Poland Syndrome – Causes, Symptoms & Treatment

Poland Syndrome

Poland syndrome is a complex of inhibition malformations caused by disturbances during embryonic development. The main symptom is the unilateral lack of attachment of parts of the large pectoral muscle. The different breasts can be adjusted to each other in a cosmetic correction.

What is Poland Syndrome?

The disease group of congenital malformations includes some malformation syndromes that affect both the muscular and the skeletal system. One such complex of symptoms is Poland syndrome , which was first described in the mid-19th century. The British surgeon Alfred Poland, who gave the syndrome his name, is considered to be the first to describe it.

The symptom complex consists of various malformations that form a complex system. Typically, patients are completely missing a pectoral muscle. This key symptom is associated with malformations of the mammary gland and the skeletal system. Poland syndrome is one of the so-called inhibition malformations.

Its incidence is estimated to be between 1 in 10,000 people and 1 in 100,000 people. Men are more likely to be affected by the syndrome than women. The malformations are also more often on the right side of the body than the left. The age of onset of symptoms is neonatal age.


Some research on Poland syndrome suggests a genetic cause. Although most cases of the syndrome appear to have occurred sporadically, in individual cases familial clusters with autosomal dominant inheritance have also been observed. So far, the etiology of the disease has not been conclusively clarified. As a disease from the field of inhibition malformations, the syndrome probably has its origins in embryonic development.

Symptoms, Ailments & Signs

In the case of inhibition malformations, an inhibition occurs during the embryonic development phase when the upper ray sprouts. This inhibition can vary in severity. The severity determines the clinical picture of the disease. Instead of the upper steel, the lower beam can also be affected by an escapement. However, this phenomenon is rarer than upper ray inhibition.

Malformations of the internal organs often occur after inhibition of the lower ray. The primary cause of inhibition malformations and with them the actual cause of Poland syndrome is not yet known. Some papers assume a vascular cause and blame an interrupted blood supply to the subclavian artery for the inhibition malformations.

Diagnosis & disease progression

The symptom complex of Poland syndrome is characterized by malformations in the area of ​​the mammary gland and the large pectoral muscle. The chest area on the affected side thus appears significantly smaller than the chest on the opposite side. Sometimes the patient is even completely missing the breast on one side. The nipple is present in almost all cases.

In most patients, however, the nipple on the affected side is raised, has a smaller areola and is both smaller and darker than that of the opposite side. The affected side of the breast contains a lot of connective tissue and little fatty tissue. This histological association gives it a solid appearance. The pectoralis major can be divided into three parts, with Poland syndrome patients usually missing the lower parts.

The upper parts of the muscle are much less often not applied. In addition, some patients lack the small pectoral muscle. The other symptoms depend on the individual case. Concomitant symptoms are conceivable, for example, malformations of the fingers, so often in the form of syndactyly . The non-contact of the fingers can also occur. For example, the ring finger and little finger are often not applied. Patients’ arms are sometimes affected by muscle weakness .

In addition, there may be malformations of the thorax, in particular chest reductions. The heart function can also be disturbed on the left side. In some cases, the malformations also affect the organ system and include renal malformations or renal agenesis .


Because of Poland Syndrome, those affected suffer from inhibition. In addition to this, it is not uncommon for other malformations and deformities to occur on the patient’s body. The internal organs can also be affected by the malformations, so that the life expectancy of the patient may be limited.

The diagnosis of this disease is usually relatively quick and easy, so that direct treatment can be initiated immediately. Those affected suffer from muscle weakness, so that it is not easy for the patient to carry out sports or normal activities. Furthermore, it is not uncommon for the fingers and feet to develop malformations that can make everyday life considerably more difficult for those affected.

The patient’s quality of life is significantly reduced and restricted due to Poland Syndrome. In some cases, some fingers are also missing completely. Unfortunately, a causal treatment of Poland syndrome is not possible. Those affected are therefore dependent on various therapies or implants throughout their lives. The person affected may also be dependent on the help of other people in their everyday life if the deformities make it significantly more difficult.

