Poland syndrome
From Wikipedia, the free encyclopedia
| ICD-10 | Q79.8 | |
|---|---|---|
| ICD-9 | 756.89 | |
| OMIM | 173800 | |
| DiseasesDB | 31679 | |
| eMedicine | plastic/132 | |
| MeSH | 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).
It is named after Sir Alfred Poland, who is credited with first reporting it after performing on autopsy at Guy's Hospital in London in 1841. [1]
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. [2] The incidence is estimated to range from one in 7,000 to one in 100,000 live births. [3]
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. [4]
British TV presenter Jeremy Beadle is one of the few celebrities with this disorder. [5]
[edit] 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
[edit] References
- ^ Poland, Alfred (1841). "Deficiency of the pectoral muscles". Guy’s Hospital Reports VI: 191-193.
- ^ "Learning about Poland Anomaly". Retrieved on February 9, 2007.
- ^ Fokin A, Robicsek F (2002). "Poland's syndrome revisited". Ann Thorac Surg 74 (6): 2218-25. PMID 12643435.
- ^ Poullin P, Toussirot E, Schiano A, Serratrice G (1992). "[Complete and dissociated forms of Poland's syndrome (5 cases)]". Rev Rhum Mal Osteoartic 59 (2): 114-20. PMID 1604222.
- ^ Burt, Jennifer. "Jeremy is a role model for children", Leicester (UK) Mercury, 1997-10-20.
