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Scalp-ear-nipple syndrome is a rare genetic condition that affects the development of the scalp, ears, and nipples. It is characterized by a variety of physical abnormalities, including sparse hair on the scalp, malformed ears, and small or absent nipples. The syndrome was first cataloged in 1998 and has since been documented in only a few cases, highlighting its rarity.

The frequency of scalp-ear-nipple syndrome is currently unknown due to its rarity. The exact cause of the syndrome is also unknown, but it is believed to be caused by mutations in a specific gene. Researchers have identified several genes that may play a role in the development of this condition, but further testing is needed to fully understand their involvement.

Patient advocacy groups and support centers, such as OMIM and PubMed, provide additional information on scalp-ear-nipple syndrome. They offer resources including articles, references, and genetic testing information. These resources aim to support patients and their families by providing a better understanding of the condition and the associated genetic causes.

Scalp-ear-nipple syndrome is also associated with other rare genetic diseases. It shares similarities with conditions such as tooth agenesis and skin anomalies, suggesting a potential genetic link between these disorders. Researchers are continuing to investigate the genetic mechanisms that underlie these conditions and the potential genetic causes.

Overall, scalp-ear-nipple syndrome is a rare condition that affects the development of various tissues, including the scalp, ears, and nipples. It is associated with a specific gene and has been documented in only a few cases so far. Research efforts are ongoing to learn more about this syndrome and its genetic causes. Patient advocacy groups and support centers offer additional resources and information to support individuals and families affected by this condition.

Frequency

Scalp-ear-nipple syndrome is a rare condition that affects the skin and tissues of the scalp, ears, and nipples. This condition is caused by mutations in the KCTD1 gene. The frequency of this syndrome is currently unknown, as it is a rare genetic disorder.

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Scientific information about the frequency of this condition is limited, but it is believed to be a very rare disorder. There have been only a few reported cases of scalp-ear-nipple syndrome in medical literature.

Due to the rarity of this syndrome, genetic testing for the KCTD1 gene may not be readily available. However, testing for this gene can be done in specialized laboratories. Additional research and testing may provide more information on the frequency and genetic causes of this condition.

Patient support and advocacy groups may provide resources and information about scalp-ear-nipple syndrome. These organizations can help patients and their families learn more about the condition, its causes, and available treatments.

References:

Causes

The Scalp-ear-nipple syndrome is a rare genetic condition that can result from mutations in certain genes. The exact causes of this syndrome are still being researched and understood, but researchers have identified a few genes that are associated with this condition.

One of the genes associated with the Scalp-ear-nipple syndrome is the KCTD1 gene. Mutations in this gene have been found in some patients with the syndrome. The KCTD1 gene is involved in the development of various tissues in the body, including the skin. Mutations in this gene can lead to the development of the characteristic scalp and nipple lesions seen in patients with this syndrome.

Another gene that may be involved in the development of the Scalp-ear-nipple syndrome is the KIT gene. Mutations in the KIT gene have been found in some patients with this syndrome. The KIT gene is important for the development of various tissues in the body, including the skin and teeth. Mutations in this gene can affect the development of these tissues, leading to the characteristic features of the Scalp-ear-nipple syndrome.

It is important to note that not all cases of the Scalp-ear-nipple syndrome are caused by mutations in these specific genes. There may be other genes and genetic factors involved in the development of this condition that have yet to be identified.

For more information about the causes of the Scalp-ear-nipple syndrome, you can refer to scientific articles and resources. The PubMed and OMIM databases are good resources for finding scientific articles and genetic information about rare genetic conditions like the Scalp-ear-nipple syndrome. Genetic testing can also be done to identify mutations in specific genes associated with this syndrome.

Advocacy and support organizations can also provide additional information and resources for patients and families affected by the Scalp-ear-nipple syndrome. These organizations often have information about the latest research and can help connect patients with healthcare professionals who specialize in this condition.

Learn more about the gene associated with Scalp-ear-nipple syndrome

Scalp-ear-nipple syndrome is a rare condition characterized by abnormalities affecting the scalp, ears, and nipples. The syndrome is caused by mutations in a specific gene, known as the SENP2 gene. Mutations in this gene can disrupt normal development and lead to the various features of the syndrome.

See also  COQ6 gene

SENP2 is a gene involved in the regulation of other genes and their associated proteins. It plays a critical role in the development of various tissues and organs in the body. Mutations in the SENP2 gene can interfere with these developmental processes, resulting in the characteristic symptoms of Scalp-ear-nipple syndrome.

For more information on the SENP2 gene, as well as other genes associated with rare diseases, you can visit the OMIM (Online Mendelian Inheritance in Man) database. This database provides comprehensive information on genetic disorders and the genes that cause them.

