Do you also have short fingers and toes? (Brachydactyly) Let's talk about it!

Have you ever noticed that some people have fingers or toes that are a little shorter than others? Maybe someone in your family has it, or maybe you have experienced it yourself. When you see this, a small question may come to mind, "Why does this happen?". Today we are going to talk about this condition of shortened fingers. In medicine, we call this (Brachydactyly) (brachy-dacty-lee).

What is this (Brachydactyly)? Let's understand it simply!

Simply put, the word brachydactyly means "short fingers." This usually means that the fingers on your hands or feet are shorter than the average person's fingers. Don't worry, this is a genetic condition . That is, it happens because of a change (gene mutation) in a gene that affects bone growth in our body. Think of it like a small change in the way our body is designed to grow.

Are there different types of brachydactyly?

Yes, this condition (Brachydactyly) can affect you in different ways. That is, there are several types of it, depending on which bones are affected, and where on the hand or leg this shortening occurs . Not all types are the same. In some types, only one finger may be shortened, while in other types, several fingers may be shortened.

Who is most affected by this condition (Brachydactyly)?

Actually, this condition (Brachydactyly) can happen to anyone . Since it is genetic, it can often be passed down from family to family, that is, from generation to generation . If your mother or father has this condition, there is a chance that you will also have it. However, sometimes, even if no one in the family has had this condition before, someone can develop it randomly. It may be due to a random change in the genes.

How common is this condition?

Most types of brachydactyly are rare . That is, they are not common. However, there are two types of brachydactyly, type A3 and type D , which are more common. Studies suggest that approximately 2% of the population may have one of these two types. So, if you have one of these, remember that you are not alone.

How does (Brachydactyly) affect my body?

Many people wonder if it will affect their daily activities. Fortunately, in most cases, brachydactyly does not significantly affect the way you use your fingers . This means that you will not have any major problems with writing, holding things, or walking. It is mostly a cosmetic change .

However, very rarely , some people may experience some difficulty walking due to the shortening of their fingers, or may have difficulty performing fine movements with their fingers. However, this is very rare.

What are the symptoms of Brachydactyly?

The main and most obvious symptom of this condition is the shortening of the bones in your hands and/or feet . This is why your fingers appear shorter than normal when compared to the rest of your body.

Now let's see what kind of bones can be shortened in this way:

• Phalanges: These are the bones inside the joints of our fingers and toes. You know, we have two joints in our thumbs and big toes, and three joints in each of our other fingers. These joints are what help us bend and straighten our fingers.
• We call the bone of the finger just below the nail the ``distal phalanx``.
• Then the middle phalanx (the thumb does not have this) is the middle phalanx.
• The proximal phalanx is the first bone on the palm side, closest to the knuckle that protrudes when the hand is clenched.

Any of these phalanxes can be shortened.

• Metacarpals: These are the bones that make up our hands, below the knuckles. To be precise, these are the long bones that run from the knuckles to the wrist. If these are short, the hand can look a little small.

• Metatarsals: Just like the metacarpals in the hands, the metatarsals are the bones that make up the top of the foot, just below the toes and in front of the heel. If these bones are short, the foot can appear shorter.

Important: Sometimes brachydactyly can be a symptom of another genetic condition that causes short stature (i.e., reduced height). That's why it's important to seek medical advice.

What are the causes of brachydactyly?

As we mentioned earlier, the main cause of Brachydactyly is a gene mutation . That is, there is a change in the genes that control bone growth in our body. Each type of Brachydactyly is caused by a different gene.

In addition, several other reasons may influence:

• Certain medications taken by the mother during pregnancy: For example, some medications used to treat epilepsy, such as antiepileptic medicines, can rarely cause this condition in the baby.
• Reduced blood supply to the limbs during infancy: If the limbs do not receive adequate blood flow during infancy, it can affect bone development and cause this condition.
• As a symptom of other genetic conditions: For example, brachydactyly can also be seen in people with other complex genetic conditions, such as Down syndrome .

Is Brachydactyly inherited?

Yes, it can definitely be inherited. Since it is a genetic condition, if one of the parents has the condition, there is a chance that the children will also inherit it. In medical terms, we call this ``autosomal dominant`` inheritance. Simply put, the condition can occur even if there is only one copy of the affected gene. In most cases, if someone in the family has the condition, it can be seen for several generations.

"Will my children inherit this?" If you have this question in mind, the best thing to do is talk to a doctor and get genetic testing and genetic counseling. This will give you a clear understanding of your risk.

How do doctors diagnose the condition (Brachydactyly)?

