National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Poland syndrome

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Other Names:
Poland anomaly; Poland syndactyly; Poland sequence; Poland anomaly; Poland syndactyly; Poland sequence; Unilateral defect of pectoralis muscle and syndactyly of the hand; Poland's syndrome See More
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Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.[1][2]
Last updated: 10/5/2016
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:[1] 
  • Absence of some of the chest muscles. 
  • The end of the main chest muscle, where it attaches to the breastbone, is usually missing. 
  • The nipple, including the darkened area around it (areola) is underdeveloped or missing; in females, this may extend to the breast and underlying tissues.
  • Abnormally short and slightly webbed fingers.
  • Often, the armpit (axillary) hair is missing.
  • The skin in the area is underdeveloped (hypoplastic) with a thinned subcutaneous fat layer. 
  • The upper rib cage can be underdeveloped or missing, Sometimes the shoulder blade or bones of the arm are also involved, Rarely, spine or kidney problems are present.

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.[3]

Last updated: 10/5/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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HPO ID
80%-99% of people have these symptoms
Absence of subcutaneous fat
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ] 		0007485
Aplasia of the pectoralis major muscle 0009751
Aplasia/Hypoplasia of the breasts
Absent/small breasts
Absent/underdeveloped breasts
[ more ] 		0010311
Aplasia/Hypoplasia of the nipples
Absent/small nipples
Absent/underdeveloped nipples
[ more ] 		0006709
Asymmetry of the thorax
Asymmetric chest
0001555
30%-79% of people have these symptoms
Finger symphalangism
Fused finger bones
0009700
Renal hypoplasia
Small kidneys
Underdeveloped kidneys
[ more ] 		0000089
Small hand
Disproportionately small hands
0200055
Unilateral brachydactyly 0006008
5%-29% of people have these symptoms
Abnormal dermatoglyphics
Abnormal fingerprints
0007477
Abnormality of the humerus 0003063
Abnormality of the liver
Abnormal liver
Liver abnormality
[ more ] 		0001392
Abnormality of the lower limb
Lower limb deformities
0002814
Abnormality of the outer ear
Abnormality of the external ear
Ear anomalies
External ear malformations
Outer ear abnormality
[ more ] 		0000356
Abnormality of the ulna 0002997
Absent hand 0004050
Acute leukemia 0002488
Aplasia/Hypoplasia of the radius 0006501
Aplasia/Hypoplasia of the sternum
Absent/small sternum
Absent/underdeveloped sternum
[ more ] 		0006714
Aplasia/Hypoplasia of the thumb
Absent/small thumb
Absent/underdeveloped thumb
[ more ] 		0009601
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Cone-shaped epiphysis
Cone-shaped end part of bone
0010579
Congenital diaphragmatic hernia 0000776
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Dextrocardia
Heart tip and four chambers point towards right side of body
0001651
Diabetes mellitus 0000819
Duplicated collecting system 0000081
Encephalocele 0002084
Finger syndactyly 0006101
Hand polydactyly
Extra finger
0001161
Hemivertebrae
Missing part of vertebrae
0002937
Hypospadias 0000047
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Low posterior hairline
Low hairline at back of neck
0002162
Microcephaly
Abnormally small skull
Decreased circumference of cranium
Decreased size of skull
Reduced head circumference
Small head circumference
[ more ] 		0000252
Missing ribs
Absent ribs
Decreased rib number
[ more ] 		0000921
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Neoplasm of the breast
Breast tumor
Tumours of the breast
[ more ] 		0100013
Pectus carinatum
Pigeon chest
0000768
Reduced bone mineral density
Low solidness and mass of the bones
0004349
Retinal hamartoma 0009594
Scoliosis 0002650
Short neck
Decreased length of neck
0000470
Short ribs 0000773
Spina bifida occulta 0003298
Split hand
Claw hand
Claw hand deformities
Claw hands
Claw-hand deformities
Split-hand
[ more ] 		0001171
Sprengel anomaly
High shoulder blade
0000912
Ureterocele 0000070
Vesicoureteral reflux 0000076
Percent of people who have these symptoms is not available through HPO
Abnormality of the breast 0000769
Absence of pectoralis minor muscle 0005255
Autosomal dominant inheritance 0000006
Hypoplasia of deltoid muscle 0030241
Hypoplasia of latissimus dorsi muscle 0009026
Hypoplasia of serratus anterior muscle 0009011
Rib fusion
Fused ribs
0000902
Syndactyly
Webbed fingers or toes
0001159
Unilateral absence of pectoralis major muscle 0005256
Unilateral hypoplasia of pectoralis major muscle
Small pec muscle on one side
Underdeveloped pec muscle on one side
[ more ] 		0011959
Unilateral oligodactyly 0006230
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Last updated: 7/1/2020
The cause of Poland syndrome is unknown. Most evidence supports the idea that a vascular abnormal event happens during the sixth week of fetal development. This event most likely involves the vascular (blood and lymph) system. Speculations include:[1]
  • An interruption of the embryonic blood supply of the arteries that lie under the collarbone (subclavian arteries). This could be caused by the forward growth of the ribs reducing the flow of blood.
  • A malformation of the subclavian arteries causes a reduced amount of blood delivered to the developing tissues on one side of the body.
Last updated: 10/5/2016
Poland syndrome is rarely inherited and generally sporadic.[1] Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family.

