Poland syndrome

Poland syndrome
File:Polanda.jpg Digital mammogram (Mediolateral view) showing absence of the pectoralis major muscle and architectural distortion on the left side and normal right breast
Classification and external resources
Specialty
ICD-10	Q79.8
ICD-9-CM	756.89
OMIM	173800
DiseasesDB	31679
eMedicine	plastic/132
Patient UK	Poland syndrome
MeSH	D011045

Poland syndrome (also Poland's syndrome, Poland's syndactyly, Poland sequence, 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 usually also webbing of the fingers (cutaneous syndactyly) of the hand on the same side (the ipsilateral hand). In most affected individuals, the missing part is the large section of the muscle that normally attaches to the upper arm on one side and the breastbone (sternum) on the other. Other abnormalities may occur on the affected side of the torso. In some cases, additional muscles in the chest wall, side, and shoulder are missing or underdeveloped.

There may also be rib cage abnormalities, such as shortened ribs, and the ribs may be noticeable due to less fat under the skin (subcutaneous fat). Breast and nipple abnormalities may also occur, and underarm (axillary) hair is sometimes sparse or abnormally placed. In most cases, the abnormalities in the chest area do not cause health problems or affect movement. Poland syndrome most often affects the right side of the body, and occurs more often in males than in females.

It is usually considered a unilateral condition. Some have claimed that the term can be applied in bilateral presentation, but others recommend using alternate terminology in those cases.

History

File:Poland syndrome description.jpg

Alfred Poland's original description of the syndrome.

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. 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.

Epidemiology

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. The incidence is estimated to range from one in 7,000 to one in 100,000 live births.

Causes

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.

The subclavian arteries normally supply blood to embryonic tissues that give rise to the chest wall and hand. Variations in the site and extent of the disruption may explain the range of signs and symptoms that occur in Poland syndrome. Abnormality of an embryonic structure called the apical ectodermal ridge, which helps direct early limb development, may also be involved in this disorder. Rare cases of Poland syndrome are thought to be caused by a genetic change that can be passed down in families, but no related genes have been identified.

Notable cases

British TV presenter Jeremy Beadle (1948–2008) was known for having this condition. His Poland Syndrome manifested itself in the form of his disproportionately small right hand.

Olympic boxer Jérôme Thomas is also affected by Poland syndrome as his left arm and hand are significantly shorter and smaller than his right. Thomas also lacks a left pectoral muscle.

PGA Tour golfer Bryce Molder has Poland syndrome with an absent left pectoral muscle and a small left hand. Several surgeries in his childhood repaired syndactly on the left hand.

Researchers from the Department of Rehabilitation Medicine at the Yonsei University College of Medicine in Seoul, Korea reported a case of congenital absence of pectoralis major in 1990. According to Kakulas and Adams, pectoralis major is the most frequently congenitally absent muscle. The case involved a 22-year-old marine who had asymmetrical configuration of chest wall who had never experienced difficulties performing daily activities, but who experienced difficulties in the military camp. He had difficulty in some training activities especially those such as throwing a grenade or rope climbing.

Clinical features

File:Poland-syndrome.jpg

Example female breasts with Poland syndrome

Very frequent signs

• Abnormal gastrointestinal tract
• Absent pectoral muscles
  File:Showing Poland syndrome clearly.jpg

  Male showing left pectoral absent
• 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)
• Sparcity or abnormality of axillary hair on affected side
• Syndactyly of fingers (webbing)
• Ulna absent/abnormal
• Upper limb asymmetry
• Abnormal rib
• Simian crease on affected side

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

External links

• Poland Syndrome support
• PIP-UK Poland Syndrome Support - UK Charity