Poland syndrome: definition, symptoms and risk factors


Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. The extent and severity of the abnormalities vary among affected individuals.



It was first named in 1962 by Patrick Clarkson, a New Zealand-born British plastic surgeon working at Guy’s Hospital and Queen Mary’s Hospital, London. He noticed that three of his patients had both a hand deformity and an underdeveloped breast on the same side. He discussed this with his colleague at Guy’s Hospital, Dr Philip Evans, who agreed that the syndrome was “not widely appreciated”. Clarkson found a reference to a similar deformity published by Alfred Poland, over a hundred years earlier in Guy’s Hospital reports, in 1841. Clarkson was able to find the hand specimen dissected by Poland, which was still held in the hospital pathology museum.

Poland had dissected a convict known as George Elt, who was said to be unable to draw his hand across his chest. Poland noted the chest wall deformity, and this was illustrated in his article; the hand was also dissected and preserved for posterity in Guy’s Hospital museum where it remains today. It cannot be truly said that Poland described this syndrome because he only described one isolated case. Clarkson published his series of three cases and named the syndrome after Poland in his article.


According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. The incidence is estimated to range from one in 7,000 to one in 100,000 live births. The incidences of the affected males are twice as much as that of females. In cases when the severity is mild, the condition is not diagnosed until puberty. Due to the same reasons the condition is often underreported and misdiagnosed.

Risk factors

Currently no risk factors have been identified for Poland Syndrome.

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.


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.

Symptoms of 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

Complications of poland syndrome

  • 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.

Diagnosis and tests

The diagnosis of Poland Syndrome is usually made at birth based upon characteristic physical findings, a thorough clinical evaluation, and a variety of specialized tests. Such tests may include advanced imaging techniques, such as a CT scan that can determine the extent to which the muscles may be affected. During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images particular organs or structures within the body. X-ray studies may be used to help identify and characterize specific abnormalities in the hands, forearms, ribs, and/or shoulder blades.

Treatment and medications

  • 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.

Prevention of poland syndrome

Currently there are no definitive methods available to prevent Poland Syndrome. A majority of cases are sporadic and hence, no preventive measures are available. A few cases have been reported as being inherited as an autosomal dominant trait. Hence, for such cases:

  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders

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