Brachydactyly

Written by Mary Ellen Ellis
Medically Reviewed by George Krucik, MD, MBA on May 30, 2013

Brachydactyly Overview

Brachydactyly is a shortening of the fingers and toes due to unusually short bones. This is an inherited condition, and in most cases does not present any problems for the person who has it. There are different types of brachydactyly, based on which bones that are shortened. This condition can also be a symptom of other genetic disorders.

Unless there is an accompanying disorder that produces symptoms, or the shortened digits impair the use of hands and feet, there is no treatment needed for brachydactyly. If you have this condition, you might feel a little self-conscious about your shorter fingers and toes, but there is no reason to be worried about any health problems.

Symptoms of Brachydactyly

Brachydactyly is an inherited condition. The signs are usually present at birth, but it is possible that shortened digits may become more obvious with growth and development. The main symptom or sign of brachydactyly is having fingers, toes, or both, that are shorter than normal. Unless you have another condition associated with brachydactyly, you should not feel any pain, or have any other symptoms.

The shortened fingers and toes of brachydactyly may cause you to have trouble finding shoes and gloves that fit. You may also experience some difficulty with grip. If the brachydactyly is severe in the feet, you may have some impaired walking. These symptoms are rare, however, when there is no accompanying condition.

Causes of Brachydactyly

Brachydactyly is an inherited condition, which means that the cause is genetic. If you have shortened fingers or toes, you most likely can find other members of your family that have the same condition. It is also possible that your brachydactyly is symptomatic of a genetic syndrome. If this is the case, you will have other symptoms besides the shortened fingers or toes.

Types of Brachydactyly

The different types of brachydactyly are categorized by the bones and digits affected.

Type A

Type A brachydactyly is the shortening of the middle phalanges. These are the finger bones that are the second from the end of each digit. Type A is further classified by finger. In type A1, the middle phalanges of all the fingers are shortened. Type A2 affects the index finger and sometimes the little finger. Type A3 affects only the little finger.

Type B

Type B brachydactyly affects the end of each finger. The last bone on each finger is shortened or completely missing. The nails are also absent. The same occurs in the toes. The thumbs may be shorter, but are intact.

Type C

Type C is rare and affects the index, middle, and little fingers. The middle phalanges, as in type A, are shortened, but the ring finger is often not affected and is the longest finger on the hand. 

Type D

Type D brachydactyly is considered to be common and affects only the thumbs. The end bones of the thumbs are shortened but all the fingers are normal. 

Type E

Type E brachydactyly is a rare form if it is not accompanied by another disorder. It is characterized by shortened metacarpals and metatarsals. These are the bones in the hands and feet that are third and fourth from the end of the digits. The result is small hands or feet.

Diagnosis of Brachydactyly

A careful examination of the hands and feet by a doctor may be enough to diagnose brachydactyly. X-rays can also be used to see which bones are shortened and to diagnose the type of brachydactyly. In mild cases, an X-ray may be the only way to tell that the condition is present.

To determine if brachydactyly is part of a syndrome, a full skeletal X-ray may be done. This can help determine if other bones in the body are abnormal, which can pinpoint a syndrome. Genetic testing may also be necessary to determine if the syndrome is present.

Treatment for Brachydactyly

In a large majority of cases of brachydactyly, no treatment is necessary. If your condition is not a part of another syndrome, you should be healthy and have no medical concerns related to your hands and feet.

In rare cases, brachydactyly may be severe enough to present problems. You may have trouble gripping things or walking normally. In these instances, physical therapy can help. In extreme cases, surgery may help.

Prognosis for Brachydactyly

Almost all people with brachydactyly live completely normal lives. Some may feel self-conscious about the appearance of their hands or feet, but are otherwise healthy. If brachydactyly is connected to another syndrome, the outlook varies depending on each individual situation.

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