The Fascinating World of a Genetic Abnormality: Polydactyly
A person with Polydactyly has extra what?... Did you know that some people are born with a rare condition called polydactyly that still fascinates scientists to this day? Discover the unique medical mystery of this medical anomaly in this captivating article!
What is Polydactyly?
Polydactyly is a genetic condition in which you are born with extra fingers and/or toes on your hands and/or feet. The extra finger or toe can range anywhere from a small lump to a completely formed digit.
This enigmatic condition has confounded scientists and medical practitioners alike for centuries. We are going to work to uncover some of these mysteries for you right here in this article as we delve into the science currently known on Polydactyly.
Polydactyly:
What Causes Polydactyly?
This is a genetic condition that takes place during the development of the feet and hands within the womb. While the fetus is growing, the hands and/or feet may grow a partial or full extra digit.
There are actually a few known types of Polydactyly as well as different mutations that lead to them. While scientific study is still being done on this condition and the different mutations that can lead to it, there are two current major forms of this condition that we are able to look into here.
Preaxial Polydactyly – In this specific form of the mutation, the extra digit is on the side of your big toe or thumb (depending on if it is a finger or toe). This mutation is usually found within the gene called the sonic hedgehog (SHH) gene. No, this is not a joke, that is actually what the gene is called. I will cite my sources to peer reviewed medical and scientific journals so you can look over the literature yourself.
This gene plays a vital role in the development of limbs. It is mainly responsible for producing the sonic hedgehog protein, hence the name, and plays a crucial role in signaling molecules to develop areas of the body including the spinal cord, limbs, and some other organs. This protein makes sure that all of these body parts grow with correct size, shape, and in the correct pattern.
Postaxial Polydactyly – In the postaxial version of this mutation, the extra digit is on the side of the pinky or little toe. This specific for of the mutation is generally associated with the glioma-associated oncogene homolog 3 (GLI3). Mutations in this gene can also be attributed to other mutations such as webbed toes or fingers known as syndactyly.
Both of these congenital malformations have been studied profusely by scientific and medical researchers in order to better understand what treatments can be put into place to improve them as well as preventative measures to stop them from occurring in the first place.
Peer Reviewed & Government Literature References:
Biesecker, L. G. (2011). Polydactyly: how many disorders and how many genes? 2010 update. Developmental Dynamics, 240(5), 931-942.
Symptoms of Polydactyly:
The most prevalent symptom is the addition of an extra digit on the hands or feet. These can either be functional or non-functional depending on the specific case. However, there are also other aspects of physiology that can be changed due to this mutation such as change in limb curve, length, and/or width.
While it is an added layer of physical anomalies, there can also be differences in other organs throughout the body such as the heart, kidneys, brain, and more. This added abnormalities are exceedingly rare, and are not usually seen in cases of polydactyly. In these, decidedly, less common occurrences, polydactyly is usually seen as a sort of symptom in its own right to a larger underlying mutation such as Holt-Oram Syndrom or Bardet-Beidl Syndrome.
Treatments Available:
Most of the time that someone has this mutation there is no need for treatment. However, sometimes, there is cause for surgery in order to remove the extra digit or digits. Surgery may also be suggested in order to correct any other abnormalities in the limbs. This can be done for cosmetic reasons, but most of the time it is for the improvement of the individuals ability to use their hands or feet.
In animals. Polydactyly is actually sometimes a desirable mutation trait to be passed on. For example, some breeds of cats that have polydactyly are actually viewed as unique and desirable.
Living with Polydactyly:
If you have polydactyly, living with the condition will present you with some unique challenges. It will mostly depend on the severity of the mutation, but it can affect your ability to perform some daily tasks or participate in normal activities. Although, with the proper accommodations and learning about the atypical features that this brings, you will most likely lead a mostly normal and fulfilling life. If you choose to opt for surgery to remove the extra digit or digits, you will need minimal physical therapy. Once you complete this, it will be nearly as if there was never an extra finger or toe there.
Often, the diagnosis of this genetic mutation means that you will have a couple of extra normal fingers that you are able to use on your hand, or even toes on your foot.
Possible Comorbidities:
This mutation usually is not accompanied by any intellectual impairments in its own right, but in some rare subcategories within the already rare mutation, there have been polydactyly cases associated with genetic cognitive function disorders such as Down Syndrome and Carpenter Syndrome.
Having the polydactyly mutation itself does not mean that you will have any sort of intellectual impairment whatsoever as the vast majority of individuals with this specific mutation have normal cognitive development and function.
Recap & Summary:
If you were a baby born with an extra digit, or your child was born with more than 5 on the end of each limb; don’t worry, because everything is ok. This is a rare genetic abnormality and mutation that can occur in both humans and animals. While it can provide some unique challenges in life, most of the individuals in the world that have this mutation life long, happy, normal lives. Scientists and medical professionals are still researching this mutation in hopes to further help those in the future that are predisposed to it.
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