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Genetic and Rare Diseases Information Center (GARD)

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Poland syndrome


Other Names for this Disease
  • Poland anomaly
  • Poland sequence
  • Poland syndactyly
  • Poland's syndrome
  • Unilateral defect of pectoralis muscle and syndactyly of the hand
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Your Question

What is Poland syndrome? Does this condition cause physiologic functional impairment?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is Poland syndrome?

Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to be right sided and is more common in boys than girls.[1]
Last updated: 6/25/2011

What are the signs and symptoms of Poland syndrome?

Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of breast tissue, while others may be missing all or part of the chest muscle and underlying ribs.[2] Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition:[1]

  • Absence of some of the chest muscles.
  • The end of the main chest muscle, where it attaches to the breastbone, is usually missing.
  • The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues.
  • Abnormally short and slightly webbed fingers.
  • Often, the armpit (axillary) hair is missing.
  • The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer.
  • The upper rib cage can be underdeveloped or missing. Sometimes the shoulder blade or bones of the arm are also involved.
  • Rarely, spine or kidney problems are present.
Last updated: 6/25/2011

Does Poland syndrome cause physiologic functional impairment?

Poland syndrome may cause functional disability. The impairment is mild in most cases.[3] Because symptoms and symptom severity can vary from person to person, we recommend that you speak with your daughter's healthcare provider to learn more about how Poland syndrome might affect her breast development and function.
Last updated: 6/20/2013

What causes Poland syndrome?

The cause of Poland syndrome is unknown. Most evidence supports the idea that something abnormal happens during the sixth week of fetal development. This event most likely involves the vascular (blood and lymph) system. Speculations include:[1]

  • An interruption of the embryonic blood supply of the arteries that lie under the collarbone (subclavian arteries). This could be caused by the forward growth of the ribs reducing the flow of blood.
  • A malformation of the subclavian arteries causes a reduced amount of blood delivered to the developing tissues on one side of the body.
Last updated: 6/25/2011

Is Poland syndrome inherited?

Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.

In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).[1]

Last updated: 6/25/2011

How many people have Poland syndrome?

Poland syndrome is thought to be under-reported and under-diagnosed, making the exact incidence of the condition difficult to determine. Some men remain undiagnosed unless they seek treatment for associated hand abnormalities when present; other individuals may not realize they have features of the condition until puberty.[4] It has been estimated that the incidence of the condition is about 1 in 30,000.[4][5] However, it has also been reported that the incidence ranges from 1 in 7,000 to 1 in 100,000, depending on the severity of the condition and the patient population.[5]

A current search of the available literature does not yield reliable statistics specific to the incidence or prevalence of Poland syndrome in the United States. If the estimated incidence of 1 in 30,000 were applied to the U.S. population size, over 10,000 people in the U.S. would have Poland syndrome. However, to our knowledge, data confirming these statistics in the U.S. are not currently available.
Last updated: 9/10/2012

When is Poland syndrome typically first diagnosed?

The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.[1]

 

Last updated: 11/20/2009

How might Poland syndrome be treated?

Management of Poland syndrome may include surgical correction of the chest wall deformities.[6] Surgical options are available to improve appearance in both males and females.[7] In females, full breast reconstruction is performed at the time of full normal breast development and can be planned in conjunction with or following reconstruction of the chest wall.[2] In males reconstruction of the chest may not be necessary if there is no underlying chest wall deformity. The optimal surgical approach will vary from patient to patient. Surgical options should be discussed with a surgeon familiar with reconstructive surgery in people with Poland syndrome.
Last updated: 6/25/2011

References
  • Learning About Poland Anomaly. National Human Genome Research Institute. June 28, 2010; http://www.genome.gov/14514230. Accessed 9/30/2010.
  • Breast Problems. The American Pediatric Surgical Association. http://tinyurl.com/y8lhy4o. Accessed 9/30/2010.
  • Wilhelmi BJ. Breast, Poland syndrome. eMedicine. 2009; http://emedicine.medscape.com/article/1273664-overview. Accessed 9/30/2010.
  • Bradon J Wilhelmi. Poland Syndrome. Medscape Reference. February 1, 2012; http://emedicine.medscape.com/article/1273664-overview. Accessed 9/10/2012.
  • Fokin AA. Thoracic defects: cleft sternum and Poland syndrome. Thorac Surg Clin. November 2010; 20(4):575-582.
  • Greydanus DE, Matytsina L, Gains M. Breast disorders in children and adolescents. Prim Care Clin Office Pract. 2006;
  • Borschel GH et al.,. Individualized implant-based reconstruction of Poland syndrome breast and soft tissue defomities. Annals of Plastic Surgery. 2007;