Poland Syndrome (cont.)

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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.

Medically Reviewed by a Doctor on 1/17/2014

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