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What Is Poland Syndrome?

Medically Reviewed by Dany Paul Baby, MD on April 21, 2022

Poland syndrome occurs in childhood when your child is born with missing or underdeveloped chest muscles. Typically, only one side of the body is affected.   

Poland syndrome is a rare medical condition observed in 1 in 20,000 newborns. Males are twice as likely to be affected by this condition. 

This condition is often underdiagnosed, though, and many mild cases don’t require medical attention.

Poland syndrome varies in severity, though. Below, you'll learn more about identifying the condition and helping children manage the syndrome. 

Poland Syndrome Background

Poland syndrome, or the Poland anomaly, was named after Sir Alfred Poland. The condition is characterized by underdeveloped or missing chest muscles and webbed fingers on only one side of the body. This condition is uncommon but can be present at birth. 

Babies born with Poland syndrome typically have a portion of their breastbone of the pectoralis missing. The severity of Poland syndrome varies from person to person, and the condition's rarity means there's still much to be learned about the condition. 

Poland syndrome is more common in boys than girls, and the right side is affected twice as often as the left side is affected. The reasons for this have not been definitively uncovered. 

This condition has been recognized for a long time, but its rarity makes it difficult to conduct full studies. This leads many to speculate about the causes, though most researchers agree that it's tied to fetal development in the womb. 

What Does Poland Syndrome Look Like?

Poland syndrome can manifest in different physical and cosmetic ways. Sometimes, these abnormalities can go unnoticed and untreated. 

Signs to look for in children include: 

  • Absence of some chest muscles
  • The end of the main chest muscle is missing
  • Underdeveloped or missing nipples and areola
  • Short, possibly webbed fingers
  • Missing armpit hair
  • Underdeveloped or missing upper rib cage
  • Rare spine or kidney problems

In severe cases of Poland syndrome, the spine can be fused or malformed. This can lead to thoracic deformations and respiratory challenges. 

Certain bone defects could be present in people with Poland syndrome. This includes an underdeveloped or absent portion of ribs and cartilage where the ribs attach to the sternum. This abnormality can make breaking and normal lung function difficult. 

Other rare cases involve an elevated or underdeveloped shoulder blade. This can cause limited movement in the arm on the affected side. This abnormality of the shoulder blade can also cause a lump to form at the base of the neck due to the elevation of the shoulder blade. 

Hand abnormalities are another sign of Poland syndrome. Typically, this syndrome can be identified by an underdeveloped hand on the affected side. In some cases, the fingers might be fused in a web-like fashion. 

In mild cases, this hand abnormality is not easily recognized. In more severe cases, this condition can cause problems with your hand, making you unable to use it. 

Other signs of Poland syndrome include a shortened forearm. 

Poland Syndrome Symptoms

Poland syndrome can be considered mild, moderate, or severe. 

Mild signs. These include the absence of the nipple or portions of the breast. 

Moderate signs. This syndrome level includes a more extensive absence of chest muscles. 

Severe signs. The severity of the Poland syndrome also includes the absence of muscle in the chest. It also manifests as abnormalities in the ribcage bones. Other chest wall deformities may be present, including: 

In some cases, Poland syndrome can be identified at birth. In other cases, the condition may not be noticed until puberty. 

Puberty can emphasize the differences between the two sides of the body. In girls, they may notice a significant difference in the development of their breasts. There may be a concave or noticeably absent muscle formation on one side of the body in boys. 

If Poland syndrome is severe, hand and arm abnormalities can occur earlier in life. This promotes earlier diagnosis and treatment.

Poland Syndrome Causes

There’s no known cause of Poland syndrome. However, some researchers believe it could be due to a blockage of blood flow during development. In the womb, your baby might not get blood flow to their shoulder, arm, or hand muscles, causing this condition. 

Research has supported the idea that this blockage or development problem most often occurs in the sixth week of pregnancy. The event is likely connected to the blood and lymph vascular system.

