Causes, Signs, and Treatment of Poland Syndrome

Poland syndrome, also known as Poland anomaly or Poland syndactyly, is a rare condition in which a person is born with underdeveloped chest muscles on one side of their body. The condition can also have a range of other symptoms affecting the muscles, bones, and soft tissues throughout the body. Research on the condition is ongoing and much remains unknown.

Main Symptoms

The symptoms and effects of Poland syndrome can vary in severity. Its characteristic symptoms include an underdeveloped or completely absent chest muscle and webbing of the hands and fingers on the affected side. Usually, the end of the chest muscle that connects to the breastbone is missing, as are the nipple, areola, and subcutaneous chest fat.

Additional Symptoms

In addition to the more typical symptoms, Poland syndrome can cause a wide range of other effects. Usually, these signs involve atypical development of the organs, limbs, or genitals. Small kidneys and disproportionately small hands are among the most prevalent. Other possible symptoms include atypical fingerprints, small skulls, absent ribs, nearsightedness, and shorter necks.

Cause

The cause of Poland syndrome is unknown. Based on the evidence, experts believe it stems from vascular and lymph system issues during the sixth week of fetal development. Some speculate that there is an interruption of the blood supply to the arteries underneath the collarbone. Others believe that these arteries form in a unique manner that enables less blood to travel to that side of the body.

Inheritance

Poland syndrome is an inheritable condition, though inheritance is rare. It is usually sporadic, meaning it is not likely to recur in a family. Additionally, experts have been unable to identify any genes responsible for inheritability. Researchers believe Poland syndrome inheritance stems from susceptibility to events like blood flow interruptions.

Diagnosis

Doctors may identify and diagnose Poland syndrome as early as birth or as late as adolescence, depending on the condition’s severity. Imaging tests such as MRIs, CT scans, and x-rays can help doctors see which muscles are affected and locate any atypical developments. If a person has mild symptoms, Poland syndrome may not be noticeable until puberty.

Treatment and Surgery

Treatment of Poland syndrome depends on a person’s specific symptoms. Reconstructive surgery is often the best option, usually using existing muscles to rebuild the chest. If there is not enough muscle for surgery, surgeons may take it from other parts of the body. Males can usually undergo reconstructive surgery earlier than females.

Newer Treatment Methods

Using a medical scanner, experts can design a custom implant that perfectly adapts to a patient’s anatomy. While this does not make up for the imbalance in upper body strength, it allows a wider variety of patients to receive treatment. Lipomodelling, a procedure that relocates fat, is also becoming a popular treatment for Poland syndrome.

Syndactyly

Many people with Poland syndrome have syndactyly of the fingers, meaning that soft tissue has fused together. This is commonly known as webbed fingers. Without treatment, syndactyly can impair finger growth and limit hand function. Surgeons can separate the fingers to limit the side effects, but they must do this early in the child’s life.

Statistics

Researchers believe that Poland syndrome is both under-diagnosed and under-reported, which makes it difficult to determine the condition’s exact incidence. Males tend to go undiagnosed if they have minor symptoms. Experts believe that the incidence may range from 1 in 7,000 to 1 in 100,000, though most tend to estimate about 1 in 30,000. Males appear to develop the condition more frequently than females.

Notable People

A few notable athletes and other celebrities have Poland syndrome. Actor Ted Danson is perhaps the most famous example. Olympic boxer Jérôme Thomas lacks a left pectoral muscle and his left hand and arm are significantly smaller than those on his right. Professional golfer Bryce Molder also lacks a left pectoral muscle and has a smaller left hand.