Complete Information on Brachydactyly

by : Juliet Cohen



BD is usually isolated, meaning that it is not associated with any other medical problems. Brachydactyly (BD) refers to shortening of the fingers or toes due to underdevelopment of the bones in the hands or feet. The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait. It most often occurs as an isolated dysmelia, but can also occur with other anomalies as part of many congenital syndromes. It can occur as an isolated finding, or be associated with a pattern of medical findings, called a syndrome. Many different forms of brachydactyly have been identified.

In clinical genetics the most commonly used index of digit length is the dimensionless ratio of the length of the 3rd finger to the hand length. Both are expressed in the same units and are measured in an open hand from the fingertip to the principal creases where the finger joins the palm and where the palm joins the wrist. As a group, they always include excessively shortened tubular bones in the hands and feet. This shortening occurs when one or more of the hand or foot bones fail to develop or grow normally. Some forms also result in short stature. The majority of types of isolated brachydactyly are inherited as autosomal dominant conditions.

There are several types of Brachydactyly. BDA1 is an autosomal dominant inherited disease. A form of brachydactyly that involves characteristic features of types A2 and D brachydactyly plus features found in other types of brachydactyly and also features not previously noted. This set of findings represents a new syndrome, which we have termed brachydactyly type A7 Brachydactyly Type A2 is a very rare form of brachydactyly. The phalanges of the index fingers and second toes are shortened. Brachydactyly type A5 nail dysplasia. In the above brachydactyly syndromes, short digits are the most prominent of the anomalies.