Poland Anomaly

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Poland anomaly

Definition

Poland anomaly is a rare pattern of malformations present at birth that includes unilateral changes in the chest and shoulder girdle muscles, forearm bones, and fingers. Although there are other associated features, the most recognized characteristics are abnormalities of the major chest muscles (pectoralis) and the presence of syndactyly or webbing that joins the fingers of the hand. Treatment of this anomaly is mainly through reconstructive surgery.

Description

Poland anomaly (also known as Poland syndactyly, Poland syndrome, Poland sequence, or Pectoral dysplasia-dysdactyly) was first described in 1841 by Alfred Poland, who was a medical student at Guy's Hospital in London when he noted malformations in the body of a deceased convict named George Elt. Today, the diagnosis of Poland anomaly may encompass various combinations of the following abnormalities:

absence of major chest muscles: pectoralis major, pectoralis minor
hand anomalies: syndactyly (webbed or fused fingers), shortened fingers
underdeveloped forearm bones: ulna, radius
underdeveloped or absence of the nipple and, in females, the breast
absence of groups of rib cartilage
absence of shoulder girdle muscles: latissimus dorsi, serratus anterior
underdeveloped skin and underlying tissue of the chest
abnormal curvature of the spine
patchy hair growth under the arm
rare associations with abnormalities in the heart, kidney or development of certain cancers

In most cases, physical abnormalities are confined to one side of the body and tend to favor the right side by almost two to one. The manifestations of Poland anomaly are extremely variable and rarely are all the features recognized in one individual. Involvement of the pectoralis muscle and fingers is the most consistent feature.

The exact cause of Poland anomaly is not known, but may result from the interruption of fetal growth at about the 46th day of pregnancy, when the fetal fingers and pectoralis muscle are developing. Several researchers have suggested that there may be too little blood flow through the fetal subclavian artery that goes to the chest and arm; the more severe the blood flow disruption, the more numerous and severe the resulting malformations. However, the final proof for this idea has not been found.

Genetic profile

Most occurrences of Poland anomaly appear to be sporadic (i.e., random, and not associated with a inherited disorder) and are not passed on from parent to child. However, there have been rare reports of Poland anomaly that appear in multiple members of the same family. In at least one case, this familial occurrence of Poland anomaly appears to be inherited in an autosomal dominant pattern. The fact that other organs systems (kidney, heart) and increased risks of certain cancers are associated with this condition supports the hypothesis that there may be some genetic abnormality. However, if there is some sort of genetic or inherited cause in some patients with Poland anomaly, it has not been identified. For purposes of genetic counseling , the Poland anomaly can be regarded as a sporadic condition with an extremely low risk of being transmitted from parent to child.

Demographics

Poland anomaly is not common. It affects one child in about 20,000 to 30,000. Geographically, estimates of the frequency range from one in 17,213 in Japanese school children, to an average of one in 32,000 live births in British Columbia, with a low incidence, one in 52,530, in Hungary. For reasons that are unclear, Poland anomaly is three times more frequent in boys than girls.

Signs and symptoms

The manifestations of Poland anomaly are most often limited to the physical manifestations described above. The degree to which this condition is disabling depends on which manifestations are present and their individual severity, but most often relate to disabilities in the affected arm and hand. Upon rare occasions, the Poland anomaly is associated with dextrocardia (the position of the heart is the mirror image of its normal position), renal agenesis (maldevelopment of the kidney) or the association with cancers such as leukemia, leiomyosarcoma and non-Hodgkin lymphoma. Intelligence is not impaired by Poland anomaly.

Diagnosis

The diagnosis of Poland anomaly relies on physical exam and radiographic evaluation, such as the use of x rays or other imaging techniques to define abnormal or missing structures that are consistent with the criteria for Poland anomaly, as described above. There is no laboratory blood or genetic test that can be used to identify people with Poland anomaly.

Treatment and management

During early development and progressing through until young adulthood, children with Poland anomaly should be educated and trained in behavioral and mechanical methods to adapt to their disabilities. This program is usually initiated and overseen by a team of health care professionals including a pediatrician, physical therapist, and occupational therapist. A counselor specially trained to deal with issues of disabilities in children is often helpful in assessing problem areas and encouraging healthy development of self-esteem. Support groups and community organizations for people with Poland anomaly or other disabilities often prove useful as well.

After growth development is advanced enough (usually late adolescence or early adulthood), reconstructive plastic surgery may be offered, primarily to correct cosmetic appearance. The goal of reconstruction is to restore the natural contour of the chest wall while stabilizing the chest wall defect. Chest wall reconstruction must be tailored to the requirements of each patient, but often involves moving and grafting ribs and muscles from other parts of the body to reconstruct the chest wall and breast. In addition, bioengineered cartilage or breast implants can be used to help give the chest a more normal appearance. Hand abnormalities are treated according to the severity, and requires individual consultation with a reconstructive plastic surgeon.

Prognosis

The prognosis for people with Poland anomaly is excellent. Reconstructive surgery is safe and cosmetic corrections achieved can be significant. Associated symptoms of heart and kidney defects as well as cancer association are rare, but indicate that patients with Poland anomaly should be followed closely by a physician familiar with the condition.

Resources

BOOKS

Canale, S.T. Campbell's Operative Orthopaedics. St. Louis: Mosby, 1998.

Sabiston, D.C. Textbook of Surgery. Philadelphia: W.B. Saunders, 1997.

PERIODICALS

Urschel, H.C. "Poland's syndrome." Chest Surgery Clinics of North America 10 (May 2000): 393–403.

ORGANIZATIONS

National Organization for Rare Disorders (NORD). PO Box 8923, New Fairfield, CT 06812-8923. (203) 746-6518 or (800) 999-6673. Fax: (203) 746-6481. <http://www.rarediseases.org>.