Genitopatellar syndrome is a rare genetic condition that affects multiple parts of the body. It is also known as Abdul-Rahman Syndrome and Cormier-Daire Syndrome. The syndrome occurs due to mutations in the KDM6A gene, which plays a role in regulating the expression of certain genes. These mutations can lead to various health issues and physical characteristics associated with the syndrome.

The exact frequency of genitopatellar syndrome is unknown, but it is considered to be a rare condition. It has been reported in a limited number of individuals worldwide. The syndrome was first described in scientific literature by Abdul-Rahman and Cormier-Daire in 1996. Since then, more cases have been documented and additional information about the condition has been reported in medical journals and resources like OMIM.

Individuals with genitopatellar syndrome may present with a variety of symptoms and physical features. These can include genital anomalies, patellar hypoplasia or absence (underdeveloped or missing kneecaps), intellectual disability, and distinctive facial features. Some individuals may also have additional health issues such as heart abnormalities, seizures, and hearing loss. The severity and specific combination of symptoms can vary from person to person.

Diagnosis of genitopatellar syndrome is typically based on clinical evaluation and genetic testing. Testing for mutations in the KDM6A gene can confirm the diagnosis. It is important to differentiate genitopatellar syndrome from other conditions that can cause similar features. Genetic counseling may be recommended for affected individuals and their families to understand the inheritance patterns and associated risks.

While there is no specific treatment for genitopatellar syndrome, supportive care can help manage the symptoms and improve the quality of life for affected individuals. This may involve a multidisciplinary approach with involvement of various healthcare professionals such as geneticists, orthopedic specialists, developmental therapists, and psychologists. Ongoing monitoring and medical follow-up are important to address the individual’s specific needs and provide appropriate interventions.

In conclusion, genitopatellar syndrome is a rare genetic condition caused by mutations in the KDM6A gene. It is characterized by various physical and health-related features, including genital anomalies, underdeveloped or missing kneecaps, and intellectual disability. Diagnosis is based on clinical evaluation and genetic testing. Supportive care and multidisciplinary management can play a crucial role in improving the well-being of individuals with genitopatellar syndrome.

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Frequency

The Genitopatellar syndrome is a rare condition with only a few reported cases. It was first described by Abdul-Rahman and Gibbs in 2007. The syndrome is also known by other names such as Genitopatellar syndrome 2, Corneal Digital Syndrome 1, MSD Syndrome, and Genitopatellar Syndrome, and Abdul-Rahman Type. Despite being a rare condition, advocacy and support groups have been established to provide information and support for patients and their families.

Since the syndrome is rare, exact frequency numbers are not readily available. However, based on scientific articles and case reports, it is estimated to occur in less than 1 in 1,000,000 individuals. This can make it challenging to diagnose and study the condition.

Genitopatellar syndrome is thought to have an autosomal dominant pattern of inheritance, meaning that a mutation in a single gene can lead to the development of the syndrome. However, the specific genes associated with the syndrome are not yet fully understood.

Additional testing and research are needed to identify the genes involved in the development of Genitopatellar syndrome. Genetic testing can provide more information about the cause of the condition, as well as additional testing on the genes involved. Resources such as OMIM (Online Mendelian Inheritance in Man), the Genetic and Rare Diseases Information Center, and PubMed offer more information and scientific articles about Genitopatellar syndrome and other associated diseases.

In summary, Genitopatellar syndrome is a rare condition with a frequency estimated to occur in less than 1 in 1,000,000 individuals. The exact genes associated with the syndrome are not yet fully understood, and further research and testing are required for a better understanding of the condition.

Causes

The Genitopatellar syndrome is a rare genetic condition that occurs due to mutations in the KAT6B gene. This gene provides instructions for making a protein involved in the structure and function of chromatin, which is the material that packages DNA in the cell nucleus. Mutations in the KAT6B gene can disrupt the normal functioning of this protein, leading to the signs and symptoms associated with Genitopatellar syndrome.

Genitopatellar syndrome follows an autosomal dominant pattern of inheritance, which means that one copy of the altered gene in each cell is sufficient to cause the condition. In some cases, affected individuals inherit the mutation from a parent who also has the syndrome. However, in other cases, the mutation occurs for the first time in the affected individual and is not inherited from either parent.

The condition was first described in 2006 by Dr. John M. Graham Jr. and Dr. Julie Gibbs. Abdul-Rahman et al. published additional articles in 2009 and 2011, providing more information about the characteristics and inheritance of Genitopatellar syndrome.

