Definition

What is Poland syndrome?

First described by the 19th-century British anatomist Sir Alfred Poland, Poland syndrome is a unique pattern of one-sided malformations that are present at birth (congenital malformations). Poland syndrome is noted for the underdevelopment or absence of the chest (pectoralis) muscles on one side of the body as well as webbing of the fingers (cutaneous syndactyly) on the hand of the same side (ipsilateral side) of the body.

How common is Poland syndrome?

According to reports in the medical literature, Poland syndrome appears to be three times as common in males as females. Estimates of its incidence have ranged from approximately one in 10,000 to one in 100,000 individuals. (Incidence refers to the number of new cases in a particular period.)

Poland syndrome affects the right side of the body in approximately 75 percent of cases. In 1998, investigators reported what was thought to be the first known case in which both sides of the body have been affected (bilateral). Researchers described a young girl with bilateral absence of pectoralis muscle, symmetric chest wall deformity, and bilateral hand involvement.

Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Poland syndrome?

Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. The common symptoms of Poland syndrome are:

  • The chest muscles are absent.
  • 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.
  • The fingers are abnormally short and slightly webbed.
  • 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.

Poland syndrome has been associated with other syndromes, including Moebius syndrome (congenital bilateral facial paralysis with inability to abduct the eyes) and Klippel-Feil syndrome. Also, some blood malignancies, including leukemia and non-Hodgkin lymphoma, have been described in patients with Poland syndrome.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you or your loved one has any signs or symptoms listed above or you have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Poland syndrome?

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

  • 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.

Risk factors

What increases my risk for Poland syndrome?

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 condition).

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Poland syndrome 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.

During the examination, the stage of breast development and of the latissimus dorsi muscle (one of the largest muscle of the back) should be noted. Other exams may be needed to rule out other problems such as Moebius syndrome.

How is Poland syndrome treated?

Management of Poland syndrome may include surgical correction of the chest wall deformities. Surgical options are available to improve appearance in both males and females. In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall. 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.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Poland syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 5, 2018 | Last Modified: February 5, 2018

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