What are the other Names for this Condition? (Also known as/Synonyms)
- Absence of Pectoralis Muscle (due to Poland Syndrome)
- Poland’s Anomaly
- Unilateral Defect of Pectoralis Major and Syndactyly of Hand (due to Poland Syndrome)
What is Poland Syndrome? (Definition/Background Information)
Poland Syndrome is a rare, congenital defect that is characterized by:
- Absence or abnormality of the pectoralis major muscle, a major chest muscle that normally attaches to the upper arm on one side and the breastbone (or sternum) on the other side
- A combination of abnormalities that occur in the hand termed as symbrachydactyly, which includes
- Brachydactyly or short fingers
- Vestigial fingers (small and under developed fingers)
- Syndactyly (where some of the fingers are fused or joined together)
- Shortened radius and ulna: The bones of the forearm (termed as radius and ulna) may be very short in certain individuals with Poland Syndrome
- Both the pectoralis muscle and hand abnormalities occur on the same side of the body
- The right side of the body is often affected in this syndrome than the left side (unilateral condition). Abnormality affecting both sides may also be witnessed in very rare cases (bilateral condition)
In short, hand deformity and underdevelopment of the chest, on the same side of the body are the main manifestations of Poland Syndrome.
Other abnormalities that may be present include:
- Absence or under development of other muscles of the chest wall, sides and shoulder
- Other rib cage abnormalities may also be present, which include:
- Shortened ribs
- The absence of subcutaneous fat from under the skin, which make the ribs prominent and noticeable
- Breast and nipple abnormalities may also be observed
- Underarm hairs are very meagre in quantity and can be abnormally positioned
- Abnormalities of the internal organs, such as lungs and kidneys, may also be observed in individuals with severe Poland Syndrome. Also, the heart may be located abnormally on the right side of the chest, a condition termed as dextrocardia
The cause of Poland Syndrome is unknown. The treatment provided is mostly through reconstructive surgeries that are intended to rectify the bone and muscle defects. The prognosis is very good with appropriate surgical intervention and physical therapy.
Who gets Poland Syndrome? (Age and Sex Distribution)
- Poland Syndrome is a congenital condition that may affect any individual. For some unknown reason, the right side of the body is affected twice as often as the left side
- Boys are affected three times more than the girls
- No geographic, racial, or ethnic predominance is observed
What are the Risk Factors for Poland Syndrome? (Predisposing Factors)
Currently, no risk factors have been identified for Poland Syndrome.
It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.
Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.
What are the Causes of Poland Syndrome? (Etiology)
The exact cause of Poland Syndrome is not known. It is currently classified as “a non-specific developmental field defect”, which occurs in the sixth week of fetal development.
- Poland Syndrome is generally thought of as a sporadic event (not inherited), because it occurs in individuals who have no family history of the syndrome
- Rarely, it is found to occur in families. In such cases, it occurs in an autosomal dominant pattern
Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly functioning gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.
What are the Signs and Symptoms of Poland Syndrome?
The signs and symptoms exhibited by individuals with Poland Syndrome can be classified into the following groups:
- Very frequent signs
- Frequent signs
- Occasional signs
Very frequent signs of Poland Syndrome include:
- Absence of pectoral muscles (chest muscle that extends from the armpit across the chest to the sternum up to the collar bone)
- Abnormalities in the gastrointestinal tract (the food pipe), liver, and biliary tract
- Simian crease on the affected side: A single line that runs across the palm of the hand. Normally, one will have three creases on their palms
- Brachydactyly or short fingers
- Abnormal ribs
- Dextrocardia: The heart may be located abnormally on the right side of the chest
- Asymmetrical upper limbs, the upper limbs do not align properly
- Defects found in the diaphragm or diaphragmatic hernia: It is a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity
- Absence or abnormality of the ulna and radius (which are the bones of the forearm)
- Syndactyly or webbing, fusion or joining of the fingers together
- Rhizomelic micromelia: The limb segments are relatively shorter and very close to each other
- Oligodactyly or missing fingers
Frequent signs of Poland Syndrome include:
- Nipples are either absent or under developed
- Abnormalities found in the scapula or the shoulder bone
Rare and occasional signs of Poland Syndrome include:
- Agenesis or hypoplasia of kidneys: Kidney agenesis means failure of the kidneys to develop properly during embryonic growth; kidney hypoplasia indicates an underdevelopment of the kidneys
- Encephalocele/Exencephaly: A rare neural tube defect in which the brain membranes protrude through openings in the skull
- Microcephaly (abnormally small head)
- Preaxial polydactyly : It is a medical condition characterized by the presence of an extra thumb
- Abnormalities of the vertebral segmentation (the backbone)
How is Poland Syndrome Diagnosed?
