Poland syndrome is a rare congenital condition that causes missing or underdeveloped muscles on one side of the body. The symptoms may include the partial or complete absence of chest muscles and unusually short, webbed fingers on the same side of the body.
The symptoms of Poland syndrome can range from mild to severe. The treatment will depend on the type and severity of the person’s symptoms and how they affect different parts of the body.
Keep reading to learn more about the causes, symptoms, and treatment of Poland syndrome.
Poland syndrome is a congenital condition, which means that it is present at birth. It gets its name from Sir Alfred Poland, the surgeon who first wrote about the condition in 1841.
Experts believe that Poland syndrome affects between 1 in 10,000 and 1 in 100,000 people. However, it is possible that these figures may be higher due to cases going undiagnosed.
People with mild symptoms may not report a problem, while others, such as adolescent girls and women with an underdeveloped breast, may not seek advice until later in life. For this reason, experts think that more people — as many as 1 in 7,000 — may have the condition.
Experts do not know exactly what causes Poland syndrome. However, there is plenty of research to suggest that the underdevelopment of an artery during a critical period in fetal development may be the cause.
During the sixth week of fetal development in the uterus, major arteries and other blood vessels are already forming. Healthy muscle and tissue development depend on the blood flow through these arteries. If an artery forms incorrectly, it can interrupt the blood flow. This obstruction can affect how bones and tissues in the upper body form and develop.
Experts do not consider Poland syndrome itself to be an inherited condition. However, it is possible that family members share a genetic susceptibility to blood flow problems in early fetal development.
People with Poland syndrome may experience a range of different symptoms, depending on the severity of the condition.
A person with Poland syndrome may have all, or some, of the following symptoms, usually on one side of the body:
- underdevelopment (hypoplasia) or absence of chest muscles
- a chest that appears to curve inward, rather than outward, when breathing
- missing ribs, underdeveloped ribs, or ribs that have formed in the wrong place
- underdeveloped or absent breast, nipple, or areola (the pink or brown skin surrounding the nipple)
- abnormally short and webbed fingers
- abnormally small hand or shortened forearm
- patchy underarm hair growth
- unusually elevated or underdeveloped shoulder blade (scapula)
- a lump at the base of the neck due to the elevation of the shoulder blade
- spinal or kidney problems, although these are rare
Certain physical symptoms, such as underdeveloped or webbed fingers, will be obvious at birth. However, symptoms may sometimes be so mild that the condition goes undiagnosed until later in life.
People who suspect that they may have Poland syndrome should ask for a full physical examination from their healthcare provider. A doctor will look for signs of Poland syndrome and ask about any symptoms.
The doctor will also arrange for specialized tests to confirm the diagnosis. These may include CT scans, MRI scans, and X-rays. These tests will look at how the condition is affecting the body’s muscles and bones.
The treatment for Poland syndrome will differ from person to person, depending on the severity of the condition and the specific symptoms.
Treatment may include one or more of the following options.
Reconstructive (plastic) surgery
A plastic surgeon will rebuild the chest wall using existing chest wall muscles or muscles from elsewhere in the body. It is also possible to graft ribs into the correct place or correct abnormalities in the hands and arms with surgery.
Most commonly, plastic surgery will rebuild missing or underdeveloped breast tissue in females. A surgeon may combine breast surgery with surgery to reconstruct the chest wall. Any surgical treatment usually only takes place once the person with Poland syndrome has stopped developing physically. Waiting until then will help prevent asymmetry in the chest later.
People interested in these procedures should always discuss their treatment options with a surgeon who is familiar with reconstructive surgery in people with Poland syndrome.
The cost of surgery will depend on a combination of factors:
- the person’s insurance coverage
- the area of the body needing treatment
- the severity of the symptoms
Most private health insurance companies should cover the cost of reconstructive chest or breast surgery for a congenital condition because it is medically necessary.
Therapeutic tattooing can create a 3D appearance of a nipple and areola. An insurance provider, Medicare, or Medicaid may cover the cost of tattooing. However, coverage can vary widely among different insurance plans.
People who have reconstructive surgery may need physical therapy to build up their muscle strength and improve their range of motion. Physical therapy typically costs about $100 per session. An insurance provider, Medicare, or Medicaid may cover the cost, but this may vary widely.
Poland syndrome is a rare condition that is present at birth, but doctors may only diagnose it later in life.
Experts do not believe that it is an inherited condition. However, research suggests that it may be due to blood flow problems in early fetal development, and there is evidence to suggest that susceptibility to these problems may be genetic.
Common symptoms of Poland syndrome include the partial or complete absence of chest muscles and tissue, as well as abnormalities of the arms, hands, and fingers.
Treatment is likely to involve reconstructive surgery and then physiotherapy. The extent of the surgery will depend on the severity of the symptoms.