Poland syndrome

DiseaseDisorder infobox
Name = Poland syndrome
DiseasesDB = 31679
ICD10 = ICD10|Q|79|8|q|65
ICD9 = ICD9|756.89
OMIM = 173800
eMedicineSubj = plastic
eMedicineTopic = 132
MeshName = Poland+Syndrome
MeshNumber = C05.116.099.370.894.819.756

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) mostly common on the right side of body and found more in males than females.

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. [cite journal | last = Poland | first = Alfred | title = Deficiency of the pectoral muscles | journal = Guy’s Hospital Reports |volume =VI | pages =191–193 | date =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. [Clarkson P. Poland’s syndactyly. Guys Hosp Rep 1962;111]

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. [cite web | title="Learning about Poland Anomaly" | url=http://www.genome.gov/14514230 | accessdate = 2007-02-09 ] The incidence is estimated to range from one in 7,000 to one in 100,000 live births. [cite journal |author=Fokin A, Robicsek F |title=Poland's syndrome revisited |journal=Ann Thorac Surg |volume=74 |issue=6 |pages=2218–25 |year=2002 |pmid=12643435 |doi=10.1016/S0003-4975(02)04161-9]

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. [cite journal |author=Poullin P, Toussirot E, Schiano A, Serratrice G |title= [Complete and dissociated forms of Poland's syndrome (5 cases)] |journal=Rev Rhum Mal Osteoartic |volume=59 |issue=2 |pages=114–20 |year=1992 |pmid=1604222]

Jeremy Beadle

The British TV presenter Jeremy Beadle (1948-2008) was one of the few celebrities with this disorder. His Poland Syndrome manifested itself in the form of his withered right hand. [cite news | last = Burt | first = Jennifer | title = Jeremy is a role model for children | publisher = Leicester (UK) Mercury | date = 1997-10-20 ]

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)
*Ulna 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

External links

* [http://www.polands-syndrome.com/ Poland syndrome website]