Poland syndrome

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.

Last updated on 05-01-20

How might Poland syndrome be diagnosed?

The severity of Poland syndrome differs from person to person. As a result, when it is mild, it may not be 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.

Last updated on 05-01-20

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 condition).

Last updated on 05-01-20

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. It has been estimated that the incidence of the condition is about 1 in 30,000. 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.

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 on 05-01-20

How might Poland syndrome be 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.

Last updated on 05-01-20

Name: Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane, Suite 104
Orlando, FL, 32814, United States
Phone: +1-407-895-0802 Email: staff@birthdefects.org Url: https://www.birthdefects.org/

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The RareGuru disease database is regularly updated using data generously provided by GARD, the United States Genetic and Rare Disease Information Center.

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