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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

I recently gave birth to a beautiful baby girl. She was born without her right pectoral muscle and has been diagnosed with Poland syndrome. Upon researching this condition, I have learned that her right breast probably won't develop. While this may not be of concern right now, it will someday be important. Could you please provide me with information about this condition? I am interested in learning more about the causes, symptoms and treatment.

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 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

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

How might Poland syndrome be treated?

Management of Poland syndrome may include surgical correction of the chest wall deformities.[4] Surgical options are available to improve appearance in both males and females.[5] 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.
  • 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;