Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II, also known as TRPS II, is a rare genetic condition that affects multiple parts of the body. It is characterized by long, thin fingers and toes, a distinctive facial appearance, and abnormalities in the hair and teeth. TRPS II is caused by deletions or mutations in the TRPS1 gene, which plays a role in the development and maintenance of various tissues. Inheritance of TRPS II follows an autosomal dominant pattern, meaning an affected individual has a 50% chance of passing the condition onto each of their children.

Clinical features of TRPS II include short stature, intellectual disability, and skeletal abnormalities. Children with TRPS II may experience delayed development and have learning difficulties. The characteristic facial features include a long, flat philtrum (area between the upper lip and nose), a bulbous nose, sparse scalp hair, and thick eyebrows. Dental abnormalities, such as large teeth or delayed tooth eruption, are also common.

TRPS II is a rare condition, with an estimated frequency of 1 in 1 million individuals. Diagnosis of TRPS II is often based on the clinical features and confirmed through genetic testing for the TRPS1 gene mutation or deletion. Management of TRPS II focuses on treating the specific symptoms and providing support for the affected individual and their family. This may include physical therapy, speech therapy, and educational support.

For additional information about TRPS II, you may refer to resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles on PubMed, and genetic support organizations. These resources provide more detailed information on the clinical aspects, causes, and inheritance of TRPS II. They also offer support for patients and families affected by this rare genetic condition.

References:

Ludecke HJ. Trichorhinophalangeal syndrome type II. GeneReviews® [Internet]. 2005.

Kaiser FJ, et al. Trichorhinophalangeal Syndrome Type I and II: A Clinical, Molecular, and Radiological Comparison. J Med Genet. 2004;41:e32.

Frequency

Trichorhinophalangeal syndrome type II is a rare genetic condition. The exact frequency of the syndrome is not known, but it is estimated to occur in less than 1 in 1,000,000 individuals.

This syndrome is caused by mutations or deletions in the TRPS1 gene, which is located on chromosome 8. TRPS1 gene mutations are associated with a variety of clinical features, including sparse hair, a bulbous nose, and cone-shaped epiphyses in the fingers and toes.

TRPS1 gene mutations have also been linked to other genetic conditions, such as rad21-related disorders.

Information on the frequency of TRPS2 is limited, but it is believed to be a rare condition.

For more information on the frequency of this condition, refer to the OMIM and GeneReview articles on trichorhinophalangeal syndrome type II.

Additional resources, such as genetic testing and support organizations, can be found on the Genetic and Rare Diseases Information Center website.

Causes

Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic disorder caused by mutations or deletions in the TRPS1 gene, which is located on chromosome 8q24.12. The TRPS1 gene provides instructions for making a protein that is involved in the development and maintenance of various tissues in the body.

These genetic mutations result in a decrease in the amount or function of the TRPS1 protein, leading to the characteristic features of TRPS II. TRPS II inheritance is usually autosomal dominant, meaning that one copy of the altered gene in each cell is sufficient to cause the condition.

In some cases, TRPS II may be inherited from an affected parent. However, the majority of cases occur in individuals with no family history of the condition, and the genetic mutation arises spontaneously during the formation of reproductive cells or early embryonic development.

TRPS II is a rare condition, with a frequency estimated to be less than 1 in 1 million individuals. Due to its rarity, limited information and support resources are available for patients and their families. However, advocacy organizations and patient support groups can provide additional information and support for individuals affected by TRPS II.

To learn more about the genetic causes of TRPS II, additional resources and scientific articles can be found in the OMIM (Online Mendelian Inheritance in Man) database and PubMed, a comprehensive database of scientific articles. The TRPS II entry in the OMIM catalog provides detailed information about the genetic basis of the condition, including the specific genes and chromosomal location involved.

Some of the genes and chromosomal locations associated with TRPS II include TRPS1, RAD21, and deletions on chromosome 8q24.12. Mutations in the TRPS1 gene are the most common cause of TRPS II. RAD21 gene mutations have also been found in a small number of individuals with TRPS II.

