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Poland Syndrome is a rare disorder that causes an absence of chest muscles on one side of the body, including the pectoralis minor and the sternal portion of the pectoralis major. It affects about 1 in 10,000 to 100,000 people, with 1 in 20,000 newborns estimated to have the condition. While the exact cause of Poland Syndrome is unknown, researchers believe it may be due to a disruption in blood flow during embryonic development, specifically around the six-week mark when the fetus relies solely on blood flow for growth. Although it is generally not inherited, rare cases suggest a possible genetic link, with some families showing an autosomal dominant pattern of inheritance.
| Characteristics | Values |
|---|---|
| Definition | Poland syndrome is a disorder in which affected individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities that can affect the chest, shoulder, arm, and hand. |
| Occurrence | Poland syndrome occurs in about 1 in 10,000 to 100,000 people, or 1 in 20,000 newborns, according to different estimates. |
| Sex Predominance | Poland syndrome affects males twice as often as females. |
| Inheritance | Most cases of Poland syndrome are sporadic and non-inherited. However, rare cases may be passed down in families through autosomal dominant inheritance, but no specific genes have been identified. |
| Diagnosis | Poland syndrome is typically diagnosed at birth or later during puberty when physical asymmetries become more apparent. Diagnosis is based on physical characteristics and imaging techniques like CT scans, MRIs, and X-rays. |
| Treatment | Treatment options include reconstructive surgery to fill in missing chest wall muscles or graft ribs, and physical therapy to improve movement and function. |
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What You'll Learn
Poland syndrome
The cause of Poland syndrome is unknown, but researchers believe it may be due to a disruption of blood flow during embryonic development, specifically around the sixth week, affecting the subclavian and vertebral arteries that supply blood to the chest wall and hand. This disruption is thought to impact the apical ectodermal ridge, an embryonic structure that plays a crucial role in early limb development. While most cases of Poland syndrome occur sporadically without a family history, rare familial patterns have been reported, suggesting a possible genetic component. However, no specific genes have been identified.
Diagnosis of Poland syndrome is typically made at birth based on physical characteristics, and imaging techniques like CT scans can reveal the extent of muscle involvement. The severity of the condition varies, and mild cases without hand involvement may go undiagnosed until puberty when asymmetry in chest development becomes noticeable. Treatment depends on the severity and may include surgical correction or implants to improve physical appearance and emotional well-being.
Several notable individuals have been affected by Poland syndrome, including Olympic boxer Jérôme Thomas, PGA golfer Bryce Molder, actor Ted Danson, Formula One World Champion Fernando Alonso, and Australian Paralympian Mathew Silcocks. Their experiences showcase the variable nature of the condition and how it can impact different individuals.
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Pectoralis major muscle
The pectoralis major is a thick, fan-shaped or triangular convergent muscle of the human chest. It is the largest and most superficial muscle in the chest area, forming the anterior wall of the axilla. The pectoralis major is divided into three parts: the clavicular part, the sternocostal part, and the abdominal part. All three parts converge laterally and insert onto the greater tubercle of the humerus. The clavicular part is close to the deltoid muscle and contributes to flexion, horizontal adduction, and inward rotation of the humerus. The sternocostal part is antagonistic to the clavicular part, contributing to the downward and forward movement of the arm and inward rotation during adduction. The sternal fibres can also contribute to extension but not beyond the anatomical position.
The pectoralis major has four primary actions responsible for the movement of the shoulder joint. Firstly, it flexes the humerus, as in throwing a ball underhand or lifting a child. Secondly, it adducts the humerus, as when flapping the arms. Thirdly, it rotates the humerus medially, as occurs when arm-wrestling. Fourthly, the pectoralis major is responsible for keeping the arm attached to the trunk of the body. The pectoralis major also assists in inspiration when the diaphragm and intercostal muscles are insufficient for proper breathing.
The pectoralis major is susceptible to rare tears and tendon ruptures, typically affecting healthy individuals in high-impact contact sports such as powerlifting and weight-lifting. This injury may result in pain, weakness, and disability, characterised by sudden and acute pain in the chest wall and shoulder area, bruising, and loss of muscle strength. Pectoralis major tendon rupture is becoming more prevalent due to the increased emphasis on healthy lifestyles and is commonly seen in weight lifters during bench presses.
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Pectoralis minor muscle
The pectoralis minor muscle is one of the most superficial muscles on the anterior aspect of the chest or thoracic wall. It is located deep to the pectoralis major muscle, which almost completely covers it. The pectoralis minor is clinically important and used as a surgical landmark due to the structures that lie beneath it. The nerves and blood supply to the upper limb run deep to the pectoralis minor muscle, including the posterior, lateral, and medial cords of the brachial plexus. The primary nerve supply to the pectoralis minor muscle comes from the medial pectoral nerve (C8, T1), a minor branch of the brachial plexus that originates in the cervical spinal cord.
The pectoralis minor muscle plays a role in respiration, assisting in deep inspiration by elevating the ribs when the pectoral girdle is fixed or elevated. It also aids in protraction of the scapula, moving it laterally and anteriorly against the rib cage, which is important for reaching the arm forward. Additionally, the pectoralis minor helps to bring the scapula forward when the ribs are immobilised.
