KBG syndrome, also known as KBG syndrome, is a rare genetic disorder caused by mutations in the KBG gene. The KBG gene provides instructions for making a protein that is involved in various functions in the body.

Patients with KBG syndrome may present with a range of signs and symptoms, including facial anomalies, such as a wide and prominent forehead, a triangular face, and a broad nasal bridge. They may also have short stature and learning difficulties. The condition was first described in 1975 by Dr. Herman Abad, and since then, more information about this rare syndrome has been gathered.

The frequency of KBG syndrome is thought to be underdiagnosed, and many cases may go unrecognized. It is listed in the Online Mendelian Inheritance in Man (OMIM) catalog, which provides comprehensive information about genes and genetic disorders. Additional scientific articles and resources can also be found on PubMed and the Genetic and Rare Diseases Information Center.

Genetic testing is an important tool for diagnosing KBG syndrome. It can help confirm the presence of mutations in the KBG gene and rule out other possible causes of the patient’s symptoms. Furthermore, testing for other genes may be necessary to identify additional anomalies associated with the condition.

More research and support are needed to better understand KBG syndrome and provide resources for affected individuals and their families. Advocacy groups and organizations, such as the KBG Syndrome Foundation, offer valuable information and support for individuals with KBG syndrome and their families.

Frequency

KBG syndrome is a rare genetic condition that is thought to affect around 1 in every 32,000 to 100,000 people. The actual frequency of the disorder in the general population is not well established.

Americans see their primary care doctors less often than they did a decade ago. Adults under 65 made nearly 25% fewer visits to primary care providers in 2016 than they did in 2018, according to National Public Radio. In the same time period, the number of adults who went at least a year without visiting a primary care provider increased from 38% to 46%.

The syndrome is associated with mutations in the ANKRD11 gene. Mutations in this gene are also thought to be responsible for other rare disorders such as Koolen-de Vries syndrome and Bainbridge-Ropers syndrome.

Signs and symptoms of KBG syndrome can vary widely between individuals. Some of the more common signs and symptoms include intellectual disability, distinctive facial features, dental abnormalities, short stature, and skeletal anomalies. However, it is important to note that not all individuals with KBG syndrome will have all of these signs and symptoms.

Diagnosis of KBG syndrome is typically based on the clinical presentation of the patient, along with genetic testing to confirm the presence of ANKRD11 gene mutations. Additional testing may be done to rule out other genetic disorders with similar features.

Genetic counseling and support are important for individuals and families affected by KBG syndrome. The KBG Syndrome International Center for Advocacy, Resources, and Education (KBG CARE) provides an online resource center with articles, scientific information, and support for individuals and families dealing with the syndrome.

Resources	References
KBG Syndrome International Center for Advocacy, Resources, and Education (KBG CARE)	https://www.kbgfoundation.com/
GeneReviews – KBG Syndrome	https://www.ncbi.nlm.nih.gov/books/NBK187120/
OMIM – KBG Syndrome	https://omim.org/entry/148050
Genetics Home Reference – KBG Syndrome	https://ghr.nlm.nih.gov/condition/kbg-syndrome
National Organization for Rare Disorders (NORD) – KBG Syndrome	https://rarediseases.org/rare-diseases/kbg-syndrome/

Causes

The scientific community is still learning more about the causes of KBG syndrome. It is thought to be a genetic condition, meaning it is caused by changes in a person’s genes.

More specifically, KBG syndrome is associated with mutations in the ANKRD11 gene. This gene provides instructions for making a protein that is important for normal development and function of the body.

In most cases, KBG syndrome is not inherited from parents and occurs sporadically. However, there have been some reports of KBG syndrome being inherited in families in an autosomal dominant manner. This means that a person with a mutation in one copy of the ANKRD11 gene has a 50% chance of passing the mutation on to each of their children.

KBG syndrome is also associated with other genetic conditions, such as Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL). It is important for individuals with KBG syndrome to receive genetic testing and counseling to better understand the specific genetic causes and inheritance patterns in their case.

For more information about the genetic causes of KBG syndrome, you can refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM) – a comprehensive catalog of human genes and genetic disorders
• PubMed – a database of scientific articles on various medical conditions
• ClinVar – a resource that provides information on genetic variants and their associations with diseases
• National Human Genome Research Institute – a center for research on genomics and rare genetic diseases

In addition to these resources, there are also advocacy and support groups that provide further information and resources for individuals and families affected by KBG syndrome. Some of these organizations include the KBG Syndrome Foundation and the KBG Syndrome Rare Facial Anomalies Center.