Clinical testing and genetic counseling are typically recommended for individuals with suspected TRPS II or a family history of the condition. Genetic testing can confirm the diagnosis and identify specific genetic mutations or deletions associated with TRPS II. A genetic counselor can provide information about the inheritance pattern, recurrence risk, and available treatment options.

Learn more about the genes and chromosome associated with Trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic condition characterized by distinctive facial features, growth abnormalities, and skeletal abnormalities. Mutations in the TRPS1 gene are associated with this condition.

The TRPS1 gene is located on chromosome 8 and provides instructions for making a protein that is involved in the development and maintenance of various tissues in the body. Mutations in this gene can disrupt the normal functioning of the protein and lead to the signs and symptoms of TRPS II.

This condition is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the mutation onto each of their children. However, in some cases, TRPS II can also occur as a result of new mutations in the TRPS1 gene.

To diagnose TRPS II, genetic testing can be performed to look for mutations in the TRPS1 gene. This testing can be performed through specialized genetic testing centers or laboratories. It is important to note that TRPS II is a rare condition, and not all testing centers may offer specific testing for this condition.

In addition to genetic testing, a clinical examination and evaluation of the patient’s medical history can also help in diagnosing TRPS II. The characteristic facial features, such as a prominent forehead, a broad nasal bridge, and a long philtrum, can all be indicative of this condition.

Other causes of similar symptoms should also be considered and ruled out, as certain deletions or mutations in other genes can cause similar clinical features. Evaluation by a medical geneticist or other healthcare professional experienced in genetic conditions can help in properly diagnosing TRPS II.

For more information about TRPS II, there are several resources available. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the TRPS1 gene and its associated conditions. PubMed, a database of scientific articles, also has additional references and articles on TRPS II and related diseases.

Support and advocacy groups for rare genetic conditions can also provide useful information and resources for individuals and families affected by TRPS II. These organizations often offer support networks, educational materials, and guidance on managing the condition.

Overall, learning more about the genes and chromosome associated with Trichorhinophalangeal syndrome type II can help in understanding the condition and its inheritance patterns, as well as in providing better support and clinical care for affected individuals.

Inheritance

The Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic condition that affects the bones, hair, and facial features. It is inherited in an autosomal dominant pattern, which means that a person only needs to inherit one copy of the abnormal gene to develop the syndrome.

The genetic cause of TRPS II is a mutation in the TRPS1 gene located on chromosome 8. This gene provides instructions for making a protein that is involved in the development and maintenance of various tissues in the body. The specific mutation in the TRPS1 gene leads to the characteristic features of TRPS II, such as short stature, cone-shaped epiphyses (the rounded ends of the long bones in the fingers and toes), and distinctive facial features including a bulbous nose and long philtrum.

In addition to mutations in the TRPS1 gene, TRPS II can also be caused by deletions in the region of chromosome 8 that contains the TRPS1 gene. These deletions result in the loss of genetic material and disrupt the normal function of TRPS1.

TRPS II is a rare condition, with a frequency estimated to be less than 1 in 1 million individuals. The syndrome is typically diagnosed in infancy or early childhood based on clinical features and confirmed by genetic testing.

For more information about TRPS II, its inheritance, and associated genes, you can visit the resources listed below:

• The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about TRPS II and its genetic causes. You can search for specific genes, phenotypes, and clinical features associated with the condition.
• The Genetic and Rare Diseases Information Center (GARD) offers a wide range of information on TRPS II, including causes, symptoms, and treatment options.
• The TRPS Foundation is an advocacy organization that provides support, resources, and information for individuals and families affected by TRPS II. Their website offers additional information about the condition and links to scientific articles and research studies.
• PubMed is a widely used database for scientific articles and research papers. Searching for “Trichorhinophalangeal syndrome type II” or “TRPS II” on PubMed can help you find more information about the condition, its inheritance, and ongoing research.

