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What Causes Brachydactyly & What is Its Treatment?

What is Brachydactyly?

Brachydactyly is an inherited pathological condition in which a child is born with extremely short fingers and/or toes due to the bones being extremely short.1 It is usually a benign condition and does not affect the child in any way from living a normal life. This condition has different forms which depend on which bone is short.

What is Brachydactyly?

Brachydactyly also suggests the presence of a genetic medical condition. In majority of the cases of Brachydactyly, there is no treatment needed unless the bones are so short that they start to impair the function of the hand or feet, although when the child grows and is able to understand things that he or she may become conscious of their fingers being short than their peers and may feel uncomfortable and not so good about it.

What Causes Brachydactyly?

As stated above, Brachydactyly is a condition that is inherited meaning that there is a genetic cause to this condition.2 This also means that there will also be other members of the family who will have the same condition that is of having short fingers or toes. In some cases, brachydactyly may also present as a symptom of some other inherited condition which will have their own symptoms and signs.

What are the Symptoms of Brachydactyly?

Since Brachydactyly is an inherited medical condition thus the clinical manifestations of this condition will be clearly visible when the child is born which means at the time of birth the child will have extremely short fingers or toes as compared to a normal child. This shortening may not be that apparent at the time of birth to the parents but as the child grows this deformity will become clearly visible with the fingers and toes being extremely short than what the normal is. Brachydactyly does not cause any pain or discomfort, or in fact any symptom to speak of unless it is accompanied by some other medical condition. Because of this condition, the child may find it difficult to find shoes or gloves that may fit him or her properly. The child may also find it tough to grip or grasp objects. In case of this condition affecting the feet then ambulation may also be affected.

What are the Classifications of Brachydactyly?

Based on the bones affected by Brachydactyly, this condition has been classified into four types 3:

Type A: In this, type, there is extreme shortening of the middle phalanges and this is further divided into three subgroups of which in the first subtype (A1) the middle phalanx is shortened, in the second subtype (A2) the index and the little finger is shortened, whereas in the third subtype (A3) only the little finger is shortened.

Type B: This is a type of Brachydactyly in which only the ends of the fingers get affected which means the very last bone of every finger is either missing or is extremely shortened. There are also no nails present in the fingers. This may also be present in the toes.

Type C: This type of Brachydactyly affects the index, middle, and little fingers and is pretty rare.

Type D: This is the most common type of Brachydactyly and in this only the thumb is affected and the remaining fingers are all normal.

How is Brachydactyly Diagnosed?

A close physical examination by the physician of the infant is generally enough to diagnose Brachydactyly as the deformity is quite visible and does not need additional examination; however in some cases x-rays are taken to make a note of which bones have been affected by the disease condition. In cases where this condition is extremely mild then only radiological studies are able to detect the presence of Brachydactyly. In case of Brachydactyly is a part of another disorder then a full series of radiological studies involving the full skeletal system may be required to pinpoint the diagnosis. A genetic testing for confirmatory diagnosis may also be required.

What is the Treatment for Brachydactyly?

In majority of the cases of Brachydactyly, there is fortunately no treatment required but the affected child should make sure not to incur any other medical condition with regard to the hands or toes. In severe cases of Brachydactyly, the child may have difficulty in gripping and grasping objects for which physical and occupational therapy may be useful in training the child how to cope up with this defect caused by Brachydactyly.

What is the Overall Prognosis of Brachydactyly?

When it comes to the overall prognosis of Brachydactyly, children with this condition more often than not lead normal lives without any problems. There may be some issues with the mental state of the child due to having a deformity which their peers do not have but this can be taken care of with psychological counseling to help the child cope up with Brachydactyly.


Team PainAssist
Team PainAssist
Written, Edited or Reviewed By: Team PainAssist, Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:July 15, 2019

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