- Poland syndrome is a rare, congenital condition characterized by a sunken or underdeveloped chest and hand abnormalities.
- Researchers believe that Poland syndrome is caused by a lack of blood flow during embryonic development, which stops the chest, arm and hand from growing.
- The gold standard of Poland syndrome treatment is plastic surgery, and there’s a variety of options available to correct issues caused by the syndrome.
- In many cases, insurance will cover plastic surgery to correct congenital defects, but this really comes down to your insurance provider and plan.
What is Poland Syndrome?
Poland syndrome is a rare birth defect marked by the underdevelopment, or altogether absence, of the chest muscle (pectoralis muscle) on one side of the body. Poland syndrome actually has nothing to do with the Northern European nation; it was named as such because the British surgeon Sir Alfred Poland had the first known case of the syndrome, which he documented in the 1840s.
The medical community didn’t pay much attention to the syndrome until the 1960s, when a plastic surgeon named Patrick Clarkson noticed that several of his patients had an underdeveloped breast and a hand abnormality on the same side while working at Guy’s Hospital in London (the same hospital where Sir Alfred Poland worked). Clarkson did some digging and found Poland’s early reports alongside a preserved, dissected hand from Poland’s research, which is still held in the hospital’s pathology museum today.
Symptoms of Poland Syndrome
Otherwise known as the Poland sequence or Poland anomaly, the most common characteristics of Poland syndrome are chest wall deformity coupled with the absence of the breastbone portion of the chest. People with this syndrome are usually missing a portion of the major chest muscle, (the pectoralis major muscle) with affected individuals usually missing a large portion, from the upper arm to the sternum. Due to the lack of pectoral muscles, the chest may appear concave, lopsided or simply flat on one side. The failure of this muscle to develop is called aplasia.
On the same side where the birth defect is present, Poland syndrome sufferers may have various abnormalities on the hand, shoulder, chest and arm, and often have webbed fingers (syndactyly). Besides webbed fingers, many other hand abnormalities are common among those with Poland syndrome, especially an underdeveloped hand with short fingers (brachydactyly) or a combination of hand deformities (symbrachydactyly).
There are other ways that Poland syndrome manifests itself in the upper body. Rib cage abnormalities are not uncommon, and many people with the syndrome have shortened ribs or the absence of the upper ribs. This lack of development can even cause abnormalities in the shoulder blade and arm bones. Some people may also have some breast and nipple abnormalities, and muscles in the chest wall, side and shoulder may be underdeveloped or missing.
Causes of Poland Syndrome
According to Genetics Home Reference, the cause of Poland syndrome is officially unknown, but researchers believe that it could be caused by a disruption of blood flow in utero. Supporting research indicates that, in these cases, around the sixth week of embryonic development, blood vessels stop bolstering the embryonic tissues that support the growth of the chest wall and hand on each side. This, in turn, causes these body parts to stop developing.
Specifically, during the sixth week of fetal development, researchers believe that forward growth of the ribs interrupts the supply of blood in the artery beneath the collarbone (subclavian artery). The condition could also occur if the subclavian arteries restrict the supply of blood to developing tissue due to malformation. Poland syndrome is treated as a congenital malformation, and more specifically a “nonspecific developmental field defect,” because the cause is not officially known.
In some cases, Poland syndrome may be caused by a genetic change — meaning that it could be passed on from you to your children through genetic inheritance — but current research shows that instances of the syndrome are largely sporadic, which debunks the theory that it is related to an inheritable gene. On the other hand, very rare familial cases of Poland syndrome, where an autosomal dominant pattern is present, are reported to have caused the disorder.
Diagnosing Poland Syndrome
So, what about diagnosis? Oftentimes, patients don’t realize that they have the syndrome until puberty, when asymmetrical growth of the upper extremity makes it more obvious or when a lack of armpit hair is present. Healthcare professionals can identify the syndrome through clinical evaluation and testing. If you suspect that you suffer from Poland syndrome, your doctor will likely require a CT scan, an X-ray or an MRI to determine precisely how the muscles, breast tissue, and bones are affected.
