Poland syndrome is a unique pattern of one-sided malformations that are present at birth. Poland syndrome is characterized by a defect of the chest (pectoralis) muscle on one side of the body and webbing of the fingers (cutaneous syndactyly) of the hand on the same side (ipsilateral hand). The four essential features of this condition are 1) unilateral shortening of the index, long, and ring fingers, 2) syndactyly of the affected digits, 3) hypoplasia of the hand, and 4) absence of the sternocostal portion of the ipsilateral pectoralis major muscle. (Flatt, 1994)
Why is it named "Poland's Syndrome"?
"Poland" does not refer to the nation but to Sir Alfred Poland, a 19th-century British surgeon. 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).
Can Poland syndrome affect either side of the body?
Yes, but studies indicate it is right-sided three times more often than it is left-sided.
How frequent is Poland's Syndrome?
Poland syndrome is considered rare by The (US) National Institute of Health Office of Rare Diseases as it affects fewer than 200,000 individuals in the United States. It affects 1 child in about 20,000 - 30,000. For reasons that are unclear, Poland's syndrome is 3 times more frequent in boys than girls.
What causes Poland's Syndrome?
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. According to one report, diminished blood flow through the subclavian artery that goes to the arm has been blamed, but final proof for this idea is lacking.
The exact cause of Poland anomaly is not known, but may result from the interruption of fetal growth at about the 46th day of pregnancy, when the fetal fingers and pectoralis muscle are developing. Several researchers have suggested that there may be too little blood flow through the fetal subclavian artery that goes to the chest and arm; the more severe the blood flow disruption, the more numerous and severe the resulting malformations. However, the final proof for this idea has not been found. (Encyclopedia of Genetic Disorders: Poland anomaly)
What are the features of Poland's Syndrome?
In patients with Poland's syndrome, the end of the main chest muscle that normally attaches to the breastbone is missing. (This condition is referred to as aplasia of the sternal head of the pectoralis major.) On the same 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, typically the index, long, and ring fingers.
What other defects are associated with Poland's Syndrome?
The child with Poland syndrome usually is entirely normal except for the problems already noted. Upon rare occasions, Poland's syndrome is associated with more severe finger and arm involvement or spine or kidney problems. Intelligence is rarely, if ever, impaired by Poland syndrome.
Anomalies associated with Poland's syndrome are scoliosis, Moebius syndrome, Sprengel's deformity, renal hypoplasia and aplasia, spherocytosis, leukemia, lymphoma, and pectus excavatum or carinatum. In patients with left-sided Poland' Syndrome, an increased incidence of dextrocardia has been described. (Hamburg, 2001)
I have syndactyly of the hand. Do I have Poland's Syndrome?
Not necessarily. There are 28 syndromes in which syndactylism can occur. The reported incidence of Poland's syndrome in patients with syndactyly of the hand ranges from 2.5% to 14%. (Hamburg, 2001)
I am missing a pectoral muscle. Do I have Poland's Syndrome?
Not necessarily. Pectoral aplasia is the most frequent skeletal muscle deficiency in the general population, but only 13.5% of the people with this defect have Poland's Syndrome. (Flatt, 1994)
Does Poland syndrome run in families?
No, as a rule, Poland's Syndrome occurs sporadically ("out of the blue") and does not run in families. The risk of recurrence of Poland's Syndrome in the family is minute (1%). For purposes of genetic counseling, Poland's Syndrome can be regarded as a sporadic condition with an extremely low risk of being transmitted from parent to child. (Encyclopedia of Genetic Disorders: Poland anomaly)
How is Poland's Syndrome treated?
Reconstructive surgery has in the past been the main recourse. Fused fingers are separated as early as possible and breast or chest implants my be used after full physical development has been reached. Today, bioengineered cartilage can be implanted to help give the chest a more normal appearance.
Other names for Poland's Syndrome include Poland sequence, Poland anomaly, Poland syndactyly, absence of the pectoralis muscle with syndactyly, Pectoral dysplasia-dysdactyly. "Poland" may be seen as the possesive "Poland's" or simply "Poland", depending on the author.
