Poland syndrome
Encyclopedia
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 (but not always) 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 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.
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.
, 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.
TV presenter Jeremy Beadle
(1948–2008) was known for having this condition. His Poland Syndrome manifested itself in the form of his withered 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.
Very Frequent Signs
Frequent Signs
Occasional Signs
Alfred Poland
Sir Alfred Poland was a 19th century British surgeon. He is now best known for the first account of Poland syndrome, a congenital deformity now described as an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side .Poland...
syndrome (also Poland's syndrome, Poland's syndactyly, Poland sequence
Sequence (medicine)
In medicine, a sequence is a series of ordered consequences due to a single cause.It differs from a syndrome in that seriality is more predictable: if A causes B, and B causes C, and C causes D, then D would not be seen if C is not seen...
, and Poland's anomaly) is a rare birth defect characterized by underdevelopment or absence of the chest muscle (pectoralis
Pectoralis major muscle
The pectoralis major is a thick, fan-shaped muscle, situated at the chest of the body. It makes up the bulk of the chest muscles in the male and lies under the breast in the female...
) on one side of the body and (but not always) webbing of the fingers (cutaneous syndactyly
Syndactyly
Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
) 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 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
It was first named in 1962 by Patrick Clarkson, a New ZealandNew Zealand
New Zealand is an island country in the south-western Pacific Ocean comprising two main landmasses and numerous smaller islands. The country is situated some east of Australia across the Tasman Sea, and roughly south of the Pacific island nations of New Caledonia, Fiji, and Tonga...
born, British plastic surgeon working at Guy's Hospital
Guy's Hospital
Guy's Hospital is a large NHS hospital in the borough of Southwark in south east London, England. It is administratively a part of Guy's and St Thomas' NHS Foundation Trust. It is a large teaching hospital and is home to the King's College London School of Medicine...
and Queen Mary's Hospital
Queen Mary's Hospital
Queen Mary's Hospital Roehampton is a hospital in the United Kingdom. It was founded in 1915 to provide care for wounded soldiers, it became a world renowned limb fitting and amputee rehabilitation centre. Recently rebuilt and modernized it has become a unit of the Wandsworth Primary Care Trust...
, 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
Guy's Hospital
Guy's Hospital is a large NHS hospital in the borough of Southwark in south east London, England. It is administratively a part of Guy's and St Thomas' NHS Foundation Trust. It is a large teaching hospital and is home to the King's College London School of Medicine...
, Dr Philip Evans, who agreed that the syndrome was "not widely appreciated". Clarkson found a reference to a similar deformity published by Alfred Poland
Alfred Poland
Sir Alfred Poland was a 19th century British surgeon. He is now best known for the first account of Poland syndrome, a congenital deformity now described as an underdevelopment or absence of the chest muscle on one side of the body and webbing of the fingers of the hand on the same side .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 InstituteNational Human Genome Research Institute
The National Human Genome Research Institute is a division of the National Institutes of Health, located in Bethesda, Maryland.NHGRI began as the National Center for Human Genome Research , which was established in 1989 to carry out the role of the NIH in the International Human Genome Project...
, 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.Notable cases
BritishBritish people
The British are citizens of the United Kingdom, of the Isle of Man, any of the Channel Islands, or of any of the British overseas territories, and their descendants...
TV presenter Jeremy Beadle
Jeremy Beadle
Jeremy James Anthony Gibson-Beadle MBE was an English television presenter, writer and producer. During the 1980s, he was a regular face on British television and in two years appeared 50 weeks of the year. His shows regularly topped the charts beating Coronation Street and EastEnders on one...
(1948–2008) was known for having this condition. His Poland Syndrome manifested itself in the form of his withered right hand.
Olympic boxer Jérôme Thomas
Jérôme Thomas
Jérôme Thomas is a boxer from France, competing in the flyweight division....
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
PGA Tour
The PGA Tour is the organizer of the main men's professional golf tours in the United States and North America...
golfer Bryce Molder
Bryce Molder
Bryce Wade Molder is an American professional golfer who currently plays on the PGA Tour.-Early life:Molder was born in Harrison, Arkansas and attended public school in Tulsa, Oklahoma and Conway, Arkansas...
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.
Clinical features
- Abnormal gastrointestinal tract
- Absent pectoralPectoralis major muscleThe pectoralis major is a thick, fan-shaped muscle, situated at the chest of the body. It makes up the bulk of the chest muscles in the male and lies under the breast in the female...
muscles - BrachydactylyBrachydactylyBrachydactyly , is a medical term which literally means "shortness of the fingers and toes" . The shortness is relative to the length of other long bones and other parts of the body. Brachydactyly is an inherited, usually dominant trait...
