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Polydactyly Alan Koval

Inheritance Treatment

Treatment for polydactyly is simple,


requiring only minor correctional surgery
Extra Digits
Polydactyly appears to be an autosomal dominant
trait1, meaning that the genes causing the problem to remove the extra digit1.
are not on the sex chromosomes, and that the
In Type B
presence of one polydactyly allele is enough to
polydactyly, where
cause the disease.
the extra digit is
This means that the affected child received his only partially
polydactyly from his parents – meaning that one (or formed1, surgery is
both) of them had polydactyly as well. usually completed
right after birth.
The probability of a child inheriting polydactyly
from his parents is entirely dependent on his
parents’ genotypes.
In Type A polydactyly,
where the extra digit is
If one of the parents is fully formed with bone1,
heterozygous for surgery is usually
polydactyly (Bb) and the Preaxial polydactyly in an infant
completed when the child
other does not have is 1 year of age.
polydactyly, then 50% of
their offspring will have Contents:
polydactyly.
 Polydactyly symptoms
Likewise, if both parents are heterozygous for
polydactyly, then the chances of a child with Bibliography
 Polydactyly at a cellular
polydactyly rise to 75%. If any parent is homozygous 1. Fergus, Kathleen A. "Polydactyly." The Gale Encyclopedia of Genetic level
Disorders. Ed. Laurie J. Fundukian. 3rd ed. Vol. 2. Detroit: Gale, 2010. 1234-
for polydactyly, then all their offspring will have 1237. Gale Virtual Reference Library. Web. 15 Mar. 2015.
polydactyly.  Polydactyly at a genetic
2. Kaneshiro, Neil K. "Polydactyly: MedlinePlus Medical Encyclopedia." U.S
National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 16 level
Mar. 2015.
However, not all forms of polydactyly occur as an
3. Mooney, Eric K. "Hand Embryology Gross Morphologic Overview of Upper
 Polydactyly inheritance
autosomal dominant trait. These other forms’
Limb Development." Hand Embryology. Ed. Joseph A. Molnar. Medscape, 18
inheritance patterns are not well understood4 and Nov. 2013. Web. 16 Mar. 2015.  Polydactyly treatment
could be caused by mutation or other cause unrelated
to genetics. 4. "Polydactyly Study: General Information." Polydactyly Study: General
Information. National Human Genome Research Institute, 2 Apr. 2012. Web. 16
Mar. 2015.

5. Zguricas, Julia, Henk Heus, and Estela Morales-Peralta. "Clinical and


Genetic Studies on 12 Preaxial Polydactyly Families and Refinement of the
Localisation of the Gene Responsible to a 1.9 CM Region on Chromosome
7q36." Journal of Medical Genetics 36.1 (1998): n. pag. Web. 16 Mar. 2015.
Symptoms At the Cellular Level At the Genetic Level

Polydactyly is the occurrence of extra Polydactyly occurs because of a glitch in At the heart of polydactyly lies a fundamental
fingers or toes1,2,4 at birth. Polydactyly DNA. However, a direct link to a specific change to the structure of a person’s DNA. This
is separated into three groups: preaxial, (mutated or deficient) protein has not been change causes a shift in the production of a
signal5 protein as a fetus or the “design for the
postaxial and central1,5. located4. This is most likely due to the fact that
body”, so to speak.
the expression of polydactyly occurs only in
fetal stages – in the womb. This is where However the specific location of the
An example of preaxial malformation of the hands/feet occurs5. troublesome gene has not been established
polydactyly – when the definitively. According to one study, preaxial
extra digit is on the side Research is still being done to learn more polydactyly could be traced to chromosome 7,
of the hand that has the about the complicated patterns of development specifically q365. However, only 11 out of the
thumb or the side of the in fetuses, and without a specific chromosome 12 being studied fit into this category, leaving
foot that has the big toe. or gene to pair with polydactyly (see “At the room for improvement.
Genetic Level”), finding a specific deficient
Postaxial polydactyly (which accounts for 80%
protein seems unlikely. of cases1) has been found to be an autosomal
dominant trait1, meaning that the gene that
causes polydactyly is not on the X or Y
An example of postaxial polydactyly
chromosome, and that a polydactyly allele
– when the extra digit is on the side
overrides a non-polydactyly allele.
of the pinky toe or little finger.
Central polydactyly is not as well understood as
the previous two types.

An example of Polydactyly, however, does occur with the


central presence of other diseases1, and it is important
polydactyly – In this way, a patient’s cells are affected that an infant be checked for those if the Chromosome 7
when the extra genetically (by their mutated/wrong DNA), but presence of polydactyly is seen. Some examples
digit is located in the genetic variation from the norm is not of this are Trisomy 13 Syndrome, Meckel-
the middle of the Gruber syndrome, Bardet-Biedl syndrome (on
manifested in the manufacture of proteins or
hand or foot. chromosome 11), and Ellis-van Creveld
other structures.
syndrome1.
In general terms, however, the process can be
It is possible (and likely) that a number of
described. Development of individual fingers
different genes contribute to polydactyly
If polydactyly is not accompanied by another occurs by day 46 of pregnancy3. During this independently of each other, meaning a search
disorder (see "At the Genetic Level"), it is highly time a signaler5 (a protein) fails to limit the for a specific chromosome is pointless.
unlikely to alter his/her quality of life because of the number of digits in the hand or foot. From then
simple treatment and the lack of severity in the on, development continues as normal albeit
symptoms1. with an extra digit.