What is Poland Syndrome?

Poland syndrome is a rare birth condition that affects between one in 10,000 and one in 100,000 children. Also known as Poland’s anomaly, the features of this defect usually vary from person to person. The most common characteristics, however, are aplasia, or absence, of the pectoralis muscle on one side of the body and webbing of the fingers on the same side. Other signs that are usually associated with Poland syndrome are hypoplasia of the nipple on the affected side, missing hair in the armpit, an abnormal gastro-intestinal tract, missing fingers, absent or abnormal ulna and radius and abnormal ribs. When occurring on the left side of the body, dextrocardia can also be a feature of Poland syndrome; this means that the heart is actually located on the right side of the body.

Poland syndrome is still shrouded in a bit of mystery. It is believed that males are three times more likely to be affected than females and that the right side is usually the most commonly affected side of the body. However, this information may not be completely correct because many cases remain undiagnosed. In fact, it is very common nowadays for a woman to seek out the help of a physician to correct breast asymmetry; on the contrary, many men do not give the deserved attention to such a problem. These men are more likely to see a doctor only if the anomaly involves the hand. Because of this, establishing the incidence of Poland syndrome can be a challenging task.

The causes of Poland syndrome, furthermore, remain unknown. The majority of the cases that have been observed occurred in random patterns, with no apparent connection to similar cases in a family or to environmental conditions. However, in very few cases the disease has been observed in parents and children of the same family as well as in cousins. Because of this, it has been hypothesized that Poland syndrome could be inherited as an autosomal dominant disease. However, due to the very low number of observed familial cases, Poland syndrome is still regarded as a sporadic condition with an incredibly low risk of transmission from parent to child.

The origin of Poland syndrome appears to be in an interruption of blood supply in the subclavian artery, which supposedly occurs during the sixth week of development of the embryo. The lack of blood to one side of the body leads to stunted or abnormal development. More research needs to be done, however, to confirm this idea or to support new ideas.

The treatment that is usually offered to patients suffering from Poland syndrome is breast and muscle reconstruction. However, in female patients, this procedure depends on whether or not the breast is already fully developed. In young female patients, permanent implants are usually not considered until the breast has completed its development. In the mean time, temporary hypoplastic breasts are used to match the size of the normal breast and to help stretch out the skin of the underdeveloped side. The situation is different in male patients, where permanent breast reconstruction is already possible at age 13. Patients who also display cutaneous syndactyly undergo surgery to separate the fingers that are joined together, in cases where this is possible.