Signs and symptoms of Poland syndrome may be slight to severe. Some people with Poland syndrome have only absence of the breast tissue, while others may be missing all or part of the chest muscle and underlying ribs. Symptoms tend to occur on one side of the body. Below we have listed symptoms that can be found in this condition:
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Aplasia of the pectoralis major muscle||90%|
|Aplasia/Hypoplasia of the nipples||90%|
|Asymmetry of the thorax||90%|
|Abnormality of the humerus||7.5%|
|Abnormality of the liver||7.5%|
|Abnormality of the lower limb||7.5%|
|Abnormality of the ribs||7.5%|
|Abnormality of the sternum||7.5%|
|Abnormality of the ulna||7.5%|
|Aplasia/Hypoplasia of the radius||7.5%|
|Aplasia/Hypoplasia of the thumb||7.5%|
|Congenital diaphragmatic hernia||7.5%|
|Low posterior hairline||7.5%|
|Neoplasm of the breast||7.5%|
|Reduced bone mineral density||7.5%|
|Situs inversus totalis||7.5%|
|Abnormality of the breast||-|
|Absence of pectoralis minor muscle||-|
|Autosomal dominant inheritance||-|
|Hypoplasia of deltoid muscle||-|
|Hypoplasia of latissimus dorsi muscle||-|
|Hypoplasia of serratus anterior muscle||-|
|Unilateral absence of pectoralis major muscle||-|
|Unilateral hypoplasia of pectoralis major muscle||-|
In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
I have Poland syndrome. I have a support group here in the U.S. and I also belong to one in the UK. Are there any numbers to report on just how many people in the U.S. have Poland syndrome? See answer
I am a 46 year old female who was born with Polands Syndrome. I was missing the upper ribs and the chest wall on my right side. As a result I am now facing multiple spinal problems and am looking for the correct treatment by the correct specialists. How do I go about finding spine specialists who have worked with this condition? See answer
I was diagnosed with Poland syndrome at age 28. A tumor has been found on my liver, and the MRI result was "suspected hemangioma benign tumor." Is this common in people with Poland syndrome? I would also be grateful for any other information about Poland syndrome. See answer
I recently gave birth to a beautiful baby girl. She was born without her right pectoral muscle and has been diagnosed with Poland syndrome. Upon researching this condition, I have learned that her right breast probably won't develop. While this may not be of concern right now, it will someday be important. Could you please provide me with information about this condition? I am interested in learning more about the causes, symptoms and treatment. See answer
What is Poland syndrome? Does this condition cause physiologic functional impairment? See answer