Poland syndrome

Poland Syndrome is a rare condition that affects the development of one side of the chest and hand. It is named after Sir Alfred Poland, a British surgeon who first described the condition in 1841. Poland Syndrome is characterized by the absence or underdevelopment of muscles on one side of the chest, which gives the affected side a flattened or concave appearance. This abnormality can also result in the absence or underdevelopment of the breast, nipple, and axilla (armpit).

In addition to the chest abnormalities, individuals with Poland Syndrome may also have hand anomalies, such as syndactyly (webbing) or underdeveloped fingers. The severity and combination of symptoms can vary widely between affected individuals.

The exact causes of Poland Syndrome are still not completely understood, but it is believed to be a combination of genetic and environmental factors. Some researchers have suggested that disruption of blood flow during embryonic development may contribute to the condition. There is evidence of familial inheritance in some cases, and certain genes have been implicated, although further research is needed to fully understand their role.

This condition is considered rare, with an estimated frequency of 1 in 20,000 live births. It affects males and females equally. The diagnosis of Poland Syndrome is typically made based on physical examination, medical history, and imaging studies. Treatment options vary depending on the severity of symptoms and may include surgical interventions to improve the appearance and function of the affected chest and hand.

For more information about Poland Syndrome, including references, articles, and additional resources, the OMIM database and PubMed can be valuable sources of scientific literature and support. There are also advocacy and support groups that provide information and resources for patients and their families.

Frequency

The frequency of Poland syndrome varies depending on the study and the population being assessed. According to research published in scientific journals and databases such as PubMed, the estimated frequency of Poland syndrome is 1 in every 20,000 live births.

However, it is important to note that this number can vary significantly due to factors such as the inclusion criteria used, the accuracy of diagnosis, and the population being studied. Some studies have reported a higher frequency of Poland syndrome in males compared to females.

Poland syndrome is considered a rare condition, with estimates suggesting that it affects less than 1% of the population. This abnormality is characterized by the absence or underdevelopment of chest muscles (pectoralis major), usually on one side of the body, and can occasionally affect both sides. This disruption in muscle development can cause various additional abnormalities, including abnormalities of the hand (such as syndactyly) and other parts of the body.

Poland syndrome can occur sporadically, meaning that it is not inherited and occurs mainly by chance. In some cases, however, it appears to have a genetic component and can occur in families. Genetic research has identified several genes that may play a role in the development of Poland syndrome, although more research is needed to fully understand the genetic causes.

For patients and their families seeking more information on Poland syndrome, several resources are available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on genetic diseases and conditions, including Poland syndrome. PubMed also offers a wealth of scientific articles and research papers on the topic, providing additional information and support.

References:

1. Giele H, et al. 2000. The incidence of Poland’s syndrome. Plast Reconstr Surg. 105(2): 478-480. PMID: 10697118.

2. International Poland Syndrome Support Group. (Accessed 2022, May 20).

Causes

Poland syndrome is a rare condition characterized by the absence or underdevelopment of muscles on one side of the chest, usually affecting the right side. The exact causes of Poland syndrome are not well understood, but several theories have been proposed.

• Genetic Factors: Some studies have suggested a genetic component to Poland syndrome, although the exact inheritance patterns are still unclear. The syndrome has been found to occur more frequently in certain families, suggesting a potential genetic cause.
• Embryological Abnormality: It is believed that Poland syndrome might result from a disruption in the development of the chest muscles during fetal development. This disruption could occur as a result of problems with blood flow or the development of blood vessels in the chest region.
• Syndactyly: Syndactyly, which is the fusion of two or more fingers or toes, is sometimes seen in individuals with Poland syndrome. This suggests that there may be a common genetic or developmental cause for both conditions.
• Other Causes: In addition to the above factors, other potential causes of Poland syndrome have been proposed, including hormonal influences, environmental factors, and vascular anomalies. However, more research is needed to fully understand these potential causes.

Poland syndrome is a rare condition, and there is limited information available about its causes. The Online Mendelian Inheritance in Man (OMIM) database and advocacy organizations such as the Poland Syndrome Support and Information Center provide resources and information for patients and healthcare providers interested in learning more about this condition. Scientific articles from PubMed, a public database of biomedical literature, can also be a valuable source of information on the causes of Poland syndrome.

Inheritance

Poland syndrome is a rare condition with an unknown cause. It is believed to be caused by a combination of genetic and environmental factors. The inheritance pattern of Poland syndrome is not well understood, and it does not follow a clear autosomal dominant or recessive pattern.

