Poland Syndrome

Poland syndrome
Synonyms	Poland's syndrome, Poland's syndactyly, Poland sequence, Poland's anomaly
Digital mammogram (Mediolateral view) showing absence of the pectoralis major muscle and architectural distortion on the left side and normal right breast
Classification and external resources
Specialty	medical genetics
ICD-10	Q79.8
ICD-9-CM	756.89
OMIM	173800
DiseasesDB	31679
eMedicine	plastic/132
MeSH	D011045
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Poland syndrome, named after British surgeon Alfred Poland, is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body, and usually also webbing of the fingers (cutaneous syndactyly) of the hand on the same side (the ipsilateral hand). In most affected individuals, the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone (sternum) on the other. Other abnormalities may occur on the affected side of the torso. In some cases, additional muscles in the chest wall, side, and shoulder are missing or underdeveloped.

There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Poland syndrome most often affects the right side of the body, and occurs more often in males than in females.

It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation, but others recommend using alternate terminology in those cases.

Very frequent signs

Frequent signs

Occasional signs

The cause of Poland syndrome is unknown. However, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory.

The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder. Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.

The complete or partial absence of the pectoralis muscle, is the malformation that defines Poland Syndrome. It can be treated by the insertion of a custom implant designed by CAD (computer aided design). A 3D reconstruction of the patient's chest is performed from a medical scanner, to design a virtual implant perfectly adapted to the anatomy of each one. The implant is made of medical silicone unbreakable rubber.

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Wikipedia