Poland Syndrome

Poland Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Poland Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Poland Anomaly
  • Poland Syndactyly
  • Poland Sequence
  • Unilateral Defect of Pectoralis Muscle and Syndactyly of the Hand

Disorder Subdivisions

  • None

General Discussion

Poland Syndrome is a rare condition that is evident at birth (congenital). Associated features may be extremely variable from case to case. However, it is classically characterized by absence (aplasia) of chest wall muscles on one side of the body (unilateral) and abnormally short, webbed fingers (symbrachydactyly) of the hand on the same side (ipsilateral).



In those with the condition, there is typically unilateral absence of the pectoralis minor and the sternal or breastbone portion of the pectoralis major. The pectoralis minor is a thin, triangular muscle of the upper chest wall; the pectoralis major is a large, fanlike muscle that covers most of the upper, front part of the chest.



Affected individuals may have variable associated features, such as underdevelopment or absence of one nipple (including the darkened area around the nipple [areola]) and/or patchy absence of hair under the arm (axilla). In females, there may be underdevelopment or absence (aplasia) of one breast and underlying (subcutaneous) tissues. In some cases, associated skeletal abnormalities may also be present, such as underdevelopment or absence of upper ribs; elevation of the shoulder blade (Sprengel deformity); and/or shortening of the arm, with underdevelopment of the forearm bones (i.e., ulna and radius).



Poland Syndrome affects males more commonly than females and most frequently involves the right side of the body. The exact cause of the condition is unknown.

Symptoms

Associated symptoms and findings are extremely variable, including in rare cases in which more than one family member has been affected. For example, in some reported cases, one sibling has had all major features of the condition, while the other sibling has had only absence of pectoral muscle or hand involvement.



However, as noted above, Poland Syndrome is most commonly characterized by absence of chest wall muscles on one side of the body (unilateral) as well as involvement of the hand on the same side (ipsilateral). In approximately 75 percent of cases, such abnormalities affect the right side of the body.



In most affected individuals, there is absence of the sternal portion of the pectoralis major as well as absence of the pectoralis minor. The pectoralis major, a large muscle of the upper chest wall, arises from the breastbone (sternum), the collarbone (clavicle), and cartilages of the second to the sixth ribs; it acts on the joint of the shoulder, functioning to move the arm across the body. The pectoralis minor is a thin, triangular muscle beneath the pectoralis major. This muscle arises from the third to fifth ribs and functions to rotate the shoulder blade (scapula) and move it forward and down.



In some individuals with Poland Syndrome, there may also be unilateral absence of other regional muscles, such as certain large muscles of the back (latissimus dorsi) and/or a thin muscle of the chest wall that extends from ribs under the arm to the scapula (serratus anterior).



In some cases, associated abnormalities may include underdevelopment or absence of the darkened area around the nipple (areola) and the nipple and/or abnormal patchy hair growth under the arm (axilla). In addition, in affected females, there may be underdevelopment or absence of the breast and subcutaneous tissues.



Additional, variable bone defects may also be present in some individuals with Poland Syndrome. These may include underdevelopment or absence of certain upper ribs and the bars of cartilage (costal cartilages) by which the ribs are attached to the sternum. In addition, in some cases, there may be abnormal elevation and/or underdevelopment of the shoulder blade (scapula), limited movement of the arm on the affected side, and the development of a lump at the base of the neck due to elevation of the scapula (a condition known as Sprengel deformity). (For more information, please choose "Sprengel" as your search term in the Rare Disease Database.)



As noted above, most individuals with Poland Syndrome also have involvement of the hand on the affected side of the body. Certain bones of the fingers (phalanges) are underdeveloped or absent, resulting in abnormally short fingers (brachydactyly). In addition, in most cases, there is webbing (syndactyly) of certain fingers, particularly the index and middle fingers. In addition, in some cases, affected individuals may have abnormal shortening of the arm, with underdevelopment of the bones on the thumb and pinky sides of the forearm (i.e., radius and ulna).

Causes

According to reports in the medical literature, an overwhelming majority of cases appear to occur randomly for unknown reasons (sporadically) in the absence of a family history. However, in some very rare cases, familial patterns have been reported, including occurrence of the condition in a parent and child and in siblings born to unaffected parents. Some researchers suggest that apparently familial cases may result from inherited susceptibility to a certain event or anomaly (such as early interruption of blood flow) that may predispose to the syndrome (see directly below).



Poland Syndrome is sometimes referred to as Poland sequence. A "sequence" (or anomalad) refers to a pattern of malformations derived from a single anomaly. According to some investigators, the primary defect in Poland Syndrome may be impaired development of a certain artery or other mechanical factors that may result in diminished or interrupted blood flow during early embryonic growth. The term "Subclavian Artery Supply Disruption Sequence" has been suggested for a group of conditions that may occur due to disruption of blood flow through particular arteries (i.e., subclavian artery, vertebral artery, and/or their branches) at or around the sixth week of embryonic development. Such conditions include Poland Syndrome, Moebius Syndrome, Klippel-Feil Syndrome, and Sprengel deformity. The specific pattern of defects that results is thought to depend on the particular site and degree of the diminished blood flow. (For further information on Moebius Syndrome, see the "Related Disorders" section below. For more on Klippel-Feil Syndrome and Sprengel deformity, choose "Klippel" or "Sprengel" as your search term in the Rare Disease Database.)

