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Disease Profile

Poland syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

1-9 / 100 000

US Estimated

Europe Estimated

Age of onset

Infancy

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ICD-10

Q79.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Poland anomaly; Poland syndactyly; Poland sequence;

Categories

Congenital and Genetic Diseases; Female Reproductive Diseases; Musculoskeletal Diseases

Summary

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]

Symptoms

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]

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.

Medical Terms Other Names
Learn More:
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

Treatment

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]

Organizations

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

    Learn more

    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

    • MedlinePlus Genetics 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.

        References

        1. Learning About Poland Anomaly. National Human Genome Research Institute. June, 2012; https://www.genome.gov/14514230.
        2. Poland Syndrome. NORD. 2007; https://rarediseases.org/rare-diseases/poland-syndrome/.
        3. Wilhelmi BJ. Poland Syndrome. Medscape Reference. 2016; https://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. https://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. https://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. https://www.ncbi.nlm.nih.gov/pubmed/20974442.

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