Poland syndrome is a condition that causes a lack of muscle development on one side of the body. It’s primarily characterized by the lack of chest wall muscles, as well as webbed fingers on the same side of the body.
Poland syndrome is named after British surgeon Sir Alfred Poland, who presented the first account of the condition. Poland syndrome is also called Poland anomaly or Poland sequence.
The condition was first recognized in the 19th century and remains relatively rare. According to National Human Genome Research Institute (NHGRI), 1 in 10,000 to 100,000 people have Poland syndrome. While the condition is congenital, or present at birth, many people don’t recognize it until they hit puberty and its symptoms become more obvious. This fact can somewhat skew the exact statistics. The U.S. National Library of Medicine estimates that 1 in 20,000 babies are born with Poland syndrome.
People who have Poland syndrome have an asymmetrical body frame. Their chest muscle lacks development on one side of their body, which can create a seemingly lopsided position. All signs of Poland syndrome occur on one single side of the body only.
Signs of the condition may include:
- a visible lack of chest muscle in the pectoral area
- a chest that appears concave
- an underdeveloped or missing nipple on the affected side
- missing armpit hair
- a seemingly “missing” shoulder
- an elevated shoulder blade
- an underdeveloped ribcage
- shorter fingers on one hand, always on the same side as the affected part of the chest muscle
- fingers that are webbed, or stuck together
- a shorter forearm on one side
- underdeveloped breasts in women
The exact cause of Poland syndrome is not known. However, researchers think that the syndrome develops in a fetus around the six-week mark. At this stage of gestation, the fetus is dependent on blood flow for development. Poland syndrome could present itself when there is an interruption in blood flow to tissues around the chest and ribcage.
Researchers aren’t sure whether or not someone can inherit Poland syndrome. There aren’t any clear genetic markers for the condition. It’s possible — but rare — to have more than one person in the same family with the condition. Even then, each person usually has varying levels of severity.
The timing of a Poland syndrome diagnosis depends on how severe the symptoms are. Even though the condition is present at birth, you may not have or notice any symptoms until adolescence. Severe cases tend to be more obvious at birth. Underdeveloped fingers may be noticed first.
During a physical exam, your doctor will look for signs of Poland syndrome. They will also ask you when you noticed the symptoms.
Poland syndrome is diagnosed through the physical exam and imaging tests, such as CT scans, MRIs, and X-rays. CT scans and MRIs are especially helpful in telling your doctor which specific muscle groups are affected. X-rays, on the other hand, provide an inside look into which bones are affected. X-rays are particularly useful for your:
- shoulder blades
Reconstructive (plastic) surgery is the most viable treatment option for Poland syndrome. It involves using existing chest wall muscles (or other muscles throughout the body as needed) to fill in missing portions. Surgery can also be used for grafting ribs to move them in the right spot. Your doctor may recommend surgery to correct various bones throughout the affected side, including those in your fingers and hands.
Still, surgery may not be advised at the time of diagnosis. This is because you might still be developing, and surgery could make any asymmetry worse. Women may need to wait until their breast development is done. Some people may opt for plastic surgery to create a breast mound.
Sometimes, therapeutic tattooing is used to compensate for a missing nipple.
The cost of surgery depends on a variety of factors, including the area of your body being reconstructed, the severity of the deformity, and your insurance coverage. Any related costs, such as anesthesia, are billed separately.
If you undergo any form of surgery, you’ll likely need physical therapy as an after-treatment. A physical therapist can help you learn how to use new or existing muscles to perform everyday tasks. Sessions can cost around $100 each, depending on the provider and your insurance coverage.
It’s important to treat Poland syndrome to help prevent disability. Over time, the condition can significantly impair your movement on one side of your body. For example, you might experience difficulties picking up or reaching for items. Poland syndrome can also limit your range of motion.
Sometimes a condition called Sprengel deformity can develop. This causes a lump at the base of your neck from an elevated shoulder blade.
Rarely, Poland syndrome can cause spinal health complications. It may also lead to kidney problems. Severe cases may lead to a misplacement of the heart on the right side of your chest.
Poland syndrome can take a psychological toll, particularly because it’s often diagnosed in teenagers, when they’re also coping with other changes. You may consider talking to a counselor.
When diagnosed, Poland syndrome is treatable. Early diagnosis and treatment is essential for preventing long-term disability. Still, the severity of the condition varies from person to person, with doctors being able to better predict the outlook for mild cases.