INVESTIGATORY PROJECT

ON

THE STUDY OF POLYDACTYLY

NAME: P. PREETHI ARADHANA

STD: XII B
ROLL NO.: 12224
 ACKNOWLEDGEMENT

First and foremost I thank lord almighty and secondly our

principal, Rev. Bro. Robert for providing us this platform of
education. I would like to express my special thanks to my
teacher Mrs. A Jenitta Hepzibah who gave me this wonderful
opportunity to accomplish this project on the topic ‘ STUDY
ON POLYDACTYLY’ , which enlightened me in so many
different topics and skills.im also deeply thankful to my
parents and friends who helped me through the course of this
project and enabled me to complete it within the time frame.
 INDEX
Aim 1

Symptoms of polydactyly 2

Causes of polydactyly 2

Diagnosis 3

Treatment 4

Long term outlook 5

 ‘The British Phenotype’- 6

a case study
Conclusion 9
AIM:

This review provides an overview of the complex

genetic mechanism underlie polydactyly and might help
in genetic counseling and quick molecular diagnosis.

Polydactyly is the medical term for having extra fingers

or toes (digits). You might also see it referred to as
hyperdactyly. It’s one of the most common birth
defects that affects babies’ hands and feet.
Polydactyly that causes extra fingers to form on your
child’s hand is a form of congenital hand difference.

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 What are the symptoms of polydactyly?
Your child’s doctor will know by sight that your baby’s hand
has an extra finger.
The extra fingers are usually small and abnormally developed
and can be made up of:
 skin and soft tissue
 skin, soft tissue, and bone but no joint
 skin, soft tissue, and bone with a joint
The extra fingers can be located:
 on the small finger side — most common
 on the thumb side, also called thumb duplication — less
common
 in the middle of the hand — least common

What causes polydactyly?

As a baby develops in their mother’s womb, the hand
first forms in the shape of a paddle and later divides
into separate fingers. If this process continues a bit
longer than usual, a single finger divides again, creating
an extra finger.
For many children with polydactyly, the extra division
seems to happen with no clear cause. For other children,
it may be a genetic (inherited) trait. Polydactyly may
also occur as part of a medical syndrome.

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How is polydactyly diagnosed?
Polydactyly can be seen by ultrasound during
pregnancy and by eye at birth. Once your child is
born, x-rays will help their doctor see the underlying
structure of your baby’s fingers and determine a course
of treatment.

The types of polydactyly include:

 Preaxial (radial/tibial) polydactyly: An extra

thumb or big toe.
 Central polydactyly: An extra finger or toe near
the middle digits — between the index, middle or
ring fingers or any of the toes that aren’t the big or
pinkie toe.
 Postaxial (ulnar/fibular) polydactyly: An extra
pinkie finger or toe

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How is polydactyly treated?

The most common treatment for polydactyly is

removing the extra finger. This typically occurs when a
child is between 1 and 2 years old. At this age, children
are young enough not to miss developmental
milestones, such as grasping for objects, but old enough
to better tolerate anesthesia and surgery.

The method used to remove an extra finger depends on

the location and size of the finger:

 Removing an extra little finger can be fairly

simple if the extra finger is connected to the rest of
the hand by only a small skin bridge. The extra
digit is clipped or tied right where it joins the hand,
and it will then shrivel and fall off over a period of
about two weeks, similar to how the umbilical cord
is clipped at birth.
 If the extra finger is more fully developed, your
child may benefit from a surgery to remove the
extra finger. This is typically done when a child is
between 1 and 2 years old. This surgery can range
from a simple procedure to remove the extra little
finger to more complex procedures (for thumbs and

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 central fingers). Sometimes more than one surgery
is needed.

After surgery, your child may wear a bulky bandage or

cast for a few weeks and have physical or occupational
therapy to help with scarring, stiffness, and swelling.
They may have follow-up visits to check on how their
hand is healing and moving.

Major ways of treatment :

1. Surgical ligature - provider will tie a tight string or

band around the base of the extra finger that cuts off its
blood supply. A week or two later, the extra finger will
fall off.
2. In-office excision
Your provider might remove your baby’s extra digit
during an office visit. This is called an in-office
excision. Your provider will numb the skin around your
child’s extra digit with an injection.
3. Polydactyly surgery
If your baby’s polydactyly is on their feet — or if
they’re not a good candidate for surgical ligature or in-
office excision — they’ll need their extra digit
surgically removed.

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What is the long-term outlook for polydactyly?
Most patients treated for polydactyly recover full hand
function and improved appearance of their hand.
Your child may need to be followed for several months
or years to:
 ensure that their hand is healing well
 check that they are regaining full function of their
hand
 determine whether additional surgery would further
improve the function or appearance of the hand as
your child grows
 Polydactyly itself might have little or no effect on
your child’s body. Having an extra finger or toe
isn’t dangerous. The extra digits themselves won’t
cause your baby any symptoms or discomfort.

 If your baby is diagnosed with a genetic disorder or

other birth irregularities at the same time as
polydactyly, those other conditions might have a
lifelong impact on their growth and development.

 Around 1 in 1,000 babies born each year has some

form of polydactyly.
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THE BRITISH PHENOTYPE

Ten probands were originally ascertained and appeared

to be members of the same family. According to family
history, 28 out of 81 subjects were affected. Twenty-
five family members were personally examined. Fifteen
of them were affected, five were unaffected relatives,
and five were healthy partners of affected subjects who
had affected children. The pattern of inheritance was
autosomal dominant with complete penetrance and
variable expression. All affected family members had
hexadactyly of all four extremities, with opposable or
non-opposable thumbs.
In the “opposable thumb phenotype”, a fully developed
thumb is placed in a normal “thumb” plane with an
angle of 90° to the digital rays. The thenar muscles are
well developed and opposition function is not
significantly impaired. On xray, the thumb shows either
a biphalangeal or triphalangeal appearance, but without
noticeable increase in length. The supernumerary digits

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are always localised between the thumb and index
finger, partly rotated towards the thumb plane.

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CONCLUSION:
Advances in human genetics have revealed several
new isolated and syndromic polydactyly types that
enhanced our knowledge and understanding of
several genes responsible for genetic limbs
pathogenesis. The genetics of polydactyly is a highly
complex and not only restricted to Mendelian
inheritance. Mechanisms such as genetic and allelic
heterogeneity, epigenetic factors, associated genes,
the role of enhancers/suppressors, and different
type of environmental and developmental factors
plays a very important role. Numerous detailed
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genetic, epidemiological, molecular, and
embryological studies of polydactyly had observed
substantial variations in the phenotype, prevalence,
transmission, expressivity, and suggesting a high
etiological of phenotypic heterogeneity . In addition,
several other factors including variable expressivity,
incomplete penetrance, difference in genetic
background, environmental influence and epigenetic
phenomena probably played roles in developing
differential phenotypes in human.

BIBLIOGRAPHY

 my.clevelandclinic.org

 www.jhandsurg.org

 www.ncbi.nlm.nih.gov ( National Library of

Medicine)

 www.sciencedirect.com

 www.childrenshospital.org

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