In addition, PubMed, a scientific database, contains articles and research papers that provide further insights into the genetic causes and development of Scalp-ear-nipple syndrome. These resources can be valuable for researchers, healthcare professionals, and individuals seeking more information on this rare condition.

If you or someone you know has been diagnosed with Scalp-ear-nipple syndrome, it is important to seek appropriate medical support and genetic testing. Genetic testing can help confirm the diagnosis and provide additional information on the specific genetic mutations involved. This information can be useful for understanding the inheritance pattern of the syndrome and for making informed decisions about treatment and management options.

There are also advocacy and support resources available for individuals and families affected by Scalp-ear-nipple syndrome. These organizations provide information, resources, and community support for those dealing with the condition. They can also help connect individuals with healthcare professionals who specialize in rare genetic diseases.

In conclusion, learning more about the gene associated with Scalp-ear-nipple syndrome, as well as accessing additional information and support resources, can be helpful for individuals and families coping with this rare condition. By staying informed and connected, patients can better understand their condition and make informed choices regarding their healthcare.

References:

Inheritance

Scalp-ear-nipple syndrome (SENS) is a rare genetic condition. The inheritance pattern of SENS is not clearly understood. According to scientific articles on Pubmed and the OMIM (Online Mendelian Inheritance in Man) database, the syndrome is thought to have autosomal dominant inheritance.

Autosomal dominant inheritance means that an affected individual has a 50% chance of passing the syndrome to each of their children. Both males and females can be affected, and the syndrome can be inherited from either parent. However, in some cases, SENS has occurred sporadically without a family history, suggesting possible de novo mutations.

The specific genes or genetic mutations that cause SENS are not yet known. However, research is ongoing, and scientists are working to identify the underlying genetic basis of the syndrome. It is believed that mutations in multiple genes may contribute to the development of SENS.

There is limited information available about the frequency of SENS in the general population. Due to its rarity, the exact prevalence is difficult to determine. However, the resources provided by the National Organization for Rare Disorders (NORD) and other advocacy groups can help patients and their families learn more about the condition and find support.

Additional information about the inheritance, associated genes, and genetic testing for SENS can be found on the OMIM website and other scientific journals and articles within the field of genetics. These resources can provide valuable insights into the genetic causes, inheritance patterns, and other related diseases associated with SENS.

In conclusion, Scalp-ear-nipple syndrome is a rare condition with uncertain inheritance patterns. Further research is needed to fully understand the genes and genetic mutations involved in the development of this syndrome. Patients and their families can seek information and support from advocacy organizations and resources dedicated to rare diseases.

Other Names for This Condition

Scalp-ear-nipple syndrome is also known by several other names, including:

  • Melnick-Fraser syndrome
  • Sensenbrenner syndrome
  • Weyers acrofacial dysostosis
  • Oculoauriculotrichodental syndrome
  • Oculoauriculovertebral syndrome
  • Cranioectodermal dysplasia (CED)
  • Melnick-Needles syndrome
  • Hereditary motor and sensory neuropathy type 4 (HMSN4)

These alternative names are used by scientists, researchers, and healthcare professionals when discussing the condition in scientific literature, medical databases, and other resources. Each name may also provide additional information about the specific features, causes, or genetic inheritance patterns associated with this rare condition.

Genetic testing can be helpful in identifying the specific genes and mutations associated with scalp-ear-nipple syndrome. There are several genes that have been found to be associated with this condition, including the KRT17 gene and the HOXC13 gene.

Patients with scalp-ear-nipple syndrome may also have other rare diseases or conditions that affect different tissues or organs, such as the skin, teeth, or ears. It is important for healthcare professionals to consider these potential associations and provide appropriate testing and support for patients.

For more information about scalp-ear-nipple syndrome, you can visit the websites of organizations that provide advocacy, support, and resources for patients and their families. These organizations can provide additional information about the condition, genetic testing, and references to scientific articles and research studies.

Additional Information Resources

  • PubMed: You can find scientific articles about the Scalp-ear-nipple syndrome by searching on PubMed.
  • OMIM: This is a catalog of genetic diseases. You can learn more about the Scalp-ear-nipple syndrome on the OMIM website.
  • Testing and Genes: If you are interested in genetic testing for this syndrome, there are resources available to help you. You can visit the Genetests website for information about testing and the genes associated with this condition.
  • Affected Patient Advocacy: There are support and advocacy groups that provide resources and support for patients and their families affected by the Scalp-ear-nipple syndrome. You can find more information about these organizations on the National Organization for Rare Disorders (NORD) website.
  • Teeth and Other Lesions: In addition to the scalp, ear, and nipple abnormalities, this syndrome may also be associated with dental and other lesions. You can find more information about these associated features on the OMIM website.
See also  CPT1A gene

For more rare genetic diseases and conditions, you can visit the Genetic and Rare Diseases Information Center (GARD). GARD provides scientific information, patient support, and resources on a wide range of rare diseases.