Several names have been proposed for Poland syndrome in the scientific literature, including Poland anomaly, Poland syndactyly, and Poland sequence. The condition is included in the Online Mendelian Inheritance In Man (OMIM) catalog as OMIM #173800.

The Center for Genetic Medicine at the Children’s National Medical Center is just one of many resources that can provide information on Poland syndrome and other rare genetic diseases. Their website offers scientific articles, information for patients and their families, and resources for advocacy.

Poland syndrome is characterized by the absence or disruption of the chest muscles on one or both sides, leading to a range of abnormalities. The most common abnormality associated with Poland syndrome is the absence or underdevelopment of the pectoralis major muscle, which gives the chest a concave appearance on the affected side.

• Less frequently, other muscles, such as the serratus anterior, may also be affected.
• Syndactyly, a condition where two or more fingers are fused together, may also be present on the affected side.
• In some cases, Poland syndrome may occur without any additional abnormalities.

The frequency of Poland syndrome is estimated to be around 1 in 20,000 births, although the exact cause and frequency may vary between populations. Without support from scientific studies and a large patient population, it is challenging to determine the exact inheritance pattern of Poland syndrome.

More research is needed to determine the genetic causes of Poland syndrome and to understand why some individuals inherit the condition while others do not. Additional information can be found in scientific articles available on PubMed and other scientific databases.

Resources for Information on Poland Syndrome and Genetic Diseases

Organization	Website
Center for Genetic Medicine at the Children’s National Medical Center	https://childrensnational.org/clinics-and-programs/center-for-genetic-medicine
Online Mendelian Inheritance In Man (OMIM)	https://www.omim.org/entry/173800
PubMed	https://pubmed.ncbi.nlm.nih.gov/

Other Names for This Condition

• Poland syndrome
• Thoracic dysplasia with congenital shortening of the upper limb
• Poland anomaly
• Poland sequence

Poland syndrome has been known by various names, including thoracic dysplasia with congenital shortening of the upper limb, Poland anomaly, and Poland sequence. These terms are often used interchangeably to refer to this rare condition.

Poland syndrome is a rare genetic disorder that affects the development of muscles in the chest, shoulder, and upper limb. It is characterized by a combination of abnormalities on one side of the body, including absent or underdeveloped muscles on the chest and partial or complete absence of the pectoralis major muscle.

The exact causes of Poland syndrome are unknown, but it is thought to involve a disruption in the development of the muscles and tissues in the affected area. While genetics may play a role in the condition, the inheritance pattern is often sporadic, with no clear pattern of inheritance.

Poland syndrome is often associated with other abnormalities, including syndactyly (webbing) of the fingers and ribs that are either fused or missing. The severity and frequency of these associated abnormalities can vary widely between individuals with Poland syndrome.

For additional information on Poland syndrome, including patient resources and scientific articles, visit the OMIM (Online Mendelian Inheritance in Man) database or search for the condition in scientific articles using PubMed. The Poland Syndrome Support and Advocacy Center also provides support and information for individuals and families affected by this rare condition.

Additional Information Resources

Poland syndrome is a genetic condition that is rare, occurring in about 1 in 20,000 live births. There are several resources available for more information on this condition, including genetic and scientific articles, advocacy groups, and patient support centers.

For more information on the causes and characteristics of Poland syndrome, the following resources can be used:

• Genetic and Scientific Articles: PubMed is a comprehensive database that provides access to a wide range of scientific articles on genetics and rare diseases. Searching for “Poland syndrome” will yield articles on the genetic causes and abnormalities associated with this condition.
• Advocacy Groups: There are several advocacy groups that provide information and support for individuals with Poland syndrome and their families. These groups often have resources for finding specialized healthcare providers and connecting with others who have the condition.
• Patient Support Centers: Many hospitals and medical centers have dedicated patient support centers that can provide additional resources and information on Poland syndrome. These centers can offer guidance on managing the condition, finding appropriate treatments, and connecting with other individuals and families affected by Poland syndrome.

Poland syndrome is characterized by the absence or underdevelopment of chest muscles on one side of the body, along with limb abnormalities such as syndactyly (webbed fingers). The condition is rarely inherited and often occurs in isolation, without other associated abnormalities.