Treating Poland Syndrome
Various plastic surgery options are available to help correct or improve characteristics of the syndrome, including the sunken chest and hand abnormalities.
Chest Wall Reconstruction
With this procedure, a doctor is able to use the patient’s own tissue to fill out a sunken or underdeveloped chest muscle. In other words, they’ll remove tissue from an area of excess (often the thigh or tummy) and then use it to build out the chest. The latest innovation in chest wall reconstruction is the use of a perforator flap — DIEP flap, SIEA flap or TDAP flap — which helps to restore the volume and contour of the chest without the need for an implant. Oftentimes, a doctor will recommend flap surgery if previous implants were ineffective.
Breast Reconstruction Surgery
Doctors generally use single-stage breast implant reconstruction to correct poor breast development on one side. During breast reconstruction, doctors will often use an implant expander with a remote port, which allows them to adjust the size of the implant until it matches the size of the other breast.
Specialists may recommend a different procedure for teenagers with Poland syndrome who have dramatically asymmetrical breasts. To accommodate for partial development at the time of correction, a subcutaneous tissue expander — which is inflated at various intervals to match the size of the other breast — may be used.
For men who suffer from a lack of chest volume, a pectoral implant is a good choice. These implants are usually made of silicone gel and are custom-ordered and made after a surgeon takes detailed measurements, ensuring that your new pectoral is symmetrical to the existing one. In patients who have an existing nipple on the properly developed side, a plastic surgeon might recommend adding a nipple altering procedure so that the nipples are at the same height. The same technique may be used during single-stage breast reconstruction for women.
Latissimus Dorsi Flap Reconstruction
This procedure is a form of chest wall reconstruction that uses muscles from the latissimus dorsi muscle (back muscle), which is the largest in the human body. During this procedure, a plastic surgeon will make an incision on the back and harvest muscle from the region. Next, he or she will place the muscle into the chest alongside a tissue expander. Many doctors prefer this method because it offers reduced scarring. However, removing a portion of the back muscle can come with some consequences, including the weakening of the trunk.
Clearly, there are a wide variety of ways to correct a sunken or underdeveloped chest. But what about the hand abnormalities presented by Poland syndrome? As you can imagine, correcting hand deformities is a major challenge for plastic surgeons, but there are some reliable options on the market.
Generally speaking, surgeries are classified by the deformity, so a different technique might be used to treat symbrachydactyly versus polydactyly, for example. Webbed fingers can be corrected surgically with zigzag-shaped incisions, while other abnormalities may require the transfer of bone from the feet to the hands.
Poland Syndrome Surgery Cost
The good news is that in many states, reconstructive surgery to correct congenital problems is covered by health insurance. Of course, it’s important that you talk to your insurance provider, as coverage will be determined by your specific plan. Make sure to start with a board-certified plastic surgeon for the best advice. Which procedure he or she recommends relies largely on your specific deformities. Any form of surgery will require rehab with a physical therapist to get your muscles back to full strength. Physical therapy sessions may not be covered by insurance and can cost $100-200 a session.
Complications of Poland Syndrome
If Poland syndrome is left untreated you will begin to lose mobility; most likely one side of your body. Daily tasks such as reaching for items or tying your shoe may become more difficult. Psychologically it will also take a toll, so it is important to speak to a licensed professional – especially teenagers and young adults.
According to the National Human Genome Research Institute, when Poland syndrome is left untreated it can trigger other, seemingly unrelated health problems. Those with the syndrome may experience spine or kidney problems, and may have underdeveloped tissue or skin (hypoplasia) as well as a thin, subcutaneous fat layer. Most people with Poland syndrome also report that they’re missing armpit hair on their affected side. Some other patients experience Poland syndrome alongside other birth defects, including Sprengel deformity and Klippel-Feil syndrome.
Should I get plastic surgery?
Before undergoing any form of cosmetic surgery — whether to correct a birth defect or to address other cosmetic concerns — it’s important to ask yourself how the issue in question affects your day-to-day life. If you feel that the effects of Poland syndrome have compromised your self-esteem, hindered your physical performance or just generally made you feel self-conscious, it may be time to discuss your options with a board-certified plastic surgeon.