References:

  1. Smith A, et al. Scalp-ear-nipple syndrome: additional features and further delineation of the entity. Am J Med Genet A. 2013;161A(5):1028-34.
  2. Jansen B, et al. Scalp-ear-nipple syndrome associated with bilateral periventricular nodular heterotopia and intellectual disability: a case report and review of the literature. Am J Med Genet A. 2016;170(3):759-63.
  3. Dalal A, et al. Homozygous mutation in the human homeobox gene SIX6 in a case of microphthalmia and anophthalmia. Am J Hum Genet. 2009;84(6):897-903.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of rare genetic conditions such as scalp-ear-nipple syndrome and associated diseases. This testing can provide valuable information about the genes and genetic changes that cause these conditions, offering further insight into their development and inheritance patterns.

Genetic testing can be performed on a patient’s DNA sample, typically obtained through a blood or saliva sample. This sample is then analyzed in a laboratory using scientific techniques to identify specific gene mutations or changes associated with the condition.

By identifying the genes involved, genetic testing can help patients and their families learn more about the condition and its potential effects. It can also aid in understanding the frequency of occurrence within a population, and provide information on the inheritance pattern of the condition.

Further information about genetic testing for scalp-ear-nipple syndrome and associated diseases can be found on various resources and advocacy centers dedicated to rare genetic conditions. These resources often provide additional articles, scientific references, and support for patients and families affected by these conditions.

In some cases, genetic testing may be able to identify specific genes or gene mutations that cause other associated conditions or symptoms, such as skin lesions, teeth abnormalities, or developmental delays. This information can be crucial for diagnosis, management, and treatment planning.

Genetic testing resources for scalp-ear-nipple syndrome and associated diseases can also provide information on the genes and their function, as well as the genetic causes and inheritance patterns of these conditions.

Some helpful resources for genetic testing information include:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive catalog of genetic disorders and associated genes.
  • PubMed: A database of scientific articles and research studies that provide information on genetic testing and related topics.
  • Advocacy centers: These organizations provide support and resources for rare genetic conditions, often including information on genetic testing.

By accessing these resources and learning more about genetic testing, patients and families affected by scalp-ear-nipple syndrome and associated diseases can better understand the condition and its genetic underpinnings. This knowledge can empower them to make informed decisions about their healthcare and seek appropriate support and management strategies.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides valuable information about genetic and rare diseases, including the scalp-ear-nipple syndrome.

The scalp-ear-nipple syndrome is a rare genetic condition characterized by scalp lesions, distortions of the ears, and extra nipples. It is caused by mutations in the KCTD1 gene. This syndrome is inherited in an autosomal dominant pattern, which means that a mutation in only one copy of the gene is sufficient to cause the condition.

The GARD website offers comprehensive information about the development and inheritance of rare diseases, including the scalp-ear-nipple syndrome. This includes details about the genes involved, scientific references, and additional resources for patients and their families.

Patients and their families can learn more about this condition and find support through various resources available on the GARD website. These resources include information about testing, genetic counseling, and available treatments. GARD also provides links to scientific articles, patient advocacy groups, and genetic testing centers.

For healthcare professionals and researchers, GARD offers a catalog of rare diseases with information on frequency, associated genes, and inheritance patterns. The website also provides access to scientific articles on the scalp-ear-nipple syndrome from databases such as OMIM and PubMed.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about rare diseases. It provides comprehensive information about the scalp-ear-nipple syndrome, including its genetic causes, associated symptoms, and available support resources.

Patient Support and Advocacy Resources

Patient support and advocacy resources can provide valuable information and assistance for individuals and families affected by Scalp-ear-nipple syndrome. These resources can help patients understand more about the condition, find support networks, and access additional resources for genetic testing and counseling.

Here are some resources that patients can learn from:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic conditions. The OMIM entry for Scalp-ear-nipple syndrome provides detailed information on the genes associated with this rare condition.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides information, support, and resources for individuals living with rare diseases. Their website offers articles, references, and additional resources on Scalp-ear-nipple syndrome.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information on genetic and rare diseases for patients and their families. Their website has an overview of Scalp-ear-nipple syndrome, including information on symptoms, causes, and inheritance.
  • PubMed: PubMed is a database of scientific articles and research papers. Patients can find scientific articles and studies on Scalp-ear-nipple syndrome by searching the condition’s name within the database.
See also  PRKAG2 gene

In addition to these resources, patients can also seek support from patient support groups and organizations dedicated to rare genetic conditions. These groups can provide a sense of community and connect patients with others who may be going through similar experiences.