Affected Populations

Poland Syndrome was named for the investigator (Poland A) who initially described the condition in 1841. According to reports in the medical literature, Poland Syndrome appears to be three times as common in males as females. Estimates of its incidence have ranged from approximately one in 10,000 to one in 100,000 individuals. (Incidence refers to the number of new cases in a particular period.)



As noted above, Poland Syndrome affects the right side of the body in approximately 75 percent of cases. In 1998, investigators reported what was thought to be the first known case in which both sides of the body have been affected (bilateral). Researchers described a young girl with bilateral absence of pectoralis muscle, symmetric chest wall deformity, and bilateral hand involvement.

Standard Therapies

Diagnosis

The diagnosis of Poland Syndrome is usually made at birth based upon characteristic physical findings, a thorough clinical evaluation, and a variety of specialized tests. Such tests may include advanced imaging techniques, such as a CT scan that can determine the extent to which the muscles may be affected. During CT scanning, a computer and X-rays are used to create a film showing cross-sectional images particular organs or structures within the body. X-ray studies may be used to help identify and characterize specific abnormalities in the hands, forearms, ribs, and/or shoulder blades.



Treatment

The treatment of Poland Syndrome is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. Plastic surgery may be performed to rebuild the chest wall and to graft ribs into their proper places. In females, plastic surgery may also be performed to construct a breast mound. In some cases, surgery may also be performed to help correct skeletal abnormalities affecting other areas of the body such as the hands. Physical therapy may also be prescribed to help improve any limitations of motion.



Genetic counseling will be of benefit for affected individuals and their families. Other treatment for this disorder is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Jones KL. Smith's Recognizable Patterns of Human Malformation. 5th ed. Philadelphia, Pa; WB Saunders Company; 1997:230-31, 302-03.



Buyse ML. Birth Defects Encyclopedia. Dover, Mass: Blackwell Scientific Publications, Inc; 1990:309-10, 1394-95.



Gorlin RJ, et al., eds. Syndromes of the Head and Neck. 3rd ed. New York, NY: Oxford University Press; 1990:666-675.



JOURNAL ARTICLES

Slezak R, et al. Poland's syndrome. Pol Merkuriusz Lek. 2000;9:568-71.



Stevens DB, et al. Poland's syndrome in one identical twin. J Pediatr Orthop. 2000;20:392-95.



Urschel HC Jr. Poland's syndrome. Chest Surg Clin N Am. 2000;10:393-403.



Karnak I, et al. Bilateral Poland anomaly. Am J Med Genet. 1998;75:505-07.



Avrech OM, et al. Poland anomaly after in vitro fertilization. Fertil Steril. 1994;62:1268-70.



Anne A, et al. Congenital malformations at the level of the upper extremities: Poland syndrome. Acta Belg Med Phys. 1990;13:59-62.



Fernandez Gonzalez AL, et al. Poland's syndrome. A case report. Rev Med Univ Navarra. 1990;34:21-23.



Garcia VF, et al. Reconstruction of congenital chest-wall deformities. Surg Clin North Am. 1989;69:1103-18.



Cobben JM, et al. Poland anomaly in mother and daughter. Am J Med Genet. 1989; 33:519-21.



Genovese MG, et al. Role of computerized tomography in Poland syndrome. Minerva Chir. 1989;44:1375-77.



Darian VB, et al. Familial Poland's syndrome. Ann Plast Surg. 1989;23:531-37.



Seyfer AE, et al. Poland's anomaly. Natural history and long-term results of chest wall reconstruction in 33 patients. Ann Surg. 1988;208:776-82.



Soltan HC, et al. Familial occurrence of malformations possibly attributable to vascular abnormalities. J Pediat. 1986;108:112-14.



Bartoshesky LE, et al. Familial occurrence of malformations possibly attributable to vascular abnormalities [letter]. J Pediat. 1986;109: 396.



Bavinck JN, et al. Subclavian artery supply disruption sequence: hypothesis of a vascular etiology for Poland, Klippel-Feil, and Moebius anomalies. Am J Med Genet. 1986;23:903-18.



Santi P, et al. Poland's syndrome: correction of thoracic anomaly through minimal incisions. Plast Reconstr Surg. 1985;76:639-41.



David TF. Familial Poland anomaly. J Med Genet. 1982;19:293-96.



Bouvet, JP, et al. Vascular origin of Poland syndrome? A comparative rheographic study of vascularisation of the arms of eight patients. Europ J Pediat. 1978;128:17-26.



FROM THE INTERNET

Online Mendelian Inheritance in Man (OMIM). Victor A. McKusick, Editor; Johns Hopkins University, Last Edit Date 3/30/98. Entry Number 173800.



eMedicine - Poland Syndrome Author: Bradon J Wilhelmi, MD,

http://www.emedicine.com/plastic/topic132.htm

Resources

NIH/National Institute of Arthritis and Musculoskeletal and Skin Diseases

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Madisons Foundation

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Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

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