A person with polydactyly is born with one or more extra fingers or toes. The extra digit typically develops next to the fifth finger or toe or may develop near the thumb. One or both hands or both feet may be affected. Different varieties of polydactyly exist.
Typically, polydactyly runs in families. Environmental factors or genetic mutations may also contribute to it. Some are associated with a few syndromes. Depending on the type of polydactyly, various treatments are available. Surgery is typically used to remove the extra digit.
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This article provides an overview of symptoms, types, causes, diagnosis, and treatment of polydactyly. Continue reading to know more.
First, let’s see,
Symptoms of Polydactyly
One or both feet or hands of a person with polydactyly have extra toes and/or fingers.
The extra digit or digits may be:
- fully developed and functional
- partly developed with some bone
- just a small mass of soft tissue (called nubbin)
Types of Polydactyly
- Isolated or nonsyndromic polydactyly: In this type, most frequently, polydactyly occurs without other abnormalities.
- Syndromic polydactyly: It occasionally has a connection to another genetic disorder or genetic abnormalities.
Isolated polydactyly
According to where the extra digit is located, there are three different types of isolated polydactyly:
- Postaxial polydactyly occurs outside the hand or foot, where the fifth digit is. On the hand, this is referred to as the ulnar side. It is the most typical form of polydactyly.
- Preaxial polydactyly develops inside the thumb or big toe of the hand or foot. On the hand, this is referred to as the radial side.
- Central polydactyly occurs on the middle digits of the hand or foot. It is a rare type.
Researchers have categorized subtypes based on variations in the malformation and the genes involved as genetic technology has advanced.
Causes of Polydactyly
Isolated or Nonsyndromic Polydactyly
Isolated polydactyly is often inherited genetically from one parent. It is called autosomal dominant inheritance.
The involved six specific genes have been identified:
- GLI3
- GLI1
- MIPOL1
- ZNF141
- PITX1
- IQCE
These genes’ chromosome locations have also been determined.
Syndromic Polydactyly
- As genetic technologies have advanced, researchers have discovered more genes and mechanisms related to polydactyly and its associated syndromes. Genetic mutations that impact the signalling pathways during an embryo’s development are the basis for the syndromes.
- Malformations of the limbs are frequently linked to issues with other organs. Researchers hope to clarify the mechanisms underlying limb development as they gain more knowledge about these genes.
Now, let’s discuss about,
Diagnosis of Polydactyly
- In the first three months of development, polydactyly in the embryo can be seen using ultrasound. The polydactyly could be a standalone condition, or it could be linked to another genetic syndrome.
- If polydactyly runs in the family, the doctor will inquire. To look for chromosomal anomalies that might point to other conditions, they might also perform genetic testing.
- If other genetic disorders are present, the doctor and perhaps a medical geneticist will talk about the child’s prognosis.
- After birth, polydactyly can be immediately identified. The child’s chromosomes will undergo additional testing if the doctor suspects the child has other genetic disorders.
- To determine how the involved digit(s) are attached to the other digits and whether they have bones, the doctor may also order an X-ray of the digit(s).
Treatment of Polydactyly
The polydactyly treatment will depend on the manner and location of the extra digit’s connection to the hand or foot. The extra digit is typically removed during the first two years of a child’s life. Due to this, the child can use their hands as they usually would, and their feet can now wear shoes.
Adults may undergo surgery to enhance their hands or feet’ appearance. Most surgeries are performed as outpatients under local or topical anesthesia. Research into various surgical procedures is ongoing.
- Fifth digit
A little finger or toe that is extra is typically easy to remove. Nubbins used to typically just be tied off, but this frequently left a bump. Surgery is now preferred. Stitches will be used to close the wound on the child. Within two to four weeks, the stitches fall out.
- Big toe or the thumb
An extra thumb may be difficult to remove. The remaining thumb needs to be at the ideal angle and shape to function properly. The soft tissues, tendons, joints, and ligaments of the thumb may need to be modified to accomplish this.
- Toes or central fingers
This surgery is typically more complex and necessitates hand remodeling to guarantee full functionality. The child might need more than one surgery, and the recovery period could include a few weeks of having them in a cast.
The bones may occasionally need to have a pin inserted to keep them together while they heal. The doctor may recommend physiotherapy to lessen scarring and enhance function.
Outlook
Polydactyly is a quite common condition. It has been represented in prehistoric artwork for thousands of years and has been handed down through the generations.
In most cases, routine surgery can remove the extra digit if polydactyly is not linked to other genetic syndromes. The treating plastic surgeon may monitor how well the affected hand or foot works.
Adults may also undergo surgery to enhance the appearance and not functionality of their hands or feet. Other body parts may be hampered by syndromic polydactyly. The outlook will depend on the underlying syndrome because it may also involve cognitive disability and impaired development.