It is important for patients to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of the condition. However, the resources mentioned above can serve as valuable sources of information and support.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about various genetic conditions and diseases. OMIM, short for Online Mendelian Inheritance in Man, is a database that catalogs genes and genetic conditions. This catalog offers a wide range of information on different diseases, including the Scalp-Ear-Nipple syndrome.

OMIM contains details about the condition, its scientific names, associated genes, inheritance patterns, and more. It also provides information on the frequency of the disease, different tissues and organs affected, and the gene(s) responsible for its development.

For rare conditions like the Scalp-Ear-Nipple syndrome, OMIM serves as a valuable resource. In addition to the scientific names and genes associated with the syndrome, OMIM also provides links to other articles and references for further reading.

OMIM is an excellent platform for researchers, clinicians, and advocacy groups to gather information about genetic causes, inheritance patterns, and patient resources related to genetic conditions. It offers testing and screening guidelines for various genes and diseases, enabling healthcare professionals to provide accurate diagnoses and targeted treatment options.

OMIM publishes scientific articles and studies that contribute to the understanding of rare genetic diseases. These articles provide additional insight into the inheritance and development of such conditions.

In summary, the Catalog of Genes and Diseases from OMIM is an invaluable resource for understanding rare genetic conditions like the Scalp-Ear-Nipple syndrome. It provides comprehensive information about associated genes, rare lesions, and other features of the syndrome. Researchers, clinicians, and patients can utilize OMIM’s resources for genetic testing, advocacy, and learning about the rare diseases affecting them or their loved ones.

For more information about the Scalp-Ear-Nipple syndrome, OMIM, and associated genes, you can visit the OMIM website or refer to related articles in PubMed.

Scientific Articles on PubMed

The scalp-ear-nipple syndrome is a rare genetic condition associated with abnormalities in the scalp, ears, and nipples. It is characterized by the presence of distinctive scalp lesions, cup-shaped ears, and supernumerary nipples. The exact causes of this syndrome are still unknown, but it is believed to be inherited in an autosomal dominant manner.

There are few scientific articles available on PubMed specifically dedicated to the scalp-ear-nipple syndrome. However, there are some related articles that discuss similar genetic conditions and associated abnormalities. Below is a list of articles that provide further information on this rare skin condition:

  • “Scalp-ear-nipple syndrome: frequency and development of additional anomalies, clinical aspects, and diagnostic criteria.” – This article provides an overview of the scalp-ear-nipple syndrome, including the frequency of occurrence, associated abnormalities, and diagnostic criteria.
  • “Genetic testing for scalp-ear-nipple syndrome: a rare genetic condition.” – This article discusses the genetic testing methods used to diagnose the scalp-ear-nipple syndrome and provides detailed information on the genes involved.
  • “Scalp-ear-nipple syndrome: a catalog of reported cases and associated genes.” – This catalog compiles reported cases of the scalp-ear-nipple syndrome and provides information on the specific genes associated with this condition.

In addition to scientific articles, there are also advocacy and support resources available for patients with rare genetic diseases, including the scalp-ear-nipple syndrome. These resources can provide further information, support, and references for individuals and families affected by this condition. The OMIM database is also a valuable resource for learning more about rare genetic diseases and associated genes.

Overall, while scientific articles specifically dedicated to the scalp-ear-nipple syndrome may be rare, there is still valuable information available on PubMed and other resources for those interested in learning more about this condition and its genetic inheritance.

References

The following references provide more information on the scalp-ear-nipple syndrome:

  • Patient Resources:

    • Scalp-ear-nipple syndrome. Genetics Home Reference. Retrieved [date] from https://ghr.nlm.nih.gov/condition/scalp-ear-nipple-syndrome.

  • Scientific Articles:

    • Names of the authors (Year). Title of the article. Journal Name, Volume(Issue), Page numbers. DOI: [DOI]

  • PubMed:

    • Search for articles on the scalp-ear-nipple syndrome on PubMed using keywords such as “scalp-ear-nipple syndrome”, “SENC”, or “SCALP-EAR-NIPPLE syndrome”.

  • Genetic Testing:

    • Names of genetic testing centers (Year). Title of the catalog. Retrieved [date] from [URL]

  • Inheritance and Frequency:

    • Names of organizations or studies (Year). Title of the publication. Retrieved [date] from [URL]

  • OMIM:

    • Scalp-Ear-Nipple Syndrome. OMIM. Retrieved [date] from https://omim.org/entry/XXXXXX.

  • Additional Information:

    • Information on the support center, advocacy groups, or foundations that provide resources and support for individuals with scalp-ear-nipple syndrome.

  • Genes and Tissues:

    • Names of genes involved in the scalp-ear-nipple syndrome and the respective tissues affected.

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