Poland Syndrome

What It Is, Causes, Signs and Symptoms, Treatment, and More

Author: Emily Miao, MD, PharmD

Editor: Alyssa Haag, MD

Editor: Ian Mannarino MD, MBA

Editor: Kelsey LaFayette, DNP, ARNP, FNP-C

Illustrator: Abbey Richard, MSc

Modified: Jan 06, 2025

What is Poland syndrome?

Poland syndrome, also known as “Poland anomaly” or “Poland sequence,” is a rare congenital condition in which an individual is born with a variety of musculoskeletal abnormalities on one side of the body, most commonly the right side. These abnormalities include underdeveloped pectoral muscles or the complete absence of the pectoralis muscles like the pectoralis major muscle; underdeveloped breast and/or nipple tissue; and absence of cartilage surrounding the rib cage resulting in a chest wall deformity. To date, approximately 400 cases of Poland syndrome have been reported in the literature and its associated structural anomalies vary in degrees of severity and functional impairment. Poland syndrome is estimated to affect somewhere between 1 in 10,000 and 1 in 100,000 births. It is more common in those assigned male at birth and affects the right side of the body twice as often.

An infographic background, causes, signs and symptoms, diagnosis, and treatment of Poland syndrome.

What causes Poland syndrome?

While the exact mechanisms of Poland syndrome are poorly understood, it is thought to be related to disruptions in embryonic development, primarily during the sixth week of fetal development. At six weeks gestation, the arms and legs of the fetus, known as limb buds, begin to form. It is hypothesized that disruption of blood flow to the subclavian artery (i.e., an artery that lies underneath the clavicle, or collarbone, and supplies blood to the head, neck, and upper body structures) during this critical period leads to hypoxia to the limb buds and subsequently, underdevelopment of various tissues on one side of the body.

What are the signs and symptoms of Poland syndrome?

Signs and symptoms of Poland syndrome commonly include absent (i.e., aplasia) or underdeveloped (i.e., hypoplasia) chest muscles on one side of the body. The absence of chest muscles (e.g., pectoral muscles), which normally attach to the breastbone, results in a chest wall deformity. Individuals may also have digital abnormalities (e.g., abnormally short, webbed fingers, known as syndactyly) ipsilateral (i.e., same side) to the affected side of the chest wall. The nipple and areola are often underdeveloped in genetic females which extends to the surrounding breast tissue on the affected side of the body. Other associated features include scant or missing axillary hair, thinned skin, underdeveloped upper arm muscles, and missing ribs on the affected side. Despite missing individual ribs, most individuals do not experience any associated respiratory symptoms. However, paradoxical breathing, which is when the abdomen is drawn inwards during inhalation and the abdomen is pushed outward during exhalation, may be observed.

How is Poland syndrome diagnosed?

Diagnosis of Poland syndrome begins with a thorough review of symptoms and medical history. Depending on its severity, Poland syndrome may go undetected until adolescence if symptoms and structural deformities are mild. During puberty, there is significant growth of secondary sex characteristics, muscles, and bone, which may highlight differences between the two sides of the body. For example, there may be noticeable differences in breast and nipple tissue for genetic females during puberty. In severe cases, hand and digit abnormalities (e.g., syndactyly) may be more apparent before puberty. The diagnosis is confirmed with imaging tests such as computed tomography scan (CT scan), magnetic resonance imaging (MRI), or X-rays. These imaging studies allow for a detailed evaluation of surrounding soft tissue and bony structures, to identify any abnormalities in the fingers, hands, ribs, and shoulder blades seen in Poland syndrome.

How is Poland syndrome treated?

Management of Poland syndrome includes an approach that addresses the physical abnormalities and the associated psychological impact they may have on the individual. The mainstay of treatment is reconstructive surgery or plastic surgery, aimed at correcting any physical deformities and rebuilding the chest wall muscles. Since certain muscles are missing or underdeveloped in Poland syndrome, muscle grafts can be taken from other intact body parts, commonly the latissimus dorsi (i.e., back muscles) to reconstruct the chest wall. Surgery is often performed after puberty, especially in genetic females, when breast development is complete. In cases where there is missing breast tissue, breast reconstruction can be accomplished using silicone- or saline-filled breast implants. A referral to a physical and occupational therapist may help assist individuals in adapting to daily activities and to increase functionality despite the physical abnormalities. Finally, individuals with Poland syndrome may experience reduced quality of life and poor self-esteem due to their physical differences. Therefore, individuals may benefit from education, counseling, and additional psychosocial support to help address body image concerns and to provide empowering coping strategies.

What are the most important facts to know about Poland syndrome?

Poland syndrome also known as “Poland anomaly” or “Poland sequence” is a rare congenital condition in which an individual is born with a variety of musculoskeletal abnormalities on one side of the body. Poland syndrome is thought to be related to disruptions in embryonic development, primarily during the sixth week of fetal development, when limb buds begin to form. It is hypothesized that disruption of blood flow to the subclavian artery during this period leads to hypoxia to the limb buds and subsequently, underdevelopment of various tissues on one side of the body. Signs commonly include absence or underdeveloped chest muscles on one side of the body, chest wall deformity, hand and finger abnormalities, and underdeveloped nipple and breast tissue. The diagnosis is confirmed with imaging tests such as computed tomography scan (CT scan), magnetic resonance imaging (MRI), or X-rays. The mainstay of treatment includes reconstructive surgery or plastic surgery to correct the physical abnormality, physical and occupational therapy to help individuals improve functional status, and psychosocial support.

References

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Czeizel A, Vitéz M, Lenz W. Birth prevalence of Poland sequence and proportion of its familial cases. Am J Med Genet. 1990;36(4):524. doi:10.1002/ajmg.1320360435

David TJ. Nature and etiology of the Poland anomaly. N Engl J Med. 1972;287(10):487-489. doi:10.1056/NEJM197209072871004

Fodor PB, Khoury F. Latissimus dorsi muscle flap in reconstruction of congenitally absent breast and pectoralis muscle. Ann Plast Surg. 1980;4(5):422-425. doi:10.1097/00000637-198005000-00010

Romanini MV, Calevo MG, Puliti A, et al. Poland syndrome: A proposed classification system and perspectives on diagnosis and treatment. Semin Pediatr Surg. 2018;27(3):189-199. doi:10.1053/j.sempedsurg.2018.05.007

Gausewitz SH, Meals RA, Setoguchi Y. Severe limb deficiency in Poland's syndrome. Clin Orthop Relat Res. 1984;(185):9-13.

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Yiyit N, Işıtmangil T, Öksüz S. Clinical analysis of 113 patients with Poland syndrome. Ann Thorac Surg. 2015;99(3):999-1004. doi:10.1016/j.athoracsur.2014.10.036