Poland syndrome

Poland syndrome (also Poland's syndrome, Poland's syndactyly and Poland's anomaly) is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis) on one side of the body and webbing of the fingers (cutaneous syndactyly) of the hand on the same side (ipsilateral hand).

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It was first named in 1962 by Patrick Clarkson, a New Zealand born, British Plastic surgeon working at Guy's Hospital and Queen Mary's Hospital, London. He noticed that three of his patients had both a hand deformity and an underdeveloped breast on the same side. He discussed this with his colleague at Guy's hospital, Dr Philip Evans, who agreed that the syndrome was "not widely appreciated". Clarkson found a reference to a similar deformity published by Alfred Poland, over a hundred years earlier in Guy's Hospital reports, in 1841.^[1] Clarkson was able to find the hand specimen dissected by Poland which was still held in the hospital pathology museum. Poland had dissected a convict called George Elt, who was said to be unable to draw his hand across his chest. Poland noted the chest wall deformity and this was illustrated in his article, the hand was also dissected and preserved for posterity in Guy's hospital museum, where it remains today. It cannot be truly said that Poland described this syndrome because he only described one isolated case. Clarkson published his series of three cases and named the syndrome after Poland in his article.^[2]

According to the National Human Genome Research Institute, Poland syndrome affects males three times as often as females and affects the right side of the body twice as often as the left. ^[3] The incidence is estimated to range from one in 7,000 to one in 100,000 live births. ^[4]

The cause of Poland syndrome is unknown, however, an interruption of the embryonic blood supply to the arteries that lie under the collarbone (subclavian arteries) at about the 46th day of embryonic development is the prevailing theory. ^[5]

British TV presenter Jeremy Beadle is one of the few celebrities with this disorder. ^[6]

Clinical features

 Very Frequent Signs

• Abnormal gastrointestinal tract
• Absent pectoral muscles
• Brachydactyly (Short fingers)
• Dextrocardia
• Diaphragmatic hernia/defect
• Humerus absent/abnormal
• Liver/biliary tract anomalies
• Maternal diabetes
• Oligodactyly/missing fingers
• Radius absent/abnormal
• Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)
• Syndactyly of fingers (webbing)
• Ulnar absent/abnormal
• Upper limb asymmetry
• Abnormal rib

Frequent Signs

• Hypoplastic/absent nipples
• Scapula anomaly

Occasional Signs

• Agenesis/hypoplasia of kidneys
• Encephalocele/exencephaly
• Abnormal morphology of hypothalamic-hypophyseal axis
• Abnormal function of hypothalamic-hypophyseal axis
• Microcephaly
• Preaxial polydactyly
• Ureteric anomalies (reflux/duplex system)
• Vertebral segmentation anomaly

References