Poland syndrome is also referred to as Poland sequence on occasion because there is a pattern of malformations detected from the primary defect. Poland syndrome is believed to be tied to impaired development of a specific artery or other interrupted blood flow during embryonic growth. The specific pattern of the defects is believed to depend on the site and the amount of decreased blood flow. 

Diagnosing Poland Syndrome

Poland syndrome can be diagnosed as early as birth, or it may not occur until childhood or puberty. Poland syndrome can be diagnosed via clinical evaluations and specialized tests. 

These tests include: 

X-Rays are great at identifying any type of abnormality in the hand, forearm, ribs, or shoulder blades.  

If you notice abnormalities in your child's chest, arms, shoulders, or neck as they get older, you should talk to your doctor. They'll be able to run more tests and do physical exams. 

When trying to diagnose or look for related syndromes, your doctor may also order tests, including: 

These tests are done to check the overall heart and lung function. Genetic testing will help your doctor know if other conditions related to Poland syndrome could be present or appear. 

Poland Syndrome Treatment

Poland syndrome treatment will depend on the severity of the condition. Types of treatment include: 

  • Implants
  • Injections
  • Hand surgery
  • Rib surgery to help with breathing problems

Reconstructive surgery is the most common treatment for Poland syndrome. This surgery uses existing chest muscles to help rebuild the chest. Muscle can also be taken from other parts of the body if needed. This type of surgery can be done in males as young as 13 years of age. The surgery is recommended for females after breast development is complete. 

Reconstructive surgery has emotional benefits as well. Teens who are hyperaware of their physical development and differences can become self-conscious or develop other psychological issues.

Plastic surgery is also an option for males and females who want to change their physical appearance. Plastic surgery can entail botox and other injections to plump up areas where the muscle is missing. Breast implants are an option. Plastic surgery can construct a breast mound for females. For males, plastic surgery can also rebuild the chest wall.

You should have open conversations with your child and their doctor about what will make them feel the best.  

Poland syndrome treatment is done to treat apparent symptoms specific to each individual. Depending on the severity of the condition, treatment may need a whole team of specialists. These specialists include: 

  • Plastic surgeons
  • Physical therapists
  • Genetic counselors

Other types of treatment for this syndrome include supportive and symptomatic counseling. 

How Serious Is Poland Syndrome?

In cases of mild Poland syndrome, your child can typically go their whole life without treatment. The level of treatment required is wholly dependent on the severity of the condition. 

If the Poland syndrome causes noticeable deformities, though, this can lead to problems with your child’s physical or emotional wellbeing. 

Poland syndrome has also been associated with other conditions, including: 

When these conditions are present, they can cause more challenges than the physical abnormalities of Poland syndrome.

When to Get Help

If you notice your child acting self-conscious about their appearance or abnormalities in their body around puberty, you may want to talk to their doctor. 

Talking to a doctor and getting a proper diagnosis can help overcome self-conscious feelings. Your doctor can also set up a treatment plan or monitor the condition and determine if treatment will be needed later. 

Children may compare themselves to their friends or peers as children grow up. This can lead to other emotional problems if they don't feel like they fit in. If your child is struggling with their looks and development, you can also talk to a psychiatrist or therapist. 

Cognitive-behavioral therapy or talk therapy can be beneficial for teens as their body changes. They may be dealing with other things at school or in friend groups that talking therapy could also help with. 

If your child is still developing and your doctor wants you to wait on treatment, this would be a great time to talk to a therapist. They can help your child work through body image issues. This can be very beneficial to your child's mental and emotional development as they get older.

Show Sources

SOURCES:

GARD: “Poland syndrome.”

KidsHealth: “Chest Wall Disorder: Poland Syndrome.”

MedlinePlus: “Poland syndrome.”

NIH: “About Poland Anomaly.”

NORD: “Poland Syndrome.”

Orphanet Journal of Rare Diseases: “Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).”

WakeMed: “Poland’s Syndrome.”

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