What Is Poland Syndrome?

The rare condition affects only one side of the body

Poland Syndrome
Filip em/Wikimedia Commons/Creative Commons

Poland syndrome is a rare birth defect that causes missing or underdeveloped muscles on one side of the body. The condition affects the chest, shoulder, arm, and hand. The right side of the body is affected twice as often as the left. Poland syndrome is thought to affect around only one in 20,000 people. However, it is difficult to determine how many individuals are affected by Poland syndrome, since mild cases may go unnoticed or be misdiagnosed.

A Disease With No Known Causes

Poland syndrome may be associated with other conditions such as Moebius syndrome or Klippel-Feil syndrome. Researchers aren’t sure what causes Poland disease. The syndrome is not inherited and rarely runs in families. There may be a genetic component, but no affected genes have been found.

Poland Syndrome Symptoms

It’s not uncommon for people with Poland syndrome to be missing part of their pectoralis major, one of the major chest muscles. The missing areas of muscle may cause the chest to appear concave. Other symptoms of Poland syndrome may include:

  • Underdevelopment or absence of breast or nipple on the affected side
  • Patchy absence of hair under the arm on the affected side
  • Underdeveloped or missing ribs
  • Underdeveloped arm, hand, and fingers
  • Abnormally short, webbed fingers
  • Small, elevated shoulder bone (Sprengel deformity)
  • Short fingers
  • Short forearm bones (radius and ulna)
  • Heart is located on the opposite side of the body (dextrocardia) 
  • Lung or kidney abnormalities 

In extremely rare cases, both hands may be affected. However, researchers aren't sure if this symptom is related to Poland syndrome or indicative or another syndrome entirely.

How Poland Syndrome Is Diagnosed

Mild cases of Poland syndrome may not be diagnosed until an individual is older.

Puberty may make differences in the chest muscles more noticeable, leading to a diagnosis. A computerized tomography (CT) scan can help identify which muscles are involved. In more severe cases, especially those which include hand and arm deformities, Poland syndrome may be identified at birth or shortly after.

If you have Poland syndrome, you may also be examined for other syndromes such as Moebius or Klippel-Feil syndromes. Men are twice as likely to be affected.

Surgical Treatment Options

In many cases, reconstruction of the affected chest wall muscles, breast, and nipple can be accomplished by a plastic surgeon. A surgeon may use your existing chest muscles to rebuild your chest. If there is not enough chest muscle available for rebuilding, then muscles can be taken from other parts of the body. In males, chest reconstruction can be done as early as 13 years old. In females, however, surgery is generally postponed until breast development is complete. Plastic surgeons may also be able to improve finger deformities (such as webbed fingers) through reconstructive surgery.

National Organization for Rare Disorders. Poland Syndrome.
Wilhelmi, B. J. (2002). Poland syndrome breast. eMedicine, accessed at http://www.emedicine.com/plastic/topic132.htmUS National Library of Medicine, Genetics Home Reference. (November 2015)

Continue Reading