Poland syndrome (Poland sequence)

What is Poland syndrome (Poland sequence)?

Poland syndrome – also known as Poland sequence – is a congenital (present at birth) disorder. The main characteristic of Poland syndrome are underdeveloped muscles on one side of the body, which results in problems with the chest, shoulder, arm or hand on that side of the body.

A child can be affected by Poland syndrome in various ways depending on the degree of severity of the condition. Some children have only a mild asymmetry of their chest and may not even know they have Poland syndrome.

In the most severely affected patients, diagnosis is usually soon after birth and may require early treatment for the underdeveloped hand or to correct breathing difficulties due to the incomplete rib cage.

• Female patients - there is often underdevelopment of the breast on the affected side, which is the most common reason that patients with Poland syndrome consult a plastic surgeon. With increasing severity of the condition, the other part of the pectoralis major muscle can be missing and, in the more severe cases there can be other missing muscles between the chest or back and the arm, the skin and fat over the chest can be thin and patients can have a missing shoulder blade or missing ribs which can lead to breathing difficulties.

• Hands and arms can be underdeveloped, not only in terms of the length of the upper arm, forearm, hand or fingers, but also because the fingers can fail to separate well. Although a wide variety of hand problems can be found with Poland syndrome, the most common is brachysyndactyly in which the fingers are short and partially joined together.

Other related conditions

Poland Syndrome is most commonly the only problem affecting a patient, but it can be found together with dextrocardia, in which the heart lies on the right side of the body rather than the left, Moebius Syndrome, or underdevelopment of the kidneys or the feet.

Risk factors

As the extent of Poland Syndrome is so variable, nobody is entirely sure how common the condition is, but it is most likely to occur in about 1 in 25,000 people.

It is three times as common in boys as in girls, and is more common on the right side than on the left. The condition was first described by Alfred Poland, in London, in 1841.

What are the different types of Poland syndrome (Poland sequence)?

There are no distinct types of Poland syndrome, as there is a continuous spectrum of severity of the condition and its impact on patients. It is, however, helpful to consider Poland syndrome in terms of what it affects.

In almost everyone with the condition, there is underdevelopment of the main ‘pec’ muscle, the pectoralis major. This muscle has two parts: one that connects the clavicle or collar bone to the upper arm and another that connects the sternum or breast bone to the upper arm.

The most common developmental problem in Poland syndrome is that the sternal head connecting the breast bone to the upper arm is missing. This has the effect of giving an asymmetry in the upper chest, where this muscle would normally be, but this muscle is also responsible for giving the shape of the fold of skin separating the upper chest from the armpit, the anterior axillary fold. As a result of this missing fold, the definition of the side of the upper chest is altered, and this is a common complaint among patients with Poland syndrome.

What are the signs and symptoms of Poland syndrome (Poland sequence)?

Signs and symptoms of Poland syndrome – as well as the severity of the condition – vary from person-to-person, even within the same family. Though the condition usually appears sporadically and is not passed down in families, sometimes multiple members of the same family have the disorder.

Signs and symptons of Poland syndrome include:

• Abnormalities of the lung or kidney on the affected side

• Brachydactyly (hand that didn’t properly develop, including short fingers)

• Chest that appears concave (curves inward) on one side

• Heart that is abnormally located in the right side of the chest (dextrocardia)

• Ribs that are visible due to little fat under the skin

• Short forearm

• Shortened ribs

• Syndactyly (two or more fingers fused together)

• Underarm hair that is sparse or unusually placed

What are the causes of Poland syndrome (Poland sequence)?

The exact cause is also not known for sure, but it is likely to be due to a temporary blockage of the blood supply of the arm during development. As a result of that lack of blood supply, the muscles connecting the chest to the arm do not develop as they should, and the arm and hand itself can also not develop well.

How is Poland syndrome (Poland sequence) treated?

Especially in treating children with Poland syndrome, it is important to personalize treatment to take into account not only the extent of the condition and how the individual patient is affected, but also to look ahead to how that child will grow and develop over time. We offer a wide variety of treatment options for Poland syndrome. Often the best option for patients is not to treat this condition with surgery.

A good physician-patient relationship throughout childhood and puberty is very important in Poland syndrome in order to plan the right treatment at the best age. For example, we would not want to undertake any surgery for chest asymmetry of a female patient until puberty is complete, as surgery to this area may lead to further problems with breast development.

Females

For asymmetry or underdevelopment of the breast, we can offer breast augmentation either with an implant or with the patient’s own fat from elsewhere. Usually an implant is required but breast augmentation for Poland syndrome is more difficult than in a patient without this condition as there is often not enough breast and fat tissue to place an implant directly behind the existing breast tissue, and the muscle that plastic surgeons would normally use to camouflage the implant in this situation is missing in Poland syndrome. It may be necessary to move a muscle from the back into the chest to cover the implant to give the best result.

For contour problems in the chest due to the missing muscle, we can offer various options for filling the contour including custom made implants, fat transferred from another part of the body, or for very mild asymmetry, filler material injected through the skin. Often the best results are obtained by using a combination of a custom made implant covered by a muscle, transferred from the back. This muscle can also be used to re-create the fold of skin between the chest and the armpit, the anterior axillary fold.

Hand and finger underdevelopment

For hand and finger underdevelopment, we have specialist congenital hand surgeons, who can assess and advise on the best plan for providing the most useful hand. This may include procedures at various ages to separate or to lengthen fingers, in combination with hand therapy, which we provide.

Aftercare

Aftercare is also particularly important if implants are used. Even many years after surgery, these can become infected, can shift position or rotate, can form a hard or painful capsule around them or can even come through the skin. They will not grow or change as the patient’s body changes with age, so an implant which once gave good symmetry may not give good symmetry forever. In these cases, further surgery is likely to be required. The chest, especially, is an area that changes dramatically in both sexes during adolescence and it is important that any treatment for Poland syndrome is planned to give the best long-term result into adulthood.

At Children’s Health, we can offer a full multidisciplinary team approach to the treatment of children with Poland’s syndrome including pediatric plastic surgeons, experienced in treating Poland syndrome, pediatric cardiothoracic surgeons who may be required if the ribcage is inadequate, congenital hand surgeons and hand therapists who can get the best function from an underdeveloped hand, and clinical psychologists who can help children with any problems they face as a result of this condition.