Poland syndrome has been associated with other syndromes, including Moebius syndrome (congenital bilateral facial paralysis with inability to abduct the eyes) and Klippel-Feil syndrome. Also, some blood malignancies, including leukemia and non-Hodgkin lymphoma, have been described in patients with Poland syndrome.
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||-|
During the examination, the stage of breast development and of the latissimus dorsi muscle (one of the largest muscle of the back) should be noted. Other exams may be needed to rule out other problems such as Moebius syndrome.
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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