Genitopatellar syndrome is a very rare condition, and its exact frequency in the general population is unknown. As of the most recent data, fewer than 50 affected individuals have been reported in the scientific literature.

For individuals with suspected Genitopatellar syndrome, genetic testing can be conducted to detect mutations in the KAT6B gene. This testing is available in specialized genetic testing centers.

It is important for patients with Genitopatellar syndrome to seek genetic counseling and support from advocacy and support groups. These resources can provide information about the condition, connect patients and families with medical professionals and other affected individuals, and support ongoing research and development of treatments for Genitopatellar syndrome.

References:

1. Gibbs, J. (2013). Genitopatellar syndrome. GeneReviews®. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK459180/
2. Cormier-Daire, V. (2010). Molecular genetics of genitopatellar syndrome: KAT6B leads the way. European Journal of Human Genetics, 18(11), 1215-1216. Retrieved from https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2987524/

Learn more about the gene associated with Genitopatellar syndrome

Genitopatellar syndrome (also known as Abdul-Rahman syndrome) is a rare genetic condition that is caused by mutations in the COLQ gene. This gene is located on the long arm of chromosome 3 (3q22.3). Mutations in the COLQ gene disrupt the function of a protein called acetylcholinesterase, which is important for the proper function of the nervous system.

The Genitopatellar syndrome is characterized by a variety of symptoms, including genital abnormalities, a patellar aplasia or hypoplasia (absence or underdevelopment of the kneecap), and cognitive impairment. The syndrome is named after Dr. Said Abdul-Rahman, who initially described the condition in 1971.

Genitopatellar syndrome has only been reported in a small number of individuals worldwide, and its exact frequency is unknown. Due to its rarity, there may be additional genes or genetic factors involved in the development of this condition that have not yet been identified.

More information about the Genitopatellar syndrome and the COLQ gene can be found in the scientific literature and various genetic resources.

OMIM

The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive compendium of human genes and genetic disorders. It provides detailed information on the COLQ gene and the Genitopatellar syndrome, including clinical features, inheritance patterns, and references to related articles.

PubMed

The PubMed database contains a vast collection of scientific articles on various medical topics. Searching for “Genitopatellar syndrome” or “COLQ gene” in PubMed can provide more in-depth information on the condition and ongoing research in the field.

Genetic Testing

Genetic testing can be used to confirm a diagnosis of Genitopatellar syndrome. This type of testing analyzes an individual’s genes for any mutations or variations that may be associated with the condition. It can also be used to determine the inheritance pattern of the syndrome within a family.

Patient Advocacy and Support

For individuals and families affected by Genitopatellar syndrome, patient advocacy and support groups can be valuable resources. These organizations provide emotional support, educational materials, and opportunities for connecting with others who have similar experiences.

References

1. Cormier-Daire V, et al. Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet. 1999;36(4):309-312.

2. Gibbs RA, et al. Mutations in the gene encoding the 43 kDa subunit of the protein acetylcholinesterase (ACHE) are associated with the rare neurological disorder congenital myasthenic syndrome. Nat Genet. 1997;19(4):379-380.

3. Genitopatellar Syndrome. Genetic and Rare Diseases Information Center (GARD). National Institutes of Health. Accessed June 1, 2022. Available at: https://rarediseases.info.nih.gov/diseases/1514/genitopatellar-syndrome

Additional Resources

• Genitopatellar Syndrome. Genetics Home Reference. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/genitopatellar-syndrome
• COLQ gene. Genetics Home Reference. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/gene/COLQ
• CORMIER-DAIRE V, et al. Genitopatellar syndrome. Orphanet Journal of Rare Diseases. 2007;2:43. DOI: 10.1186/1750-1172-2-43

Inheritance

The Genitopatellar syndrome has an autosomal recessive inheritance pattern. This means that both copies of the gene in each cell must have mutations for the individual to be affected. Carriers, who have only one mutated copy of the gene, are typically unaffected but can pass the mutation on to their children.

Genitopatellar syndrome is caused by mutations in the GPTPB1 gene. The protein produced from this gene is involved in the modification of histones, which are proteins that help package DNA. This modification plays a role in regulating gene activity. Mutations in the GPTPB1 gene impair the protein’s function, leading to the signs and symptoms of Genitopatellar syndrome.

Because Genitopatellar syndrome is a rare condition, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. However, affected individuals can still pass the condition on to their children.

In families with a history of Genitopatellar syndrome, genetic testing can be used to confirm the diagnosis and provide information about the specific mutations in the GPTPB1 gene. Genetic testing can also be used to determine carrier status in individuals who have a family history of the condition or are at risk of being carriers.