When should you go to the doctor?

Poland syndrome can be diagnosed in the embryonic stage or immediately after birth on the basis of malformations in the area of ​​the pectoral muscles and mammary glands. Depending on the severity of the malformations, drug therapy, surgical treatment and other measures are necessary. The pediatrician can use the symptom picture to draw up a treatment plan. The child’s parents should stick closely to this plan and call in the doctor in the event of side effects. If side effects or interactions occur after taking the prescribed medication, medical advice is also required.

In addition to the pediatrician, a physiotherapist must be involved in the treatment. This can be accompanied by a conversation with a therapist. Parents can also call in an outpatient care service or domestic help. In this way, the treatment of the child can be optimally designed. Since Poland syndrome usually does not result in any further diseases, only regular follow-up care and routine examinations have to be carried out after the initial therapy. The pediatrician should be consulted closely.

Treatment & Therapy

Poland syndrome can only be treated symptomatically, since the cause has not yet been definitely clarified. In cases with a low severity, treatment is usually not absolutely necessary. The missing pectoral muscle parts can usually be well compensated by other muscles.

If this compensation does not take place automatically, the patients can undergo physiotherapy and occupational therapy and learn how to compensate through targeted training. Most patients with Poland Syndrome undergo surgical treatment at some point in their lives, primarily because of the cosmetic impairment of bilateral breasts and malformations such as syndactyly.

The breasts can be adjusted in size to each other by means of a breast augmentation on the affected side. As part of this breast augmentation, the opposite side can also be reduced. In some cases, tightening and reduction of the areola are integrated into the operation. A silicone implant is usually used in patients with Poland syndrome to enlarge the affected side .

Custom-made inlays are also possible. The most natural option is to use the body’s own skin-fat flaps. Since the breasts can be adjusted in size, but not structurally or in terms of shape, some doctors recommend amputation of the opposite breast and subsequent implant placement. In this way, the two sides of the breast look the same with lasting success and the cosmetic demands of the patients are ideally satisfied.

However, since a double operation is extremely tiring for the body and not absolutely necessary from a health point of view, patients with Poland syndrome should think twice about this procedure in advance. If there are malformations of the thorax and the patient’s cardiac function is impaired as a result, surgical expansion of the thorax is indicated for health reasons.


Preventive measures for Poland syndrome do not yet exist. In order to determine preventive steps, the cause of the malformations must first be unequivocally clarified.


In most cases, those affected with Poland syndrome have only a few or even no special options or measures for aftercare. Since this disease is a genetic disease that cannot be completely cured. As a rule, a genetic examination and counseling should also be carried out if you want to have children again, so that the syndrome cannot appear again in the offspring.

In most cases, this disease can be alleviated relatively well with the measures of physiotherapy or physiotherapy. There are no particular complications. The affected person can repeat many of the exercises at home and thus possibly speed up the treatment.

In many cases, however, surgery is necessary to completely relieve the symptoms of Poland syndrome. After such a procedure, those affected should definitely rest and take care of the body. Efforts and physical activities should be avoided in order not to unnecessarily burden the body. Regular check-ups and examinations by a doctor are also very important. Poland syndrome does not usually reduce the life expectancy of the person affected.

You can do that yourself

Poland Syndrome is a severe malformation that is primarily an aesthetic blemish for those affected. Self-help focuses on avoiding mental problems that can arise due to external changes with the help of a therapist or treating existing mental illnesses. This can also be achieved through trauma therapy or talking to other victims.

People who suffer from Poland Syndrome often also have physical limitations. For example, lifting loads can cause problems because the remaining pectoral muscle does not have the necessary strength. Physiotherapy , yoga and other practices can be used to balance this imbalance . Which steps make sense in detail depends on the severity of the malformation. Affected people should talk to their family doctor so that the necessary steps can be taken.

Parents who notice a malformation in their child should arrange for surgical measures at an early stage. Today, the missing pectoral muscle can be replaced with an implant. After an operation, it is important to support the recovery with a healthy diet, rest and compliance with the doctor’s instructions.

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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.