Definition of Poland syndactyly

Poland syndactyly: A unique pattern of one-sided malformations characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the ipsilateral hand (the hand on the same side). Often called Poland syndrome.

It is right-sided three times more often than it is left-sided. It is not common, affecting 1 child in about 20,000. For reasons that are unfathomable, Poland syndrome is 3 times more frequent in boys than girls. The cause of Poland syndrome is uncertain. The disorder is currently considered "a nonspecific developmental field defect" occurring at about the sixth week of fetal development. Diminished blood flow through the subclavian artery that goes to the arm has been blamed, but final proof for this idea is lacking. 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 to the breastbone is missing. On that side of the body, nearby chest muscles (the serratus anterior and latissimus dorsi muscles) may also be absent as may be the armpit (axillary) hair. 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 usually is 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 syndrome occurs sporadically ("out of the blue") and is not 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. Now bioengineered cartilage may be implanted to help give the chest a more normal look. Other names for Poland syndrome include Poland sequence, Poland anomaly, Poland syndactyly, absence of the pectoralis muscle with syndactyly.

The syndrome 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.