Definition

Poland syndrome is a rare genetic condition characterized by the underdevelopment of muscles on one side of the body, including the chest, shoulder, fingers, and hand. The condition was first recognized and described in 1841 by the English physician Sir Alfred Poland.

Individuals with this disorder typically have abnormalities in one of the chest wall’s large muscles, the pectoralis major. This can lead to a sunken or asymmetrical appearance in the chest area, and abnormalities of the breast or nipple may also be present.

Along with the chest muscle abnormalities, people with Poland syndrome often experience issues with the hand on the affected side. These issues are usually marked by shortened fingers (a condition known as brachydactyly) and fusion of several fingers (syndactyly). When both of these conditions occur together, it is referred to as symbrachydactyly.

Causes

The exact cause of Poland syndrome remains uncertain. Researchers believe that the condition arises from impaired blood flow during fetal development, particularly in the sixth week of pregnancy. This disrupted blood flow affects the vessels that would typically supply the tissue responsible for developing the chest wall and arms.

The variations in the severity and affected areas of Poland syndrome lead to the diverse range of symptoms experienced by individuals with this condition.

Most cases of Poland syndrome are sporadic, meaning they occur without any identifiable pattern and may appear even in families without a history of the disease.

Although rare, there are instances where Poland syndrome is inherited. It is believed to follow an autosomal dominant inheritance pattern, meaning a person only needs one mutated gene from a parent to inherit the condition. However, the precise genetic factors responsible for the disorder have yet to be fully understood.

Risk Factor

Several risk factors can increase the chances of developing Poland syndrome, including:

• Family history
  In rare instances, Poland syndrome is inherited in an autosomal dominant manner within families.

• Gender
  Males are more likely to develop Poland syndrome, with the condition occurring about twice as often in men as in women.

• Use of certain medications
  Research has shown that the use of misoprostol during pregnancy is linked to a higher incidence of Poland syndrome.

• Smoking and cocaine use
  Studies suggest that smoking and cocaine use during pregnancy may contribute to the development of Poland syndrome.

In many cases, Poland syndrome arises without any obvious risk factors, occurring spontaneously.

Symptoms

The symptoms of Poland syndrome can appear at birth or develop later in childhood or puberty. The specific body parts affected vary, and individuals may experience a range of different signs.

Some of the common symptoms and signs associated with Poland syndrome include:

• Uneven or sunken chest.

• Shortened fingers on one hand, always on the same side as the chest wall abnormality.

• Fused fingers (syndactyly).

• Missing or underdeveloped nipple on one side.

• Nipple placement that is higher on the affected side compared to the unaffected side.

• Unusual breast development, especially in women.

• Abnormalities in the ribs or sternum.

• Elevated shoulder blade on the affected side.

• Absence of underarm hair on the affected side.

• Shorter arm on the affected side.

The condition is generally identified by the absence or underdevelopment of chest muscles and the presence of short, fused fingers (symbrachydactyly) on one side of the body.

Most cases of Poland syndrome affect the right side of the body, though it can occur on the left side or even both sides, though the latter is extremely rare. There is still some debate within the medical community about whether these rare cases are indeed Poland syndrome or a related condition.

Diagnosis

Poland syndrome can sometimes be diagnosed at birth, but in other cases, it may not be detected until later in childhood or puberty. Severe cases are typically identified at birth, while mild forms may not show hand abnormalities immediately.

In some instances, individuals with Poland syndrome may not seek medical attention until puberty, often due to the cosmetic appearance of the chest wall abnormalities becoming more noticeable during this period.

The diagnosis of Poland syndrome is usually made clinically, based on the patient’s symptoms and physical signs. The doctor will discuss the patient's family medical history and any relevant symptoms with the family.

Following this, a physical examination is performed to evaluate any noticeable abnormalities. The doctor will examine the chest by visual inspection and palpation of the anterior chest wall to assess for deformities.

Additionally, a heart and lung examination may be conducted to detect potential issues with these organs. The doctor will also assess the hands and feet to check for any abnormalities commonly found in people with Poland syndrome.

To confirm the diagnosis, the doctor may recommend additional tests. Radiological exams, such as X-rays, CT scans, and MRIs, can help confirm the presence of Poland syndrome.

X-rays are used to identify bone abnormalities in the hands, ribs, shoulder blades, and forearms. CT scans and MRIs are useful for detecting muscle deformities in the chest wall, helping to confirm the diagnosis.

Management

Reconstructive surgery is the most common treatment for Poland syndrome. This procedure aims to repair the deformed chest by using existing chest muscles. In some cases, muscles from other parts of the body may be used to assist with the repair.

While surgery is often performed for cosmetic reasons, it may be necessary in some cases to address breathing difficulties caused by abnormalities in the sternum or ribs.

Plastic surgery options, such as Botox injections and breast implants, are available to improve the appearance of individuals with Poland syndrome, particularly for adolescents who may face emotional challenges due to physical appearance.

In some instances, surgery may be required to correct bone abnormalities on the affected side of the body, such as those involving the fingers and hands. Surgery for fused fingers (syndactyly) is typically performed when the child is between the ages of 1 and 2 years old.

Treatment for Poland syndrome is tailored to the specific symptoms experienced by the individual. If you or your child are affected by this condition, it is important to consult a surgeon to determine the most appropriate treatment options.

Prevention

The exact cause of Poland syndrome remains unknown. However, there are several ways to reduce the risk of this condition and other congenital abnormalities:

• Maintaining maternal health during pregnancy
  It's crucial to maintain a healthy weight and take necessary vitamins and supplements during pregnancy to reduce the risk of congenital disorders.

• Regular antenatal care (ANC) checkups
  Routine ultrasound exams during pregnancy can help doctors detect congenital abnormalities early, allowing for timely intervention and management.

• Avoiding exposure to hazardous substances
  Reducing exposure to harmful substances like cigarette smoke, heavy metals, and chemicals is important to lower the risk of congenital defects.

When to See a Doctor?

It’s essential to consult a doctor if you notice any signs or abnormalities associated with Poland syndrome in your baby or child, such as an uneven chest wall or short, fused fingers.

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