Disease: Poland Syndrome

    Poland syndrome facts

    • Poland syndrome is a congenital malformation affecting the chest muscle and hand on one side of the body.
    • The cause of Poland syndrome is not yet certain.
    • The main chest muscle (the pectoralis major) is absent.
    • The fingers are webbed on the same side of the body.
    • In girls, the breast on that side may be absent.
    • Treatment includes reconstructive surgery and possibly implantation of bioengineered tissue.

    What is Poland syndrome?

    First described by the 19th-century British anatomist Sir Alfred Poland, Poland syndrome is a unique pattern of one-sided malformations that are present at birth (congenital malformations). Poland syndrome is noted for the underdevelopment or absence of the chest (pectoralis) muscles on one side of the body as well as webbing of the fingers (cutaneous syndactyly) on the hand of the same side (ipsilateral side) of the body.

    Can Poland syndrome affect either side of the body?

    Yes. For reasons not understood, Poland syndrome is twice as likely to involve the right side of the body.

    How frequent is Poland syndrome?

    The severity of Poland syndrome is variable, and it is possible for mild cases not to be evident until puberty when breast tissue and chest muscle mass development become more obvious. It is felt, therefore, that cases may be misdiagnosed and underreported. Experts currently are reporting an incidence of one in 10,000 to one in 100,000 live births. For reasons unknown, boys are more likely than girls to have Poland syndrome.

    What causes Poland syndrome?

    The cause of Poland syndrome is not known. 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 supplies blood to the arm has been blamed, but final proof for this idea is lacking. Speculation has involved two hypotheses. One proposes that the underlying ribs on the affected side grow too quickly in a forward growth plane and thus reduce the flow of blood in the arteries leading to the overlying pectoralis muscle and arm on the affected side. Another proposal is that a malformation of the embryonic blood vessel serving the pectoralis muscle and arm/hand on that side of the body limits blood flow to these structures. To date no animal research has provided conclusive support for these proposals.

    What are the features of Poland syndrome?

    While the complete expression of the physical changes associated with Poland syndrome vary among patients, common themes include:

    1. underdevelopment or absence of the main chest muscle (pectoralis) as well as secondary muscles of the chest and armpit region;
    2. the end of the pectoralis muscle attachment to the breastbone (sternum) is absent;
    3. the nipple, areola, and (in females) underlying breast tissues are underdeveloped or absent;
    4. short and webbed fingers (cutaneous syndactyly) on the affected side; and
    5. armpit hair on the affected side is missing.

    What other defects are associated with Poland syndrome?

    The child with Poland syndrome usually is entirely normal except for the problems already noted. The skin in the involved area may be abnormally thinned or missing underlying fat normally present beneath the skin. Very rarely, the rib cage on the involved side may be underdeveloped or missing. Equally rare may be the abnormal development of the shoulder blade (scapula) or bones of the forearm (radius and ulna) on the affected side of the body. Spine and kidney malformations are also occasionally reported in patients with Poland syndrome. Intelligence is not impaired in Poland syndrome.

    Does Poland syndrome run in families?

    Geneticists currently hold that Poland syndrome is rarely inherited and generally is a sporadic event. There are rare instances where more than one individual has been identified with Poland syndrome either in the immediate or extended family. Experience with an affected parent passing the syndrome to offspring has been described. Similarly, there are reports in the literature of affected siblings born to unaffected parents. The exact mode of genetic transmission has not been determined. Research is centering on inherited mechanisms dealing with intrauterine reduction of blood flow to the affected areas.

    What are the features of Poland syndrome?

    While the complete expression of the physical changes associated with Poland syndrome vary among patients, common themes include:

    1. underdevelopment or absence of the main chest muscle (pectoralis) as well as secondary muscles of the chest and armpit region;
    2. the end of the pectoralis muscle attachment to the breastbone (sternum) is absent;
    3. the nipple, areola, and (in females) underlying breast tissues are underdeveloped or absent;
    4. short and webbed fingers (cutaneous syndactyly) on the affected side; and
    5. armpit hair on the affected side is missing.

    What other defects are associated with Poland syndrome?

    The child with Poland syndrome usually is entirely normal except for the problems already noted. The skin in the involved area may be abnormally thinned or missing underlying fat normally present beneath the skin. Very rarely, the rib cage on the involved side may be underdeveloped or missing. Equally rare may be the abnormal development of the shoulder blade (scapula) or bones of the forearm (radius and ulna) on the affected side of the body. Spine and kidney malformations are also occasionally reported in patients with Poland syndrome. Intelligence is not impaired in Poland syndrome.

    Does Poland syndrome run in families?

    Geneticists currently hold that Poland syndrome is rarely inherited and generally is a sporadic event. There are rare instances where more than one individual has been identified with Poland syndrome either in the immediate or extended family. Experience with an affected parent passing the syndrome to offspring has been described. Similarly, there are reports in the literature of affected siblings born to unaffected parents. The exact mode of genetic transmission has not been determined. Research is centering on inherited mechanisms dealing with intrauterine reduction of blood flow to the affected areas.

    Source: http://www.rxlist.com

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