The diagnosis of Poland syndrome includes:
- A thorough physical examination, correlated with a complete medical history (including family and social history) that may include an examination of:
- Stage of breast development
- Status of the latissimus dorsi muscle (an important muscle of the back)
- Lymph nodes and complete blood counts should be examined for leukemia and non-Hodgkin lymphoma
- X-rays of the affected regions (chest, shoulder, hand): X-rays can help reveal the abnormalities present in the hands, forearms, ribs, and shoulders
- CT and MRI scans of the affected body regions: These specialized imaging tests can help reveal the cross-sectional images of the particular structures. This can help in determining the extent to which muscles have been affected
Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.
What are the possible Complications of Poland Syndrome?
The complications due to Poland Syndrome may include:
- Untreated diaphragmatic hernia can lead to respiratory distress syndrome or respiratory failure
- Dextrocardia can lead to heart complications
- Kidney agenesis and ureteric abnormalities can cause kidney abnormalities
- The chances of developing lymphoma, leukemia, and other hematopoietic malignancies are increased in individuals with Poland Syndrome
How is Poland Syndrome Treated?
- The most widely acceptable treatment for Poland Syndrome is reconstructive surgery, which includes:
- The existing chest muscles and muscles taken from other parts of the body are used in rebuilding the chest
- For males, reconstructive surgery can be done as early as age 12
- For females, reconstructive surgery is held back till the breast development is complete. Thus, generally the purpose of reconstructive surgery in females is to correct the differences between the two breasts
- Therapeutic tattooing helps in correcting the differences in the areola and nipple. This treatment can help provide an artificial appearance of a nipple and areola
- Patients with minor chest asymmetry can be treated with the help of a permanent implant expander. The most popularly used breast implant expander is the Becker implant, which has silicone gel and is filled with saline
- Finger deformities can be corrected through surgical reconstruction and separation of fused or webbed fingers
- Surgical repair of diaphragmatic hernia
After surgical intervention, physical therapies are employed to improve the child’s condition and to take care of muscle weakness and other disabilities associated with Poland Syndrome.
How can Poland Syndrome be Prevented?
Currently, there are no definitive methods available to prevent Poland Syndrome. A majority of cases are sporadic and hence, no preventive measures are available. A few cases have been reported as being inherited as an autosomal dominant trait. Hence, for such cases:
- Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
- If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
- Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders
What is the Prognosis of Poland Syndrome? (Outcomes/Resolutions)
- The prognosis for Poland Syndrome is excellent in children who undergo surgical reconstruction of the chest wall
- Early diagnosis and proper treatment is associated with very good prognosis
Additional and Relevant Useful Information for Poland Syndrome:
Poland Syndrome is named after British anatomist Sir Alfred Poland who lived in the 19th century. A few notable personalities who had Poland Syndrome include:
- Mario Padovani (famous musician)
- Jeremy Beadle (British TV presenter)
- Jerome Thomas (Olympic boxer)
- Bruce Molder (PGA tour golfer)
- Fernando Alonso (Formula 1 world champion)