Poland syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at August 17, 2016
StartDiseasesPoland syndrome

Poland syndrome is a rare congenital disorder or birth defect that is usually noticed because of a malformation of the chest and hand on one side of the body. It can be on either side of the body but most often affects the right side of the body.

Contents

Definition & Facts

It was named for Sir Alfred Poland the 19th-century British anatomist who first described the syndrome when doing a dissection on a convict known as George Elt. George Elt was unable to extend his hand across his chest. Poland preserved Elt's hand for posterity, and it remains in Guy's Hospital museum to this day. In 1962 Patrick Clarkson noticed that three of his patients had a similar deformity.

The actual cause of Poland syndrome is not the only unknown fact about it. Because it seems to often be misdiagnosed or underreported, the incidences reported vary from one in 10,000 to one in 100,000 live births. However, we do know that it occurs more than three times as often in boys than in girls.

Symptoms & Complaints

Some of the more common symptoms of Poland syndrome include:

  • There is often underdevelopment or absence of the muscles of the chest wall on one side of the body. This is usually the sternal portion of the pectoralis major muscle which is the large muscle going from the breastbone to the collarbone and the cartilage going to ribs 1-6. This muscle functions to move the arm across the body.
  • There may also be an absence of the pectoralis minor muscle that is under the pectoral major and runs from ribs 3-5 to rotate the shoulder blade.
  • Another common symptom is the webbing of the fingers (syndactyly) on the hand on the same side of the body.

Other symptoms, though not as common, may be:

  • The absence or underdevelopment of other muscles on the same side of the body, such as the large muscles of the back or a muscle which extends from the ribs under the arm to the scapula.
  • There can be an absence or underdevelopment of the areola, the nipple or abnormal hair growth on the underarm.
  • Females may also have an underdeveloped or absent breast on this side.
  • Limited use of the arm on the affected side.
  • Upper ribs and cartilage may be underdeveloped or absent
  • Some fingers may be short or missing on the affected side.

There are other disorders that have similar symptoms but differ from Poland syndrome in one or more ways. Some of these related disorders include: Moebius Syndrome, Oromandibular-limb Hypogenesis syndrome or Charlie M syndrome.

Causes

The cause of Poland syndrome is not known, but the most popular theory seems to attribute it to a lack of blood flow to the arteries under the collarbone or the arm during the sixth week of the development of the fetus. The exact time of this reduced blood flow, the area to which the blood was restricted, and the severity of the restriction could account for the vast range of signs and symptoms that have been seen.

Some hypothesize that underlying ribs on the affected side grow too quickly and reduce the blood flow to the involved muscles. Others attribute it a malformation of the blood vessels to this side of the body in the embryo. These are all theories and there is no definitive cause as of this date.

Occasionally, though seldom, Poland syndrome may appear in more than one individual in a family. This gives rise to the question of whether it might be an inherited trait. If so, the mode of genetic transmission has yet to be determined.

Diagnosis & Tests

Often Poland syndrome will be obvious in a newborn by visual inspection via a physical examination. In milder cases, it may not become obvious until the child matures more or reaches puberty, at which time the underdeveloped muscles will be more obvious especially in a girl's breast development. Once it is visually noticed, X-rays, CT scans, and magnetic resonance imaging (MRI) studies will need to be done to determine how much of the area is affected. Also, the lymph nodes should be examined as well as the blood cell count to determine if leukemia and non-Hodgkin's lymphoma are present.

Treatment & Therapy

The standard treatment is surgery. The type and extent of the surgery will be dependent upon the severity of the syndrome. Often, the reconstructive surgery may use existing chest muscle or a transplant from another body to attain symmetry between the two sides of the chest.

If the pectoral muscles are completely missing, a custom implant made of medical silicone unbreakable rubber may be constructed and will be inserted. Males may be eligible candidates for the reconstructive surgery at as young as thirteen, but females are usually advised to wait until breast development is complete on the unaffected side.

When necessary, the appearance of an areola and a nipple can be tattooed on. A second surgery is sometimes required in women to implant a breast or to lipofill. In most cases, pain is minimal. The stitches are dissolvable and the area will only require a dressing for eight days and/or a compression bra for fifteen days. The surgery is generally done by a plastic surgeon.

Physical therapy may also be prescribed. Genetic counseling may be recommended for the patient and/or his family because of the slight risk of it being inheritable.

Prevention & Prophylaxis

Because Poland syndrome is most commonly believed to be caused by an interruption of blood supply to the chest area in the sixth week, or approximately the 46th day, of embryonic development, very little is known regarding what could be done to prevent it. Expectant parents will be advised to ensure the mother is as stress-free and healthy during pregnancy as possible.