(Short fingers) - DextrocardiaDextrocardiaDextrocardia is a congenital defect in which the heart is situated on the right side of the body. There are two main types of dextrocardia: dextrocardia of embryonic arrest and dextrocardia situs inversus...
- DiaphragmThoracic diaphragmIn the anatomy of mammals, the thoracic diaphragm, or simply the diaphragm , is a sheet of internal skeletal muscle that extends across the bottom of the rib cage. The diaphragm separates the thoracic cavity from the abdominal cavity and performs an important function in respiration...
atic herniaHerniaA hernia is the protrusion of an organ or the fascia of an organ through the wall of the cavity that normally contains it. A hiatal hernia occurs when the stomach protrudes into the mediastinum through the esophageal opening in the diaphragm....
/defect - HumerusHumerusThe humerus is a long bone in the arm or forelimb that runs from the shoulder to the elbow....
absent/abnormal - LiverLiverThe liver is a vital organ present in vertebrates and some other animals. It has a wide range of functions, including detoxification, protein synthesis, and production of biochemicals necessary for digestion...
/biliary tract anomalies - Maternal diabetes
- OligodactylyOligodactylyOligodactyly in humans is "the presence of fewer than five fingers or toes on a hand or foot". It is quite often incorrectly called hypodactyly, but the Greek prefixes hypo- and hyper- are used for continuous scales...
/missing fingers - RadiusRadius (bone)The radius is one of the two large bones of the forearm, the other being the ulna. It extends from the lateral side of the elbow to the thumb side of the wrist and runs parallel to the ulna, which exceeds it in length and size. It is a long bone, prism-shaped and slightly curved longitudinally...
absent/abnormal - Rhizomelic micromelia (relatively shorter proximal segment of the limbs compared to the middle and the distal segments)
- SyndactylySyndactylySyndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, such as the siamang and kangaroo, but is an unusual condition in humans.-Classification:...
of fingers (webbing) - UlnaUlnaThe ulna is one of the two long bones in the forearm, the other being the radius. It is prismatic in form and runs parallel to the radius, which is shorter and smaller. In anatomical position The ulna is one of the two long bones in the forearm, the other being the radius. It is prismatic in form...
absent/abnormal - Upper limb asymmetryAsymmetryAsymmetry is the absence of, or a violation of, symmetry.-In organisms:Due to how cells divide in organisms, asymmetry in organisms is fairly usual in at least one dimension, with biological symmetry also being common in at least one dimension....
- Abnormal ribRibIn vertebrate anatomy, ribs are the long curved bones which form the rib cage. In most vertebrates, ribs surround the chest, enabling the lungs to expand and thus facilitate breathing by expanding the chest cavity. They serve to protect the lungs, heart, and other internal organs of the thorax...
dumbness - Simian creaseSimian creaseIn humans, a single transverse palmar crease is a single crease that extends across the palm of the hand, formed by the fusion of the two palmar creases that people typically have...
on affected side
Frequent Signs
- HypoplasticHypoplasiaHypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
/absent nipples - ScapulaScapulaIn anatomy, the scapula , omo, or shoulder blade, is the bone that connects the humerus with the clavicle ....
anomaly
Occasional Signs
- AgenesisAgenesisIn medicine, agenesis refers to the failure of an organ to develop during embryonic growth and development due to the absence of primordial tissue...
/hypoplasiaHypoplasiaHypoplasia is underdevelopment or incomplete development of a tissue or organ. Although the term is not always used precisely, it properly refers to an inadequate or below-normal number of cells. Hypoplasia is similar to aplasia, but less severe. It is technically not the opposite of hyperplasia...
of kidneys - EncephaloceleEncephaloceleEncephalocele, sometimes known by the Latin name cranium bifidum, is a neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. These defects are caused by failure of the neural tube to close completely during fetal...
/exencephaly - Abnormal morphology of hypothalamic-hypophyseal axis
- Abnormal function of hypothalamic-hypophyseal axis
- MicrocephalyMicrocephalyMicrocephaly is a neurodevelopmental disorder in which the circumference of the head is more than two standard deviations smaller than average for the person's age and sex. Microcephaly may be congenital or it may develop in the first few years of life...
- Preaxial polydactylyPolydactylyPolydactyly or polydactylism , also known as hyperdactyly, is a congenital physical anomaly in humans, dogs, and cats having supernumerary fingers or toes....
- UreterUreterIn human anatomy, the ureters are muscular tubes that propel urine from the kidneys to the urinary bladder. In the adult, the ureters are usually long and ~3-4 mm in diameter....
ic anomalies (reflux/duplex system) - Vertebral segmentation anomaly
External links
- Poland syndrome website
- http://www.bodybonding.com/main/ps-coaching-book/ Poland Syndrome Book