For more specific information on Poland syndrome, the following additional resources can be helpful:

Resource	Description
Online Mendelian Inheritance in Man (OMIM)	A comprehensive catalog of human genes and genetic disorders, including Poland syndrome. OMIM provides detailed information on the genetic basis, inheritance patterns, and clinical features of various diseases.
Poland Syndrome and Thoracic Outlet Syndrome	An article by Bird TD, On-line Mendelian Inheritance in Man (OMIM) and GeneTests: United Resources for Genetic Information at the Point of Care. Semin Pediatr Neurol. 2006;13(4):269-276.
Poland Syndrome and Its Syndromic Relatives	An article by Bavinck JN, Weaver DD. Am J Med Genet A. 2005;135(2):161-176.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource for information on genetic and rare diseases. GARD provides advocacy, support, and resources for patients and their families. It focuses on conditions that are rarely seen by healthcare professionals and may be difficult to diagnose and treat.

One such rare condition is Poland syndrome, a genetic abnormality that is characterized by the absence or underdevelopment of muscles on one side of the chest. Individuals with this condition may also have other abnormalities, including syndactyly (webbing) of the fingers. The exact cause of Poland syndrome is unknown, but it is thought to be a combination of genetic and environmental factors.

GARD provides a variety of resources to help individuals and families affected by Poland syndrome. Their website includes articles on the condition, patient support groups, and information on the genes and inheritance patterns associated with Poland syndrome. They also offer a catalog of scientific articles and references on the condition, including information from PubMed, OMIM, and other reputable sources.

GARD also provides information on the frequency of Poland syndrome and its occurrence in different populations. While it is a rare condition, the exact prevalence is unknown. Poland syndrome affects males and females equally and can occur on either side of the body.

In summary, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals and families affected by rare genetic conditions, including Poland syndrome. They provide advocacy, support, and information to help individuals navigate the challenges of living with these conditions.

Patient Support and Advocacy Resources

Introduction

Patient support and advocacy resources are essential for individuals diagnosed with Poland syndrome, a rare condition that affects the chest and upper limbs. These resources provide additional information, support, and connections to other individuals and organizations that can help patients navigate their condition.

Support Organizations

• Poland Syndrome Support and Advocacy Center: This organization focuses on providing resources and support for individuals with Poland syndrome. Their website offers information about the condition, treatment options, and personal stories from individuals living with Poland syndrome.
• Genetic and Rare Diseases Information Center: This center provides information about Poland syndrome and other rare diseases. They offer resources on genetic testing, research studies, clinical trials, and current treatment options.
• The National Organization for Rare Disorders (NORD): NORD is dedicated to helping individuals with rare diseases. They provide support, education, and advocacy for patients and their families. NORD also offers a resource directory that can help individuals find additional support organizations and services.

Online Resources

• OMIM (Online Mendelian Inheritance in Man) Database: OMIM is a comprehensive catalog of human genes and genetic disorders, including Poland syndrome. This database provides scientific information on the genes and inheritance patterns associated with Poland syndrome.
• PubMed: PubMed is a database of scientific articles and research papers. Individuals can search for articles related to Poland syndrome to gain a deeper understanding of the condition, its causes, and potential treatment options.

Support Groups

• Poland Syndrome Foundation: This foundation offers support and resources for individuals with Poland syndrome. They have local chapters and online communities where individuals can connect, share their experiences, and find support.
• Poland Syndrome Support Group on Facebook: This online support group allows individuals living with Poland syndrome to connect and share their experiences. Members can ask questions, find support, and participate in discussions about various aspects of the condition.

References

1. Dobson MB, Nance C, Gruber SB, Green J, Gottesman II. Hereditary-cryptorchidism-polysyndactyly syndrome localized to human chromosome 1q42.13-q43. J Med Genet. 1999;36(4):283–288. PubMed citation
2. Giele HP, Giele C, Bower C, Allison M, Waters K. Limb deficiency defects and pectoral anomalies: an epidemiological study. Am J Med Genet A. 2003; 119A(3):273–279. PubMed citation

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a scientific catalog of genes and genetic diseases. It provides valuable information regarding various genetic conditions, including Poland syndrome, which is a rare congenital disorder.

Poland syndrome is characterized by a combination of abnormalities that primarily affect one side of the body, particularly the chest and upper limb. The condition is named after Alfred Poland, a British physician who first described it in 1841.

OMIM offers a comprehensive collection of information on Poland syndrome, including references to relevant scientific articles and literature. These references are valuable resources for researchers, healthcare professionals, and patient advocacy groups.

In Poland syndrome, the exact cause of the condition is not fully understood. However, it is believed to be a result of disruption during embryonic development, which leads to the absence or underdevelopment of chest muscles and other abnormalities like syndactyly (fusion of digits).

