Poland Syndrome

What happens in Poland syndrome

The condition is named after Alfred Poland, a British surgeon who described it in 1841. The leading theory is that, around the sixth week of pregnancy, blood flow through the subclavian artery, which supplies the developing chest and arm on one side, is reduced. This affects how muscles, bones and skin form on that side. Most cases occur by chance, and the chance of it recurring in a family is low, though rare familial cases are reported.

Features

Chest

• missing or underdeveloped pectoralis major, especially the lower (sternocostal) part, causing a flat chest and a raised fold at the front of the armpit
• other chest and shoulder muscles may also be underdeveloped
• ribs may be short, malformed or missing in more severe cases, sometimes causing a soft area where the chest wall moves inward with breathing
• reduced fat and hair on that side of the chest

Breast and nipple

• small, absent or higher-placed nipple
• in girls, the breast on the affected side may be small or not develop at all (breast size differences)

Hand and arm

• short fingers (brachydactyly)
• webbed fingers (syndactyly)
• missing fingers in some cases
• a shorter forearm or hand on the affected side

Other

• scoliosis
• rarely, kidney differences or heart position changes on the right side

Severity varies from a barely noticeable difference in chest muscle to significant chest wall and hand involvement.

Diagnosis

Poland syndrome is usually recognized at birth or in early childhood from the flat chest and hand differences, but mild cases may not be noticed until puberty, when the breast or chest muscle difference becomes obvious.

Tests may include:

• X-rays of the chest and hand
• CT or MRI of the chest wall to plan surgery
• ultrasound of the kidneys
• heart evaluation if indicated

Treatment

Treatment depends on symptoms, function and personal preference.

Hand

Surgery to separate webbed fingers or improve hand function is usually done in early childhood, often between 1 and 2 years of age, followed by hand therapy.

Chest wall

• reconstruction of rib defects if there is a soft area of chest wall or protection is needed
• muscle transfer, often using the latissimus dorsi muscle from the back, to recreate chest shape
• custom silicone implants, 3D-printed to fit, or fat grafting to restore contour

Cosmetic chest reconstruction is usually delayed until growth is complete.

Breast

For girls and women, breast reconstruction with tissue expanders, implants, fat grafting or muscle flaps can create symmetry, typically after breast development finishes. Temporary external prostheses can be used in the teen years.

Support

Physical therapy can strengthen surrounding muscles. Psychological support helps children and teens with body image concerns, especially during puberty.

Outlook

Most people with Poland syndrome lead healthy, active lives with normal life expectancy. The missing muscle usually causes little loss of strength because other muscles compensate. Reconstructive surgery can greatly improve appearance and confidence.

Frequently asked questions

What is Poland syndrome?

Poland syndrome is a rare birth difference in which the large chest muscle is missing or underdeveloped on one side. It often occurs with hand differences such as short or webbed fingers, and an underdeveloped breast or nipple on the same side.

What causes Poland syndrome?

The cause is not fully known. The leading theory is that blood flow to one side of the chest and arm is interrupted early in pregnancy, affecting tissue development. It is usually not inherited and occurs by chance.

How is Poland syndrome treated?

Treatment is based on function and appearance. Children may have hand surgery to separate webbed fingers. After growth, chest wall reconstruction with muscle transfers, implants or fat grafting, and breast reconstruction in women, can improve symmetry.

Does Poland syndrome affect strength?

Usually only slightly. Other muscles compensate, so most people have nearly normal strength and can play sports. Some may notice reduced pushing strength or shoulder movement on the affected side.

Is Poland syndrome hereditary?

Rarely. Most cases are sporadic, with no family history, and the chance of passing it on is low. A few families with more than one affected member have been reported, so genetic counseling can be offered.