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Poland syndrome

Synonym(s) Poland anomaly
Poland sequence
Prevalence 1-9 / 100 000
Inheritance Autosomal dominant
or Not applicable
Age of onset Infancy
  • Q79.8
  • C0032357
  • D011045
  • 10036007


Disease definition

Poland syndrome is marked by a unilateral absence or hypoplasia of the pectoralis major muscle (most frequently involving the sternocostal portion), and a variable degree of ipsilateral hand anomalies, including symbrachydactyly.


The prevalence at birth is about 1 to 3 per 100 000. Males are more often affected than females.

Clinical description

Various anomalies of the breasts and nipples, and variable involvement of the hand and forearm (some patients having normal hands) have also been reported. The absence of other muscles around the shoulder girdle is a frequent feature.


The syndrome is thought to be of vascular origin, for example a result of a disruption in the blood supply in the subclavian artery.

Genetic counseling

Poland syndrome is most commonly a sporadic condition, but rare familial cases have been reported, compatible with an autosomal dominant mode of inheritance.

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