The pectoralis minor muscle creates a passage between the ribs for the transit of the brachial plexus, subclavian artery, and vein. Variations in the origin of the muscle are common, and it can arise from the anterior third to fifth ribs near the corresponding costal cartilages. The apex of the triangle inserts into the medial border and upper surface of the coracoid process of the scapula.
Trigger points in the pectoralis minor muscle can cause referred pain that starts in the front of the shoulder and extends down the arm, into the hand, and even the fingers. A tense pectoralis minor can entrap nerves in the armpit region, resulting in pain, numbness, and tingling sensations in the arm and hand.
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Pectoral muscle absence
While the presence and size of pectoral muscles can be influenced by genetics, their absence is often a result of a specific genetic disorder. Poland Syndrome is a birth defect characterised by the complete or partial absence of the pectoralis muscle on one side of the body. This rare disorder affects about 1 in 20,000 newborns and is over twice as common in males compared to females.
Poland Syndrome is typically diagnosed at birth based on physical characteristics, including chest abnormalities and underdeveloped hands with fused or abnormally short fingers. In some mild cases, the condition may not be evident until puberty when the asymmetry between the two sides of the chest becomes noticeable. While the cause of Poland Syndrome is unknown, researchers suggest it may be due to a disruption of blood flow during embryonic development.
The syndrome is mostly sporadic and non-inherited, with no specific genes identified as contributing to the disorder. However, in rare instances, it can be passed down in families through autosomal dominant inheritance, meaning that a change in a single copy of a gene is sufficient to cause the disorder. Treatment options for Poland Syndrome include surgical correction and the use of custom implants designed through computer-aided design to improve chest symmetry.
Several notable individuals have been affected by Poland Syndrome, including Olympic boxer Jérôme Thomas, PGA golfer Bryce Molder, actor Ted Danson, Formula One World Champion Fernando Alonso, cricketer Lewis Hatchett, and Paralympian Mathew Silcocks. Their conditions have varied in severity, with some undergoing corrective surgeries during childhood to improve hand function and aesthetics.
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Genetic inheritance
While there is no clear evidence that the size of the pectoral muscles is directly linked to genetics, there is a condition called Poland Syndrome that affects the development of the pectoral muscles and has been found to be linked to genetics in rare cases. Poland Syndrome is a birth defect characterised by an underdeveloped chest muscle and short webbed fingers on one side of the body. It is named after British surgeon Sir Alfred Poland, who first presented the condition. It is estimated that Poland Syndrome occurs in 1 in 10,000 to 100,000 people, with some sources estimating a higher occurrence of 1 in 20,000 newborns. The condition is more prevalent in males, who are affected twice as often as females.
Poland Syndrome is usually diagnosed at birth or during puberty, when lopsided growth becomes apparent. It is associated with the absence of the sternal portion of the pectoralis major, as well as the absence of the pectoralis minor. The pectoralis major is a large, fan-like muscle that covers most of the upper, front part of the chest, while the pectoralis minor is a thin, triangular muscle beneath it. In addition to the absence of these muscles, Poland Syndrome can also cause underdevelopment or absence of one nipple, patchy absence of hair under the arm, and in females, underdevelopment or absence of one breast and underlying tissues. There may also be associated skeletal abnormalities, such as underdevelopment or absence of upper ribs, elevation of the shoulder blade, and shortening of the arm.
While the exact cause of Poland Syndrome is unknown, researchers believe that it may be due to a disruption of blood flow during embryonic development, specifically around the six-week mark when the fetus is highly dependent on blood flow for growth. In rare cases, it is believed that Poland Syndrome can be passed down in families through genetic changes. However, no specific genes have been identified, and most cases of Poland Syndrome are sporadic, occurring in people with no family history of the disorder. In the rare instances where Poland Syndrome is inherited, it appears to be passed on in an autosomal dominant pattern, meaning that only one copy of an altered gene in each cell is needed to cause the disorder.
Although Poland Syndrome can cause physical abnormalities, those affected generally have normal movement and health. Treatment options, such as reconstructive surgery and physical therapy, are available to address any cosmetic concerns or potential disabilities that may arise over time.
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Frequently asked questions
Poland syndrome is a rare disorder where individuals are born with missing or underdeveloped muscles on one side of the body, resulting in abnormalities in the chest, shoulder, arm, and hand. It affects about 1 in 20,000 newborns and is twice as common in males than in females.
Poland syndrome typically results in the absence of the pectoralis minor and the sternal portion of the pectoralis major. The pectoralis minor is a thin, triangular muscle beneath the pectoralis major, which is a large, fan-like muscle that covers most of the upper front part of the chest.
The exact cause of Poland syndrome is unknown. However, researchers believe it may be due to a disruption in blood flow during embryonic development, specifically around the six-week mark when the fetus is highly dependent on blood flow for growth.
While rare cases of Poland syndrome are thought to have a genetic component that can be passed down in families, no specific genes have been identified. Most cases are sporadic and non-inherited, and the condition generally occurs in people with no family history of the disorder.