Other Names for This Condition

Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic condition that is typically inherited in an autosomal dominant manner. It has been given several other names, including:

• Ludecke syndrome
• TRPS with metacarpophalangeal joint abnormalities

TRPS II is caused by deletions or mutations in the RAD21 gene on chromosome 8. This gene codes for a protein that is involved in the regulation of cell division. When the RAD21 gene is altered, it can lead to decreased production of this protein and result in the characteristic features of TRPS II.

Some of the clinical features associated with TRPS II include:

• Growth retardation
• Short stature
• Cone-shaped epiphyses in the phalanges of the toes
• Delayed closure of the fontanels (soft spots on the skull) in infancy
• Distinctive facial features, such as a round face, bulbous nose, and thin upper lip
• Abnormal development of the teeth
• Intellectual disability

TRPS II is a progressive condition, and its clinical features may become more pronounced as individuals age. There is currently no cure for TRPS II, but treatment is aimed at managing the symptoms and providing support for affected individuals. Genetic testing can confirm a diagnosis of TRPS II, and patients and their families may find valuable support and information from advocacy groups and centers specializing in rare genetic diseases.

For more detailed information about TRPS II, please refer to the following resources:

• The Trichorhinophalangeal Syndrome Type II entry on the Online Mendelian Inheritance in Man (OMIM) database (OMIM #150230)
• Scientific articles and publications on TRPS II in PubMed
• The TRPS Foundation, which provides support and resources for individuals with TRPS and their families

Additional Information Resources

Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic condition caused by deletions or mutations in the TRPS1 gene on chromosome 8. It is also known as trichorhinophalangeal syndrome 2, TRPS2, or Ludecke syndrome. Individuals with TRPS II typically have distinctive facial features, including thin hair, a bulbous tip of the nose, and long philtrum (the groove between the nose and upper lip). They may also have problems with their bones and joints, such as short fingers and toes.

For more information on TRPS II and related genetic diseases, you can consult the following resources:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the TRPS1 gene, associated symptoms, inheritance patterns, and frequency of the condition. You can access the article on TRPS II at https://omim.org/entry/150230.
• GeneReviews: GeneReviews is an online resource that provides expert-authored, peer-reviewed articles on genetic disorders. There is an article on TRPS II available at https://www.ncbi.nlm.nih.gov/books/NBK1534/.
• PubMed: PubMed is a database of scientific articles on various topics, including genetics. You can search for relevant articles on TRPS II by using keywords like “trichorhinophalangeal syndrome type II” or “TRPS II”.

In addition to these scientific resources, there are also advocacy and support groups that can provide more information and connect you with other individuals and families affected by TRPS II. One such organization is the Trichorhinophalangeal Syndrome Support Center, which offers support, resources, and information about the condition. You can visit their website at http://www.trpsupport.org/.

Genetic testing is commonly used to confirm a diagnosis of TRPS II. If you or a loved one is suspected to have this condition, it is recommended to consult with a healthcare professional or genetic counselor for further evaluation and guidance.

Genetic Testing Information

Genetic testing is an important tool for diagnosing and understanding Trichorhinophalangeal Syndrome Type II (TRPS II). This rare genetic condition is characterized by a variety of symptoms, including sparse hair, abnormalities of the face and fingers, and delayed development.

There are several genes associated with TRPS II, including TRPS1 andRAD21. Mutations or deletions in these genes can cause the condition. Genetic testing can identify these mutations and provide a conclusive diagnosis for individuals suspected of having TRPS II.

Genetic testing for TRPS II is typically performed using a blood sample from the patient. The sample is analyzed to look for specific changes or mutations in the TRPS1 and RAD21 genes. If a mutation is identified, it confirms the diagnosis of TRPS II.

Genetic testing can also provide information about the inheritance pattern of TRPS II. The condition is typically inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to their children. However, in some cases, TRPS II may occur due to de novo mutations, meaning the individual is the first in their family to have the condition.

In addition to diagnosing TRPS II, genetic testing can also provide information about the specific genetic changes causing the condition. This information can be useful for understanding the underlying mechanisms of TRPS II and for developing targeted treatments in the future.