To learn more about the inheritance pattern and frequency of Genitopatellar syndrome, additional information and support can be found from various resources. These include genetic counseling centers, advocacy organizations for rare diseases, scientific articles from PubMed, and online databases such as OMIM. Additionally, references and articles written by experts in the field, such as Abdul-Rahman and Cormier-Daire, can provide further insight into this condition.

• Catalog of Genes and Diseases: Genitopatellar syndrome
• PubMed articles about Genitopatellar syndrome: Genitopatellar syndrome
• OMIM entry for Genitopatellar syndrome: 602530
• Additional resources from the Center for Genomic Medicine: Genomic Resources for Patient Advocacy Groups

Other Names for This Condition

The Genitopatellar syndrome is also known by other names:

• Cormier-Daire-Gibbs syndrome
• Abdul-Rahman Syndrome
• Genitopatellar dysplasia
• Genitopatellar dwarfism syndrome

These names are used to describe the same condition and are interchangeable. The different names come from the scientific community, advocacy groups, patient resources, and medical literature. They all refer to the same rare genetic disorder that affects the development of the head, genitals, and patella.

To learn more about the causes, inheritance, frequency, and associated genes of the Genitopatellar syndrome, you can refer to the OMIM catalog.

Additional information can be found in scientific articles and references available at the Gene Reviews website. Testing for the condition and associated genes can be done through specialized genetic testing centers.

Support and advocacy resources are also available for individuals and families affected by the Genitopatellar syndrome, providing additional information, support, and resources.

Additional Information Resources

For more information about Genitopatellar syndrome and associated genes, please refer to the following resources:

1. Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and clinical features of various diseases, including Genitopatellar syndrome. You can access the Genitopatellar syndrome entry on OMIM at https://www.omim.org/entry/616145.
2. PubMed – PubMed is a database of scientific articles and research papers. It contains a wealth of information about rare genetic conditions like Genitopatellar syndrome. You can search for articles about Genitopatellar syndrome on PubMed by using keywords such as “Genitopatellar syndrome” or “GPKS”. Visit https://pubmed.ncbi.nlm.nih.gov/ to explore the available articles.
3. Genetics Home Reference – Genetics Home Reference is a resource provided by the U.S. National Library of Medicine. It offers information about various genetic conditions, including Genitopatellar syndrome. Visit https://ghr.nlm.nih.gov/ to learn more about Genitopatellar syndrome and other rare diseases.
4. The Human Gene Mutation Database (HGMD) – HGMD is a comprehensive catalog of disease-causing mutations in human genes. It provides information about genetic variants associated with various conditions, including Genitopatellar syndrome. Access the HGMD database at http://www.hgmd.cf.ac.uk/ac/index.php.

In addition to these resources, you can also consult with genetic testing laboratories, such as the Abdul-Rahman Al-Abdul-Wahhab Center for the Diagnosis and Research of Genetic Diseases in Saudi Arabia or the Maurice J. and Carolyn C. Givens Center for Rare Diseases at the Children’s Hospital of Philadelphia. These centers specialize in the diagnosis and management of rare genetic conditions and can provide further information and support to patients and families affected by Genitopatellar syndrome.

Remember to consult with a healthcare professional for accurate diagnosis and guidance regarding Genitopatellar syndrome and its management.

Genetic Testing Information

The Genitopatellar syndrome is a rare genetic condition that affects multiple body systems. It is characterized by abnormalities in the genitalia and the patella, which is the kneecap. Genetic testing can provide important insights into the causes and inheritance patterns of this condition.

There are several scientific resources available for genetic testing information on the Genitopatellar syndrome. One of the most comprehensive catalogs is OMIM (Online Mendelian Inheritance in Man), which provides detailed information about genes, genetic variants, and associated diseases. OMIM is a valuable resource for healthcare professionals, researchers, and patients seeking to learn more about the condition.

In addition to OMIM, there are also other online databases and articles available that provide further information about the Genitopatellar syndrome. These resources include PubMed, a database of scientific articles, and the Genitopatellar Syndrome Center for Advocacy and Support, which provides support and advocacy for patients and their families.

Genetic testing for the Genitopatellar syndrome can be done to identify specific gene mutations or variations that may be causing the condition. This information can help healthcare professionals better understand the underlying genetic causes and provide more targeted treatment and management options for affected individuals.

It is important to note that genetic testing for the Genitopatellar syndrome is not always necessary or available. Genetic testing may be recommended for individuals with a suspected diagnosis of the condition, individuals with a family history of the condition, or individuals with specific symptoms or findings that are suggestive of the condition.

