Introduction:
Brachydactyly is a clinical condition characterized by small fingers and toes due to rarely observed short bones. It is an inherited condition. Most people experiencing this do not have any serious problems or limitations. There are various types of brachydactyly, depending on the kind of bone shortened. This condition can also indicate the presence of some other genetic disorder.
What Are The Symptoms Of Brachydactyly?
The signs of this condition can be witnessed usually during birth, but it becomes more evident during growth and development due to changes in physical proportion. The most common symptom of brachydactyly is shorter fingers, toes, or both. The affected person does not feel discomfort or pain unless they have other associated conditions. The shortened fingers and toes can make it challenging to have a firmer grip, and the person may have difficulty walking if the condition is severe in the feet. However, these discomforts occur occasionally.
How Is Brachydactyly Caused?
Brachydactyly is an inherited condition. Hence, the cause is attributed to genetics. It is an autosomal dominant condition. This indicates that only one parent with the concerned gene is required to affect the next generation. The reason for such genes can be two mutations in a single gene. Another cause can be the intake of certain medications by the mother during the pregnancy. Also, any changes in the hand and feet blood circulation, especially in babies, may cause this. Some other genetic conditions associated with syndromes that may cause this condition are Down syndrome, Cushing’s syndrome, etc.
What Are The Types Of Brachydactyly?
The various types of brachydactyly are divided based on the affected bones and digits. Following are the five types of brachydactyly:
Type A - Type A brachydactyly is characterized by the shortening of the middle phalanges. This Type A can be further classified based on finger types as the following:
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Type A1: Shortened middle phalanges of all the fingers.
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Type A2: Shortening the index finger and sometimes the little finger can be shortened.
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Type A3: Only the little finger is affected.
Type B -Type B brachydactyly affects the ends of the index and little fingers. The proximal bone on each finger is either shortened or absent. The absence of nails is also observed. A similar scenario is observed in toes. The thumb bones can be flattened or split.
Type C - Type C is unusual and usually affects the index, middle, and little fingers. In this type, the middle phalanges are affected, but the ring finger mostly remains unaffected and appears to be the longest finger on the hand.
Type D - Type D brachydactyly is commonly occurring and affects the thumbs alone. Shortening of the end bones of the thumbs can be seen, but all the fingers appear normal.
Type E - Type E brachydactyly is a rare type and is characterized by the presence of shortened metacarpals and metatarsals. These bones are the third and fourth from the end of the digits in the hands and feet. This leads to shorter appearing hands and feet.
How Is Brachydactyly Diagnosed?
When you visit your physician, you will be asked certain questions about the types of signs and symptoms you face, family history, and personal history. Following this, a careful examination of the hands and feet will be done to diagnose brachydactyly. X-rays can also be utilized to visualize the shortened bones and for diagnosing the type of brachydactyly. In mild cases, an X-ray alone can help in diagnosing the condition.
A full-body skeletal examination is done to check if brachydactyly is part of a syndrome or not. Also, this helps in visualizing whether other bones are normal in the body or not, thus the presence of syndrome can be assessed. Genetic testing may also be required to determine the presence of the syndrome.
How Can Brachydactyly Be Treated?
Most cases of brachydactyly do not require any treatment. If the condition is not associated with any other syndrome, the person should be healthy and will not have any medical concerns related to the hands and feet.
Rarely, brachydactyly can be severe enough to cause problems with performing various functions. The affected person may have issues with gripping things or walking normally. In such cases, physical therapy can be given. Physical therapy can lead to an improvement in the range of motion and both strength and functions of the affected areas can be enhanced.
Another option is surgery. However, this method is chosen in rare and severe cases. Plastic surgery can be done for cosmetic purposes, or in unusual cases, it can help in improving the functions. Most of the patients requiring surgery usually have an associated syndrome or condition. The surgery chosen may include an osteotomy, which means cutting and shaping the bone. This can help in the gradual lengthening of the short fingers.
What Are The Risk Factors?
The risk factors for this condition are as follows:
1. Brachydactyly is typically an inherited or genetic condition. Hence, if a family member has brachydactyly, the risk of developing this condition is much higher.
2. If the child is born with Down syndrome, the risk for brachydactyly is increased.
3. Women have an increased risk of developing brachydactyly than men. This can be partially linked to the fact that women are more likely to experience the complete expression of the trait than men. Hence, this condition is more observable in females.
Are There Any Complications?
Most people with brachydactyly do not experience any major complications that are known to interfere with their daily activities. In a few cases, if the brachydactyly is severe, it can limit the functions of the hands or may cause difficulty in walking. Surgery and physical therapy can prove to be useful in such cases.
Conclusion:
Brachydactyly is a clinical condition characterized by shortened limbs and does not cause any major effects in most cases. You can consult a specialist online through online medical platforms to know more about this condition.