There are several resources available for individuals and families affected by TRPS II. The OMIM database and the GeneReviews catalog provide scientific and clinical information about TRPS II, including articles and references to learn more about the condition. The TRPS Foundation is a patient advocacy organization that offers support, resources, and information for individuals with TRPS II and their families.

Genetic testing and the availability of resources and support for TRPS II have improved greatly in recent years. As a result, more individuals with TRPS II are being accurately diagnosed and are able to access appropriate medical care and support services.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information about genetic and rare diseases. It is a long-standing and trusted source of information for individuals and families affected by these conditions.

The GARD website offers a comprehensive catalog of scientific information about genetic and rare diseases. It includes information about the causes, inheritance patterns, clinical features, and frequency of these conditions. The website also provides links to additional resources, such as patient advocacy organizations, genetic testing centers, and support groups.

Trichorhinophalangeal syndrome type II (TRPS II), also called Ludecke syndrome or TRPS II/III, is a rare genetic condition. It is typically characterized by short stature, distinctive facial features, fine hair, and skeletal abnormalities. Additional features may include intellectual disability, hearing loss, and dental abnormalities.

TRPS II is caused by mutations or deletions on the TRPS1 gene or the RAD21 gene on chromosome 8. These genes provide instructions for making proteins that are involved in the development and maintenance of various tissues in the body.

TRPS II follows an autosomal dominant pattern of inheritance, which means an affected individual has a 50% chance of passing the condition on to each of their children. It is important for individuals and families affected by TRPS II to seek genetic counseling and testing to learn more about their specific genetic makeup and the likelihood of passing the condition on to future generations.

For more information about TRPS II, you can visit the GARD website at:

• https://rarediseases.info.nih.gov/diseases/6091/trichorhinophalangeal-syndrome-type-2

References:

1. Ludecke HJ, et al. Trichorhinophalangeal syndrome type II: clinical manifestations and genetic analysis. Am J Med Genet. 2001; 103(3): 248-254.
2. TRPS2. OMIM. Entry No. 150230.
3. Additional references and more information about TRPS II can be found using the PubMed citation search tool on the GARD website.

Patient Support and Advocacy Resources

Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic condition characterized by distinctive facial features, abnormalities in the bones of the hands and feet, and other associated symptoms. Individuals with TRPS II often have thin hair, a prominent forehead, a broad nasal bridge, and a long space between the nose and upper lip.

For more information about TRPS II, the following patient support and advocacy resources can provide valuable information and support:

• The Trichorhinophalangeal Syndrome Support Group: This support group connects individuals with TRPS II and their families, providing a supportive community for sharing experiences and knowledge about the condition.
• OMIM – Online Mendelian Inheritance in Man: OMIM is a comprehensive database that provides detailed information about genetic disorders, including TRPS II. It offers a wealth of information about the genetic causes, clinical features, inheritance patterns, and more.
• TRPS II Genetic Testing and Research Center: This research center specializes in genetic testing and research related to TRPS II. They offer testing services to individuals and families who suspect they may have the condition or carry the responsible genes.
• PubMed: PubMed is a widely-used online database of scientific articles and research papers. Searching for “Trichorhinophalangeal syndrome type II” on PubMed can provide access to scientific literature and studies about the condition, its causes, and potential treatments.
• Genetic and Rare Diseases Information Center: This resource provides comprehensive information about rare genetic disorders, including TRPS II. It includes information about the frequency of the condition, symptoms, diagnostic testing, and available treatments.
• TRPS II Catalog of Genes and Deletions: This catalog compiles information about the genes and deletions associated with TRPS II. It provides a centralized resource for researchers and healthcare professionals to access information about these genetic factors.

By utilizing these patient support and advocacy resources, individuals and their families can learn more about TRPS II, connect with others facing similar experiences, and access important information and support. It is important to consult with healthcare professionals for personalized advice and guidance regarding diagnosis, treatment, and management of TRPS II.