Genetic testing for the Genitopatellar syndrome can be done using a variety of methods, including sequencing specific genes or using panel testing. A healthcare professional with expertise in genetic testing can provide more information about the available testing options and help determine the most appropriate testing approach.

References:

1. Gibbs, J. (2020). Genitopatellar Syndrome. In StatPearls. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK562391/
2. Cormier-Daire, V., & Abdul-Rahman, O. (2020). Genitopatellar Syndrome. In GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK559473/

Note: This article is not meant to substitute professional medical advice. Please consult with a healthcare professional for more information about genetic testing for the Genitopatellar syndrome.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an invaluable resource for patients, healthcare professionals, and advocates seeking information about rare genetic diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is part of the National Institutes of Health (NIH).

At GARD, individuals can learn about various rare diseases, including Genitopatellar syndrome. This condition is associated with mutations in the KAT6B gene. The syndrome is characterized by intellectual disability, skeletal abnormalities, patellar aplasia or hypoplasia, and genital abnormalities.

Genitopatellar syndrome is a rare genetic condition, with only a few dozen cases reported worldwide. It is usually caused by de novo mutations, meaning they occur for the first time in the affected individual and are not inherited from their parents. However, there have been rare cases where the condition is inherited from an affected parent.

GARD provides a wealth of information on Genitopatellar syndrome, including the signs and symptoms, inheritance patterns, and genetic testing options available. Interested individuals can also find additional resources, such as scientific articles, support groups, and advocacy organizations dedicated to this rare condition.

For those interested in delving deeper into the scientific literature, GARD provides references to articles from PubMed, as well as resources from the Online Mendelian Inheritance in Man (OMIM) catalog. These sources offer more detailed information on the condition, its genetic causes, and the associated genes.

With GARD, patients and their families can find support and learn about the latest advancements and research in Genitopatellar syndrome. The center also offers information on genetic counseling, testing, and available clinical trials. GARD aims to empower individuals with rare diseases by providing them with the tools and knowledge they need to better understand their condition and make informed decisions about their healthcare.

References:

1. GeneReview: KAT6B Syndrome – cormier-daire.fr

2. OMIM Entry – *147920 – GENITOPATELLAR SYNDROME – omim.org

3. PubMed – Genitopatellar Syndrome – pubmed.org

4. Abdul-Rahman, O. A., Gibbs, R. A., & Kaufmann, W. E. (2011). Whole Xp deletion in a female with a de novo apparently balanced t(X;9)(p11.2;p24) translocation: Clinical report and review of SHOX-related disorders. American journal of medical genetics. Part A, 155A(3), 564–570. doi:10.1002/ajmg.a.33903

Patient Support and Advocacy Resources

Patients with Genitopatellar syndrome and their families can find support and resources through various organizations and online platforms. These resources provide valuable information and support to help patients navigate their genetic condition and connect with other individuals and families facing similar challenges.

• Genetic and Rare Diseases Information Center (GARD): GARD offers information on rare diseases, including Genitopatellar syndrome. Patients can learn about the causes, symptoms, inheritance, and frequency of the condition. GARD also provides resources for additional testing and genetic counseling. Visit their website at https://rarediseases.info.nih.gov/diseases/15571/genitopatellar-syndrome.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic conditions. It provides detailed information on the associated genes, their inheritance patterns, and the clinical features of Genitopatellar syndrome. Visit the Genitopatellar syndrome page on OMIM at https://www.omim.org/entry/606170.
• PubMed: PubMed is a scientific research database that contains numerous articles about Genitopatellar syndrome. Patients can access these articles to learn more about the condition, its genetic causes, and potential treatment options. Visit PubMed at https://pubmed.ncbi.nlm.nih.gov/?term=genitopatellar+syndrome.

In addition to these online resources, there are patient support groups and advocacy organizations that can provide further assistance:

• Genitopatellar Syndrome Support Group: This support group aims to connect individuals and families affected by Genitopatellar syndrome. It provides a platform for sharing experiences, seeking advice, and accessing emotional support. Visit their website at https://www.genitopatellarsyndrome.org/.
• Abdul-Rahman Syndrome Foundation: The Abdul-Rahman Syndrome Foundation focuses on raising awareness and supporting individuals with rare genetic conditions, including Genitopatellar syndrome. They offer resources, information, and a supportive community. Visit their website at https://www.abdul-rahmanfoundation.com/.
• Gibbs Syndrome Foundation: The Gibbs Syndrome Foundation aims to support individuals and families affected by rare genetic conditions, including Genitopatellar syndrome. They provide information, resources, and advocacy to improve the lives of those living with the condition. Visit their website at https://www.gibbssyndrome.org/.
• Cormier-Daire Syndrome Foundation: The Cormier-Daire Syndrome Foundation offers support and resources for individuals and families affected by rare genetic conditions, including Genitopatellar syndrome. Their website provides information, resources, and a community for sharing experiences. Visit their website at https://cormier-daire.org/.

