Brachydactyly: Causes, Symptoms, Diagnosis, Treatment, and Prevention
A condition known as brachydactyly affects the fingers and toes, causing them to be shorter than normal. This condition is inherited or caused by other factors, such as injuries, infections, and hormonal imbalances. A brachydactyly can affect one or more digits, varying in appearance and severity.
Causes of Brachydactyly
The condition is usually caused by a genetic mutation that affects the development and growth of the fingers and toes. Depending on which genes are affected and how they alter the bone structure, brachydactyly can be inherited from one or both parents, or it can occur spontaneously during early embryonic development.
Some of the common types of brachydactyly are:
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Type A: The middle bone of the finger or toe is shortened, resulting in a stubby appearance.
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Type B: The ends of the fingers or toes are shortened, resulting in a missing or underdeveloped nail.
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Type C: The middle and end bones of the finger or toe are fused together, resulting in a cone-shaped appearance.
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Type D: The end bone of the thumb is shortened, resulting in a broad and short thumb.
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Type E: The entire finger or toe is shortened, affecting all the bones and joints.
Brachydactyly can also be caused by other factors, such as:
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Injury: Trauma to the fingers or toes can damage the growth plates, which are the areas of cartilage that allow the bones to grow. This can result in premature closure of the growth plates, leading to shortened bones.
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Infection: Infections that affect the bones, such as osteomyelitis, can interfere with the normal growth and development of the fingers and toes, causing them to be shorter than normal.
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Hormonal imbalance: Hormones, such as thyroid hormone and growth hormone, play a role in regulating the growth and development of the bones. Abnormal levels of these hormones can affect the growth of the fingers and toes, causing them to be shorter or longer than normal.
Symptoms of Brachydactyly
In addition to the physical appearance of the fingers and toes, brachydactyly usually does not cause any symptoms. Due to the reduced length and mobility of the digits, some people may have difficulty grasping, writing, typing, or playing musical instruments. In addition to affecting someone's self-esteem and confidence, brachydactyly can also negatively impact some people's self-esteem and self-confidence.
Diagnosis of Brachydactyly
Brachydactyly can be diagnosed by a physical examination of the hands and feet, and by taking a family history of the condition. The doctor may also order some tests, such as:
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X-rays: X-rays can show the structure and length of the bones in the fingers and toes, and help identify the type and severity of brachydactyly.
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Genetic testing: Genetic testing can identify the specific gene mutation that causes brachydactyly, and help determine the inheritance pattern and the risk of passing it on to future children.
Treatment of Brachydactyly
Brachydactyly does not require any treatment, unless it causes functional or cosmetic problems. Some of the possible treatment options are:
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In order to improve the appearance and function of the fingers and toes, surgery can be performed to lengthen, straighten, or separate the bones. Deformities that are associated with surgery, such as syndactyly (webbed fingers or toes) or polydactyly (extra fingers or toes), can also be corrected with surgery. Children are usually operated on when their bones are still growing and more flexible.
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Rehabilitation and recovery after surgery can be made easier with physical therapy, which can improve the strength and range of motion of the fingers and toes, as well as prevent stiffness and contractures.
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Brachydactyly can be managed through occupational therapy, which can include using assistive devices, learning new skills, or finding alternative ways to perform tasks.
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Behavioral counseling can help with the emotional and social aspects of brachydactyly, such as dealing with stress, anxiety, depression, or low self-esteem, as well as bullying, discrimination, or stigma.
Prevention of Brachydactyly
Brachydactyly cannot be prevented, as it is mostly a genetic condition that is present at birth. However, some of the possible ways to reduce the risk of brachydactyly are:
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During prenatal screening, brachydactyly and other genetic conditions can be detected, allowing the parents to make informed decisions about the pregnancy and the child's future.
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If you have brachydactyly or have a family history of brachydactyly, genetic counseling can provide you with information and guidance, and help you understand the inheritance pattern, the risk of recurrence, and your options for testing, treatment, and support.
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Keeping the fingers and toes free of injury or infection will prevent damage to the growth plates, and reduce the chance of developing non-genetic brachydactyly.
