most common types, affecting an estimated 2% of people.  

What causes it?

Brachydactyly is caused by improper development or growth of the bones in the feet or hands. It usually occurs well before birth, at some point during the first 8 weeks of development in the womb, and is usually a result of a genetic defect. Sometimes it can be caused by exposure to medications taken during pregnancy or by blood flow problems to the hands or feet.

Brachydactyly is often inherited, and similar digit patterns may be seen among family members.

How is it diagnosed?

There are 5 main types of brachydactyly, types A through E. The type A group of brachydactyly is subdivided into subgroups. The specific type of brachydactyly a person has is determined by which specific digits are affected and how they are affected.

Brachydactyly can be diagnosed by physical evaluation and X-ray. Doctors may also ask about family and medical history.

What is the prognosis?

If the malformation of the digits is not severe, then hand and foot function will be normal. Function can be severely affected with more pronounced cases of brachydactyly.

Brachydactyly is usually not related to other health problems. However, in some people, it may occur with other medical problems as part of a malformation syndrome. These people may have other physical malformations. If brachydactyly occurs as part of a syndrome, the effects will depend on the other malformations present.

How is it treated?

There is no specific treatment needed for most types of brachydactyly, as many people who have it can to function normally. Plastic surgery can be done on the digits for cosmetic purposes or if hand function is severely affected. Physical therapy can also be done in order to improve hand function.