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 condition).[1]

 

Last updated: 10/5/2016
The severity of Poland syndrome differs from person to person. As a result, when it is mild, it may not be diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.[1] 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.[3]
Last updated: 10/5/2016
Management of Poland syndrome may include surgical correction of the chest wall deformities.[1] Surgical options are available to improve appearance in both males and females.[4] In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall.[1] In males reconstruction of the chest may not be necessary if there is no underlying chest wall deformity. The optimal surgical approach will vary from patient to patient. Surgical options should be discussed with a surgeon familiar with reconstructive surgery in people with Poland syndrome.[5]
Last updated: 10/5/2016
Poland syndrome is thought to be under-reported and under-diagnosed, making the exact incidence of the condition difficult to determine. Some men remain undiagnosed unless they seek treatment for associated hand abnormalities when present; other individuals may not realize they have features of the condition until puberty.[3] It has been estimated that the incidence of the condition is about 1 in 30,000.[3][6] However, it has also been reported that the incidence ranges from 1 in 7,000 to 1 in 100,000, depending on the severity of the condition and the patient population.[6]

A current search of the available literature does not yield reliable statistics specific to the incidence or prevalence of Poland syndrome in the United States. If the estimated incidence of 1 in 30,000 were applied to the U.S. population size, over 10,000 people in the U.S. would have Poland syndrome. However, to our knowledge, data confirming these statistics in the U.S. are not currently available.
Last updated: 10/5/2016

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

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.

Clinical Research Resources

  • The Centers for Mendelian Genomics program is working to discover the causes of rare genetic disorders. For more information about applying to the research study, please visit their website.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this 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.

Where to Start

  • Genetics Home Reference contains information on Poland syndrome. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Poland syndrome. Click on the link to view a sample search on this topic.

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.

  1. Learning About Poland Anomaly. National Human Genome Research Institute. June, 2012; http://www.genome.gov/14514230.
  2. Poland Syndrome. NORD. 2007; http://rarediseases.org/rare-diseases/poland-syndrome/.
  3. Wilhelmi BJ. Poland Syndrome. Medscape Reference. 2016; http://emedicine.medscape.com/article/1273664-overview.
  4. Borschel GH et al.,. Individualized implant-based reconstruction of Poland syndrome breast and soft tissue defomities. Annals of Plastic Surgery. 2007; 59(5):507-14. http://www.ncbi.nlm.nih.gov/pubmed/?term=17992143.
  5. Greydanus DE, Matytsina L, Gains M. Breast disorders in children and adolescents. Prim Care Clin Office Pract. Jun 2006; 33(2):455-502. http://www.ncbi.nlm.nih.gov/pubmed/16713771.
  6. Fokin AA. Thoracic defects: cleft sternum and Poland syndrome. Thorac Surg Clin. November 2010; 20(4):575-582. http://www.ncbi.nlm.nih.gov/pubmed/20974442.