Poland syndrome

A developmental disorder of the chest wall involving a unique pattern of one-sided malformations characterized by a defect (absence or underdevelopment) of the main chest muscle (the pectoralis major) on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). These features are congenital (are at birth) and have, in fact, been detected upon occasion before birth by ultrasound. Poland syndrome is a very mysterious disorder. For reasons that are unfathomable, it is 3 times more frequent in boys than girls. The disorder is currently classified "a nonspecific developmental field defect" (because all of the affected structures are clustered in one area of the body). The causative event has been presumed to occur at about the sixth week of fetal development. The syndrome affects 1 child in about 20,000. It cannot be entirely a genetic disorder since it can strike one twin and spare their identical twin. Diminished blood flow through the subclavian artery that goes to the affected arm has been blamed, but final proof for this idea is lacking. In truth, the cause of the syndrome is still uncertain. In Poland syndrome there is aplasia of the sternal head of the pectoralis major. In other words, the end of the main chest muscle that normally attaches the muscle to the breastbone is missing. On that side of the body, nearby chest muscles (the serratus anterior and latissimus dorsi muscles) may also be missing, as may be the hair in the armpit (the axilla). In girls, the breast on that side is also usually absent. The fingers show webbing and shortening (symbrachydactyly) on the hand on the same side. The child with Poland syndrome is usually entirely normal except for the problems already noted. Upon rare occasions, the Poland syndrome is associated with more severe finger and arm involvement or vertebral or kidney problems. Intelligence is not impaired by Poland syndrome. The Poland syndrome occurs sporadically ("out of the blue"). It is rarely familial. The risk of recurrence of Poland syndrome in the family is minute, except in the very small fraction of cases where there is a parent or other relative known with Poland syndrome. Reconstructive surgery has in the past been the main recourse. This has recently been done using solid silicone onlay prostheses. The next advance may well involve the implantation of bioengineered cartilage to give the chest a more normal look and natural feel. Other names for Poland syndrome include Poland sequence, Poland anomaly, Poland syndactyly, absence of the pectoralis muscle with syndactyly. The syndrome has nothing to do with the country of Poland. It is named for Alfred Poland. Born in 1822 in London, he became demonstrator in anatomy in 1839 at Guy's Hospital. There he dissected the body of a deceased convict named George Elt whom he reported had "Deficiency of the pectoral muscles" (Guy's Hosp. Rep. 6:191, 1841). Poland became a celebrated surgeon and ophthalmologist but had to retire in 1867 due to a chronic cough. He died in 1872 at the age of 51 of "consumption of the lungs" (pulmonary tuberculosis). Although Poland could never have discovered this syndrome without George Elt, Mr. Elt has not been credited nor has his name ever been associated with the syndrome.

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unilateral absence of the sternocostal head of the pectoralis major muscle and ipsilateral syndactyly; called also Poland anomaly.