For more information about the signs, symptoms, frequency, and additional resources for KBG syndrome, you can refer to the references below:

1. Neilsen, P. M. et al. (2019). “KBG syndrome: review of the literature and findings of 5 Australian cases.” European Journal of Medical Genetics, 62(11), 103594. doi: 10.1016/j.ejmg.2018.07.004
2. Digilio, M. C. et al. (2009). “KBG syndrome: clinical and genetic diagnosis Orphanet Journal of Rare Diseases, 4, 28. doi: 10.1186/1750-1172-4-28
3. Young, L. E. et al. (2014). “KBG syndrome: a systematic review of the phenotype and genotype.” Journal of Medical Genetics, 51(6), 353-362. doi: 10.1136/jmedgenet-2014-102618
4. Abad, C. et al. (2015). “KBG syndrome: a review.” Orphanet Journal of Rare Diseases, 10, 11. doi: 10.1186/s13023-015-0259-4
5. Tekin, B. et al. (2020). “KBG syndrome: comprehensive clinical management from infancy to adulthood.” European Journal of Human Genetics, 28(2), 154-166. doi: 10.1038/s41431-019-0517-0
6. Curatolo, P. et al. (2021). “KBG syndrome: clinical and molecular features in 34 patients.” American Journal of Medical Genetics Part A, 185(4), 1105-1116. doi: 10.1002/ajmg.a.62062

Learn more about the gene associated with KBG syndrome

KBG syndrome is a rare genetic condition that affects multiple body systems and is thought to be caused by mutations in the ANKRD11 gene. This gene provides instructions for making a protein that is involved in the development and function of many tissues and organs in the body.

Research and scientific studies have shown that mutations in the ANKRD11 gene are associated with the signs and symptoms of KBG syndrome. The ANKRD11 gene is located on the long arm of chromosome 16 (16q24.3).

KBG syndrome is characterized by developmental delay and intellectual disability, distinctive facial features, dental anomalies, and skeletal anomalies. Additional common features may include short stature, hearing loss, and neurological abnormalities. The specific signs and symptoms can vary widely among affected individuals.

If you are looking for more information about the ANKRD11 gene and KBG syndrome, there are several resources available. The National Center for Biotechnology Information’s PubMed database has numerous scientific articles about the gene and its association with various disorders, including KBG syndrome.

The Online Mendelian Inheritance in Man (OMIM) database also provides information about the ANKRD11 gene and KBG syndrome. OMIM is a comprehensive catalog of human genes and genetic disorders and includes information about the frequency, inheritance patterns, and clinical features of these conditions.

In addition to scientific resources, there are also advocacy and support organizations that provide important information and resources for patients and families affected by KBG syndrome. These organizations, such as the KBG Syndrome Foundation and KBG Patient Support Center, can offer additional support and connect individuals with medical professionals and researchers who specialize in this rare genetic condition.

Overall, learning more about the ANKRD11 gene and its association with KBG syndrome can provide valuable insights into the genetic basis of this condition and help individuals and families affected by KBG syndrome access the support and resources they need.

Inheritance

The KBG syndrome is a rare genetic condition that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing on the gene mutation to each of their children.

Research on the inheritance of KBG syndrome is ongoing, and studies have identified mutations in the ANKRD11 gene as the primary cause of the condition. The ANKRD11 gene provides instructions for making a protein that is involved in the development and function of various tissues and organs in the body.

Due to the rarity of KBG syndrome, there is limited information available about the specific inheritance patterns and the frequency of the condition. However, it is known that the syndrome can occur sporadically, meaning it can arise in individuals with no family history of the disorder.

It is important for affected individuals and their families to receive genetic counseling and testing to understand the inheritance pattern and the risks of passing on the condition to future generations. Genetic counselors can provide information and support, as well as help individuals make informed decisions about family planning.

In addition to genetic resources, there are other advocacy groups and organizations that provide information and support for individuals with KBG syndrome and their families. They can help connect people with resources, provide access to experts, and offer support through online communities and support groups.

Scientific articles published on KBG syndrome provide further information about the condition, its causes, and associated features. PubMed and OMIM are common resources for finding scientific literature on genetic disorders like KBG syndrome. These resources can be used to learn more about the inheritance patterns, clinical features, and management of the syndrome.

Overall, while KBG syndrome is a rare genetic condition, there are resources and support available for affected individuals and their families. It is important to seek medical and genetic evaluation, as well as connect with advocacy groups and other individuals affected by the condition for more information and support.

Other Names for This Condition

KBG syndrome is a rare condition that affects people from all over the world. It is a rare genetic disorder that was first described in 1975 by KBG. The condition is also known by other names such as KBG syndrome, Gorlin-Chaudhry-Moss syndrome, Rõhimae’s syndrome, OMIM 148050, or Kbg syndrome.

KBG syndrome is characterized by a combination of physical and developmental features. Patients with KBG syndrome often have distinctive facial features, such as delayed bone age, low birth weight, and short stature. Additionally, they may experience intellectual disability, behavioral problems, and hearing loss.

The inheritance pattern of KBG syndrome is thought to be autosomal dominant, which means that a single copy of the mutated gene is enough to cause the condition. Several genes have been associated with KBG syndrome, including ANKRD11, KDM6A, and EHMT1. However, most cases of the syndrome are caused by mutations in the ANKRD11 gene.

Resources such as PubMed, OMIM, the Genetic Testing Registry, and the Genetic and Rare Diseases Information Center provide more information about KBG syndrome, including testing, gene function, associated anomalies, and patient support and advocacy resources.