Brachydactyly can be diagnosed at different times. Sometimes doctors notice it during infancy . Or, it is only diagnosed when the child is a little older, that is, during childhood or adolescence, when the shortening of the fingers becomes clearly visible.

A doctor will mainly do the following to diagnose this condition:

1. Ask about your and your family's medical history: Does anyone in your family have this condition, do you have any other illnesses, etc.

2. A physical examination will be performed: Your fingers and toes will be carefully examined to see the extent of the shortening and which fingers are affected.

3. An X-ray is ordered: This is the only way to see exactly which bones are shortened and where.

4. You may be asked to do a genetic test: This can help determine which specific gene is responsible for these symptoms.

What are the treatments for Brachydactyly?

There's good news here too. In most cases, brachydactyly doesn't significantly affect the use of your fingers and toes, so no special treatment is needed. That means you can live a normal life.

However, although rare, due to shortening of the fingers:

• If you have difficulty moving your fingers properly, holding something, or performing delicate tasks,
• Or if it is difficult to walk,

In such cases, reconstructive surgery can improve the function of the limb to some extent. This may involve lengthening the bone or making other adjustments.

Additionally, some people, if they don't like the way their fingers look , voluntarily decide to undergo cosmetic surgery to change their appearance. This is a completely personal decision.

Are there ways to prevent brachydactyly?

Because this is a genetic condition, meaning it can be passed down through generations, it's a little difficult to completely prevent. We can't control our genes.

However, if you are expecting a baby, you can do things like:

• If you, your partner, or someone in your family has brachydactyly, it is important to seek genetic counseling . This will help you understand the risk of your child inheriting the condition.
• We've discussed that some medications taken during pregnancy can also cause this condition. So, if you're planning to get pregnant, talk to your doctor about all the medications you're currently taking. It's best not to stop taking any medications or start new ones without your doctor's advice.

What is the future for someone with brachydactyly?

In most cases, brachydactyly does not have a significant impact on a person's daily life or well-being. Because, as we mentioned earlier, the ability to use the fingers is not lost.

However, very rarely , in some severe forms of brachydactyly, the use of the hands and fingers may be limited, or walking may be difficult. But this only happens to a very small number of people.

Often, brachydactyly is just something about appearance that makes you a little different from others. It can be seen as part of your identity, your uniqueness.

When should you see a doctor?

After being diagnosed with brachydactyly, you should definitely see a doctor if you experience any of the following:

• If you cannot use your limbs properly (e.g., if you have difficulty holding something, if you have difficulty walking).
• If there is pain or discomfort in the affected fingers.
• If you have any doubts, fears, or other questions about this.

Important questions to ask the doctor

When you go to see a doctor, don't hesitate to ask all the questions you have. For example, you can ask questions like:

• "Doctor, will I need to have surgery or something to move my fingers properly and be able to do things?"
• "Is there a risk that my children will inherit this genetic condition in the future? What can I do to find out about it?"
• "Will the medications I'm currently taking (especially if I'm planning to get pregnant) affect my baby's chances of developing this condition?"

Is Brachydactyly a disability?

Generally, the diagnosis of brachydactyly alone is not considered a disability, as it often does not significantly affect a person's functioning.

However, some complex genetic syndromes with very severe symptoms associated with this condition (Brachydactyly) (for example, conditions with very complex names like ``Brachydactyly-mesomelia-intellectual disability-heart defects syndrome)`` can be classified as a disability. However, this is determined by doctors, depending on the severity of the symptoms.

Remember, most of the time, brachydactyly doesn't cause any problems with movement or the use of your limbs. Your shortened fingers make you look a little different from others. That's your uniqueness! However, if you have difficulty using your fingers due to this condition, or if you have pain, don't forget to see a doctor.

Finally, the most important things to keep in mind (Take-Home Message)

Okay, so, from what we've talked about (Brachydactyly), here are the most important things to keep in mind:

• Brachydactyly is a genetic condition that causes the fingers and toes to become shorter.
• Most of the time, this doesn't cause any major health problems or interfere with function. It's mostly just a matter of appearance.
• If the function of the fingers is affected, there are treatments available, including surgery.
• It is important to seek genetic counseling to learn about the inheritance of this condition in the family .
• It is essential to talk to your doctor about medications you take during pregnancy and follow their advice.
• If you have any discomfort, pain, or doubts regarding this, do not hesitate to seek medical advice.

I hope this information is useful to you. Stay healthy!

` Brachydactyly, shortening of fingers, short fingers, genetic diseases, bone growth, congenital condition, limbs