Poland syndrome is a health condition in which the muscles present on one side of the body are either missing or underdeveloped since birth. This results in abnormal formation of shoulder, chest, arm and hand. The extent of severity and deformations varies among the individuals suffering from Poland syndrome.
What is Poland Syndrome?
The chest is composed of two kinds of muscles which are called pectoralis minor and pectoralis major. The pectoralis minor is a triangular muscle which covers the upper chest wall, while pectoralis major is a large muscle with fan like structure which covers the front region the chest and almost the entire upper chest.
In case of Poland syndrome, the affected individual does not possess pectoralis minor as well as the breast bone portion of pectoralis major, in one side of the body. Though, this condition is rare but associated complications can be severe in case of certain abnormalities.
Characteristic Features of Poland Syndrome
The features of Poland syndrome may vary from individual to individual depending on the severity of the condition. Thus, the features can be categorized into three categories namely common, moderate and rare. The following are: –
- Common Features of Poland Syndrome: These are features that are significant to Poland syndrome-
- The chest wall muscles are absent in one side of the body.
- Absence of armpit hairs in the affected side.
- Underdeveloped or absence of breast from the affected side.
- Chest appears to be concave on the affected side.
- Shortened or underdeveloped ribs.
- Missing ribs.
- Moderate Features of Poland Syndrome: These are mild abnormalities which are not easily noticeable.
- Brachydactylic condition which marks the presence of abnormally short fingers.
- Syndactyly is another condition in which some fingers may be fused together.
- Rare Features of Poland Syndrome: These features are of rare occurrences among the affected individuals having abnormal location of vital organs like lungs, kidney or heart.
- Dextrocardia: The heart is located on the right side of the body.
In rare cases both sides of the body may be affected by Poland syndrome.
Epidemiology of Poland Syndrome
Poland syndrome is known to affect one in twenty thousand to one in a million live births. The incidences of the affected males are twice as much as that of females. In cases when the severity is mild, the condition is not diagnosed until puberty. Due to the same reasons the condition is often underreported and misdiagnosed.
Prognosis of Poland Syndrome
Poland syndrome is known to have an abrupt occurrence rather than familial inheritance. In rare cases familial inheritance has also been observed. This condition in certain extreme cases, leads to severe unilateral deformation which may require reconstruction surgery. In cases where the severity is mild the condition can even go unnoticed or unidentified until the individual hits puberty. The condition doesn’t cause any major problem in the mild cases, and thus treatment is not required except for cosmetic purpose.
Causes of Poland Syndrome
The causes behind the Poland Syndrome are unknown. It is speculated that there are certain changes that take place during the sixth week of gestation which may result in development of such conditions. The common speculation is:-
- The subclavian arteries present under the collarbone might not be able to receive complete blood supply in the embryo. This may result in growth of ribs under insufficient supply of blood leading to their underdevelopment.
- The other speculation is that the subclavian arteries in one side of the body may be malformed resulting in hindered supply of the blood to the ribcage, thereby causing Poland syndrome.
Diagnosis of Poland Syndrome
The diagnosis of Poland Syndrome depends upon the severity of the condition. It may be diagnosed as early as the new-born period and as late as puberty. The diagnosis of Poland syndrome is primarily based on clinical evaluation and the associated imaging tests like CT Scan, MRI using which the three dimensional and cross sectional images. On the other hand, the X-Ray diagnostic technique can be used to identify the abnormality in chest, ribs, shoulder, and hand and for arm.
Treatment & Management of Poland Syndrome
The Treatment for Poland syndrome is primarily focused on the reconstruction of the abnormal side of the body. The treatment mainly involves surgical procedures with little amount of physiotherapy.
- Bioengineered Cartilage Implant for Poland Syndrome: When the ribs of the chest walls are underdeveloped or missing then a bioengineered cartilage is implanted in the chest to give it a full and normal appearance.
- Reconstruction Surgery to Manage Poland Syndrome: It is the most sought after medical procedure in which plastic surgery is performed to rebuild the chest wall and properly graft the ribs into appropriate places. This surgery can be done in males at an age of thirteen years or above. In case of females the surgery is postponed until breast development of the healthier side is completed, to ensure that no physical differences come up post the surgery of the affected side.
- Management of Poland Syndrome with Therapeutic Tattooing: It is done in the cases when nipple and areolar regions are missing or underdeveloped. This technique is thus used to create the appearance similar to that.
- Physiotherapy for Poland Syndrome: It is done to improve the mobility of the forearm or hand in some cases where the motion is limited.
Poland syndrome is a genetic disorder which occurs due to unknown reasons and is characterized by absence or underdevelopment of the chest muscles and webbed fingers in one side of the body. Poland Syndrome has an erratic occurrence and usually affects the right side of the body. Poland Syndrome is found to be prominent in males compared to females. Poland Syndrome leads to malformations of chest, arm, hand and breast, the appearance which can be prominent as well as mild. In severe cases, affected individuals require surgery for the correction of the deformations.