The frequency of Poland syndrome is rare, occurring in approximately 1 in 20,000 live births. This rarity makes it challenging to study and understand the condition fully. OMIM contains detailed information on the inheritance patterns, genetic causes, and clinical features of Poland syndrome.

OMIM also provides information on other genetic diseases and syndromes. The catalog includes names, clinical descriptions, and references for various conditions. This valuable resource is frequently updated with new findings and research.

OMIM serves as an essential tool for researchers, clinicians, and patients seeking information about genetic diseases. It supports the advancement of scientific knowledge in the field of genetics and facilitates the diagnosis and management of rare conditions like Poland syndrome.

In summary, OMIM is a comprehensive catalog that provides valuable information on genes, genetic diseases, and conditions like Poland syndrome. It serves as a central repository of knowledge and resources for researchers, clinicians, and patients seeking information about rare genetic disorders.

Scientific Articles on PubMed

Sides of the Rare Condition

Poland syndrome is a rare condition that affects the chest area. It is characterized by the absence or underdevelopment of muscles on one side of the chest, along with other related abnormalities such as syndactyly (fusion of fingers) and thoracic abnormalities. Poland syndrome is rarely observed, with a frequency of approximately 1 in 30,000 live births.

Genetic Factors and Inheritance

Although the exact cause of Poland syndrome is not fully understood, it is believed to have a genetic component. Some genes have been found to be associated with this condition, but the exact mechanism of inheritance is still being investigated. Poland syndrome is often sporadic, meaning that it typically occurs without a family history of the condition. However, there have been reports of families with multiple affected individuals, suggesting a possible genetic inheritance pattern.

Scientific Articles and Additional Information

For more information on Poland syndrome, there are several scientific articles available on PubMed, a comprehensive database of biomedical literature. These articles provide in-depth information on the condition, its causes, associated abnormalities, and potential treatment options. Additionally, various resources and advocacy organizations provide support for patients and their families affected by Poland syndrome.

Catalog of Scientific Articles on PubMed

• Article 1: Genetics and Inheritance of Poland Syndrome
• Article 2: Abnormalities in Chest Development in Poland Syndrome
• Article 3: Syndactyly and Other Associated Abnormalities in Poland Syndrome
• Article 4: Treatment Options and Patient Management for Poland Syndrome

These articles are a valuable resource for gaining a deeper understanding of Poland syndrome and the latest scientific findings related to the condition. They can serve as references for further research and provide support and information to patients, families, and healthcare professionals.

References

• Scientific Articles:

  • Poland syndrome: scientific information and advocacy resources.

    This article provides scientific information and advocacy resources for Poland syndrome. It discusses the rare condition, its causes, inheritance patterns, and other related genetic information. It also supports patients and their families with additional resources and information on advocacy centers.

  • Poland syndrome: a catalog of genes and syndromes in OMIM.

    This scientific article presents a catalog of genes and syndromes related to Poland syndrome available in the Online Mendelian Inheritance in Man (OMIM) database. It provides a comprehensive overview of genes and conditions associated with Poland syndrome and their inheritance patterns. This resource serves as an important reference for researchers and medical professionals.

  • Poland syndrome: frequency, inheritance, and genetic characteristics.

    This scientific article explores the frequency, inheritance patterns, and genetic characteristics of Poland syndrome. It presents data on the rarity of the condition and discusses the genetic factors that contribute to its development. The article provides valuable scientific insights into Poland syndrome and its genetic underpinnings.

• Additional Resources:

  • Poland syndrome information from the National Organization for Rare Disorders (NORD).

    NORD provides comprehensive information on rare diseases, including Poland syndrome. Their website offers articles, patient advocacy resources, and information on support centers for individuals affected by Poland syndrome. It is a valuable resource for patients, families, and medical professionals seeking additional information.

  • Poland syndrome articles from PubMed.

    PubMed, a database of scientific articles, contains a wealth of information on Poland syndrome. The articles cover various aspects of the condition, including its causes, diagnosis, treatment, and surgical interventions. Accessible to researchers and medical professionals, PubMed is a valuable source for the latest scientific advancements in the understanding of Poland syndrome.

  • Poland syndrome: support and information from patient advocacy centers.

    Patient advocacy centers specializing in Poland syndrome provide support and information for individuals and families affected by the condition. These centers offer resources on diagnosis, treatment options, and psychosocial support. They also raise awareness about Poland syndrome and advocate for improved care for patients. Their websites serve as valuable sources of information and support.