Poland Syndrome (Poland Anomaly, Poland syndactyly)
What is it?
Poland Syndrome is a physical deformity affected by genes, causing the underdevelopment or
absence of chest muscle on either side of the chest, and a webbed hand on that same side.
How is it inherited?
Poland Syndrome is a rare genetic abnormality that is seldom inherited and genetically random.
There have been occurrences of genetic inheritance within families, but that is extremely rare. The exact
form of transmission is unclear, since families that have never had the disease have given birth to
offspring with Poland Anomaly.
The syndrome seems to be a sex linked trait, seeing as one time out of three, a female will be
diagnosed with Poland disease, so it tends to be aimed towards males the most. Also, the syndrome is
twice as likely to affect the right side then the left, although the reasons for this odd event are unknown.
Although it’s not clear whether or not this is a genetic mutation, there are a few speculations as
to how this disease comes about. Somewhere around the sixth week of fetal development, one of the
fetus’ main arteries becomes blocked off, either by an early growth of the ribcage or something else,
reducing the flow of blood to that area of the chest, and stunning or altering the growth of said area.
A six week old fetus—earliest time that Poland’s can be diagnosed.
Is it on a specific gene/karyotype?
It is unknown what specific gene or karyotype that Poland anomaly is located on. Although
scientists do believe that this is a genetic disorder, it is not yet linked to a specific gene.
Is this disease life-threatening? Is there a treatment for this disorder?
To start, this disease can be diagnosed as early as a fetus, or as old as adolescence. The severity
of the disorder also determines how early it can be diagnosed. Sometimes, especially in females, the
syndrome will not be noticed until the person reaches puberty, where the absence of a pectoral muscle
is more noticeable.
Other than the slight physical deformity, this disease is not life-threatening, nor does it induce
any kind of mental retardation on the affected subject.
Arguably the best treatment for this disorder is a reconstructive surgery of the chest. In this
surgery, the muscles from the other side of the chest or other parts of the body are borrowed from and
implanted into the affected area of the patient. This procedure in boys can be done much earlier than
that in women. Girls must wait until their breasts have been fully developed, so that the surgeons may
avoid an accidental asymmetrical transplant, emphasizing the deformity even more than before. Also,
for those with the disorder that have disfigured nipples and areola [brown ring around nipple], a
therapeutic tattooing treatment can be applied to normalize the abnormal side.
Before and after photos of a woman diagnosed with Poland’s who
underwent treatment.
Another example, this one showcasing a male
who underwent the surgery to replace the nonexistent muscle on his right side. Notice how the nipple
and areola on the right are asymmetrical to those on the left.
Support Groups?
There are plenty of support groups out there, probably the best being the same name as the
disease, www.polands-syndrome.com. Here, you can find links describing statistics about the disease,
informational websites, support groups within the website, links to famous people with the disease, and
several other great websites.
Interesting Facts:
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Sources:
One in every 10,000-100,000 babies are born with Poland syndrome each year. In the United
States, a baby with Poland anomaly is born every 1-10 days, and around the world, every 12
hours to 5 days.
This disease is recognized by the National Institute of Health Office of Rare Disease as being a
rare disease. A disease is determined “rare” if less than 200,000 people in the United States are
cumulatively affected by it each year.
www.polands-syndrome.com
www.genome.gov