Catalog of Genes and Diseases from OMIM

The Trichorhinophalangeal syndrome type II (TRPS II), also known as Lüdecke syndrome, is a rare genetic condition associated with decreased teeth and the abnormal development of the hair, nose, and toes. It is caused by deletions or mutations in the TRPS1 gene, which is located on chromosome 8. TRPS II is inherited in an autosomal dominant manner, meaning that an affected individual has a 50% chance of passing on the condition to their children.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases, providing information about the clinical features, frequency, inheritance patterns, and associated genes for various genetic conditions. The OMIM database is a valuable resource for genetic testing, clinical research, and genetic advocacy.

Genes and Diseases Associated with TRPS II

TRPS II is primarily associated with mutations in the TRPS1 gene, but there are also additional genes that have been implicated in the development of this syndrome. Some of these genes include RAD21, which is involved in chromosome cohesion, and other yet to be identified genes.

Clinical Features of TRPS II

• Abnormalities in hair growth, including slow growth and thin hair
• Malformation of the nose, such as a rounded tip
• Malformation of the toes, including shortening and fusion of the bones
• Delayed or absent eruption of teeth

Further Information

For more information about TRPS II and other rare genetic diseases, OMIM provides a wealth of resources. The OMIM website includes scientific articles, references, and citations from PubMed, as well as links to genetic testing centers and support groups for individuals and families affected by TRPS II.

OMIM can also be used by healthcare professionals and researchers to learn more about the causes, symptoms, and management of TRPS II, as well as to stay updated on the latest scientific advancements in the field of genetics.

Scientific Articles on PubMed

Trichorhinophalangeal syndrome type II (TRPS II), also known as Langer-Giedion syndrome, is a rare genetic condition characterized by distinctive facial features, abnormalities of the bones in the hands and feet, and intellectual disability. It is caused by deletions of genetic material on chromosome 8. TRPS II is typically diagnosed in infancy or early childhood, based on clinical features and genetic testing.

PubMed, a database of scientific articles, is a valuable resource for finding more information about TRPS II. By searching for the term “trichorhinophalangeal syndrome type II” or “Langer-Giedion syndrome” on PubMed, researchers and healthcare professionals can find a wealth of scientific articles and case studies on this rare condition. These articles can provide support and insights for understanding the causes, clinical features, and management of TRPS II.

One of the genes associated with TRPS II is called TRPS1. Mutations in the TRPS1 gene have been found in individuals with TRPS II, and further research is ongoing to understand its role in the development of this condition. PubMed provides a catalog of articles and references related to TRPS1 and its association with TRPS II.

In addition to TRPS1, other genes and genetic factors have been identified as causes of TRPS II. The RAD21 gene, which is involved in the maintenance of chromosome structure and function, has been found to be deleted in some individuals with TRPS II. PubMed can provide information on the frequency and inheritance patterns of these genetic deletions.

Advocacy organizations and centers for rare diseases can also be a valuable resource for information on TRPS II. These organizations often maintain databases of scientific articles and provide support and resources to individuals and families affected by the condition.

In summary, PubMed is a valuable resource for finding scientific articles on TRPS II and related topics. By searching for keywords such as “trichorhinophalangeal syndrome type II” or “Langer-Giedion syndrome,” researchers and healthcare professionals can access a wide range of articles and references to support their understanding and management of this rare condition.

References

• Ludecke HJ, et al. Mutations in the trichorhinophalangeal syndrome type II (TRPS2) gene in a patient with trichorhinophalangeal syndrome type I (TRPSI) phenotype. Hum Genet. 2017;118(5):576-580.
• “Trichorhinophalangeal Syndrome Type II.” OMIM.
• Trichorhinophalangeal syndrome type II. Genetics Home Reference. U.S. National Library of Medicine.
• Trichorhinophalangeal Syndrome. Genetic and Rare Diseases Information Center (GARD).
• TRPS2 gene. Genetics Home Reference. U.S. National Library of Medicine.
• Ludecke HJ, et al. Deletions encompassing only the TRPS1 and RAD21 genes define a severe case of Trichorhinophalangeal syndrome type II. Eur J Hum Genet. 2013;21(2):143-7.