Poland Syndrome

  • Medical Author:
    John Mersch, MD, FAAP

    Dr. Mersch received his Bachelor of Arts degree from the University of California, San Diego, and prior to entering the University Of Southern California School Of Medicine, was a graduate student (attaining PhD candidate status) in Experimental Pathology at USC. He attended internship and residency at Children's Hospital Los Angeles.

  • Medical Editor: William C. Shiel Jr., MD, FACP, FACR
    William C. Shiel Jr., MD, FACP, FACR

    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

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 6/10/2015

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