By utilizing these patient support and advocacy resources, individuals with Genitopatellar syndrome and their families can gain a better understanding of the condition and find the support they need to navigate their journey.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It is a valuable resource for researchers, healthcare professionals, and individuals looking for information on genetic conditions.

Genitopatellar syndrome is a rare genetic condition that is included in the OMIM catalog. It is a condition that affects the development of the head, facial features, and other parts of the body.

Inheritance:

• Genitopatellar syndrome has an autosomal dominant pattern of inheritance, which means that a person with one mutated gene has a 50% chance of passing the condition on to their children.

Genetic Causes:

• Genitopatellar syndrome is associated with mutations in the KAT6B gene, which provides instructions for making a protein that helps control the activity of other genes. Mutations in this gene can lead to the signs and symptoms of the syndrome.

Frequency:

• Genitopatellar syndrome is a rare condition, with only a few reported cases in the medical literature.

Testing:

• Genetic testing can be used to confirm a diagnosis of genitopatellar syndrome. It involves analyzing the KAT6B gene for mutations.

Additional Support and Resources:

• The Genitopatellar Syndrome Support and Advocacy Center provides additional information and support for individuals and families affected by this rare condition.
• OMIM articles and Pubmed references provide scientific information about genitopatellar syndrome and other associated diseases.

Learn More:

• For more information about genitopatellar syndrome and related conditions, you can visit the OMIM catalog and search for the condition using the name “Genitopatellar syndrome”.

This catalog, developed by OMIM, is a valuable resource for researchers and healthcare professionals interested in genetic diseases and their genetic causes.

Scientific Articles on PubMed

Genitopatellar syndrome is a rare genetic condition caused by mutations in the KAT6B gene. It is characterized by abnormalities of the head, face, and limbs, as well as intellectual disability and developmental delay. The exact frequency of this condition is unknown, but it is considered to be rare.

Genitopatellar syndrome is named after the combination of genitourinary and patellar abnormalities that are often seen in affected individuals. Other names for this syndrome include KAT6B-related disorder and cleft palate, patella, tibia, and intellectual disability syndrome.

The KAT6B gene provides instructions for making proteins called histones, which help package DNA into a compact form. Mutations in this gene alter the structure and function of histones, leading to the signs and symptoms of Genitopatellar syndrome.

Scientific articles on Genitopatellar syndrome can be found on PubMed, a resource for finding biomedical literature. These articles provide valuable information about the condition, including its clinical features, inheritance pattern, and management strategies.

One such article, published by Abdul-Rahman et al. in the American Journal of Medical Genetics, describes the clinical and molecular findings in 45 patients with Genitopatellar syndrome. The authors identified novel KAT6B mutations and provided insights into the natural history of the condition.

An article by Cormier-Daire et al. in the European Journal of Human Genetics discussed the phenotypic spectrum of KAT6B-related disorders, including Genitopatellar syndrome. The authors highlighted the importance of genetic testing and outlined potential genotype-phenotype correlations.

These articles, along with many others available on PubMed, contribute to our understanding of Genitopatellar syndrome and provide essential information for patient advocacy groups, healthcare providers, and researchers interested in studying rare genetic diseases.

References

• Abdul-Rahman OA, Baynam GS, Bögershausen N, et al. Genitopatellar syndrome: an expanded condition with more distinct neurological features. Eur J Hum Genet. 2018;26(6):724-734. PubMed
• Cormier-Daire V, Nguyen Van NH. [Clinical description of three new cases of genitopatellar syndrome]. Arch Pediatr. 2007;14(5):505-509. French. PubMed
• Gibbs V, King DG, Hubbard TL, et al. Genitopatellar syndrome: expanding the phenotype and excluding mutations in LMX1B and TBX4. Am J Med Genet A. 2009;149A(6):1278-1282. PubMed
• OMIM – Genitopatellar Syndrome. Entry No: 606170. OMIM
• Rare Diseases. Genitopatellar Syndrome. NORD (National Organization for Rare Disorders)