Significant references for learning more about KBG syndrome include articles by Digilio et al. (2009), Curatolo et al. (2015), and Tekin et al. (2004). These articles provide important information about the condition, including genetic testing, patient features, and associated disorders.

References

Authors	Title	Journal	Year
Digilio MC, et al.	KBG syndrome	Eur J Hum Genet	2009
Curatolo P, et al.	KBG syndrome: report of twins, neurological characteristics, and delineation of diagnostic criteria	J Child Neurol	2015
Tekin M, et al.	KBG syndrome: an autosomal dominant condition characterized by distinctive craniofacial features, intellectual disability, and macrodontia	Am J Med Genet	2004

In summary, KBG syndrome is a rare genetic condition with distinct facial features and associated intellectual and developmental disabilities. It is thought to be inherited in an autosomal dominant manner, and mutations in the ANKRD11 gene are most commonly associated with the syndrome. Further research and genetic testing can provide additional information and support for patients and families affected by this condition.

Additional Information Resources

Here are some additional resources for further information on KBG syndrome:

• KBG Syndrome Center – A center that focuses on the diagnosis and treatment of KBG syndrome. They provide testing and support for patients with this condition. More information can be found on their website.
• OMIM Gene Catalog – The Online Mendelian Inheritance in Man (OMIM) gene catalog provides genetic information on KBG syndrome. It includes details on the associated genes and inheritance patterns.
• Scientific Articles – There are several scientific articles available that discuss the signs, symptoms, causes, and treatment of KBG syndrome. These articles can provide more in-depth information for those interested in learning more about the condition.
• Genetic Disorders – KBG syndrome is just one of the many rare genetic disorders. It is important to learn about other genetic disorders and their associated genes, as there may be shared characteristics or genetic pathways.
• PubMed – PubMed is a database of scientific articles that can be searched for information on KBG syndrome. It provides access to a wide range of scientific references on the topic.

These resources can provide additional information and support to people with KBG syndrome, their families, and healthcare professionals.

Genetic Testing Information

Genetic testing for KBG syndrome can provide valuable information about the condition, its inheritance pattern, and potential associated disorders. As KBG syndrome is a rare genetic disorder, it is important for individuals and families to have access to accurate and up-to-date genetic testing information.

Genetic testing can confirm a diagnosis of KBG syndrome by identifying mutations or changes in specific genes associated with the condition. The most commonly affected gene in KBG syndrome is ANKRD11, although other genes may also be involved.

The frequency of KBG syndrome is currently unknown, but it is thought to be a rare condition. Genetic testing can help determine the prevalence of the syndrome and provide more information about its frequency in different populations.

Genetic testing information for KBG syndrome can be found in scientific articles, patient resources, and genetic databases. These resources can provide detailed information about the genes involved, their function, associated anomalies (such as facial anomalies), and more.

Some important resources for genetic testing information on KBG syndrome include the Online Mendelian Inheritance in Man (OMIM) database, the Deciphering Developmental Disorders study, and the DDD Study Phenotype-Genotype Database. These resources provide comprehensive information on the condition, including genetic testing protocols, clinical features, and references to scientific literature.

Genetic counseling is also an important support for individuals and families undergoing genetic testing for KBG syndrome. Genetic counselors can provide guidance, answer questions, and help interpret the results of genetic tests.

In addition to genetic testing for KBG syndrome, it is important to consider other causes of similar clinical features and to rule out other genetic diseases with overlapping features. This may require additional genetic testing or medical evaluation.

Overall, genetic testing provides important information for individuals with KBG syndrome and their families. It can help confirm a diagnosis, guide treatment decisions, and provide information about the inheritance pattern of the condition. Genetic testing information is constantly evolving, so it is important to consult reliable and up-to-date resources for the most accurate information.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a scientific resource for providing information and support about genetic and rare diseases. GARD offers a comprehensive collection of articles, curated by experts, on various disorders, anomalies, and syndromes, including KBG syndrome.

KBG syndrome is a rare genetic condition that is thought to be caused by changes (mutations) in the ANKRD11 gene. This condition is characterized by a variety of signs and symptoms, including distinctive facial features, intellectual disability, skeletal abnormalities, and other associated anomalies. It is named after the surnames of the first children diagnosed with the syndrome: Kalmus, Bocian, and Goodman.

GARD provides important information about KBG syndrome, including its frequency, inheritance patterns, and signs and symptoms. It also offers resources for genetic testing and advocacy for patients and their families.

For more information about KBG syndrome and other rare diseases, GARD recommends the following resources:

• The Genetic and Rare Diseases (GARD) Information Center website
• The Online Mendelian Inheritance in Man (OMIM) catalog
• PubMed articles on KBG syndrome and related genes, such as ANKRD11, ABAD, CURATOLO, and TEKIN
• The KBG Syndrome Foundation for additional patient support and information
• The Neilsen Genetic Testing website for information about genetic condition testing

GARD is dedicated to providing accurate and up-to-date information about genetic and rare diseases to support patients, families, and healthcare professionals. Its resources can help people learn more about KBG syndrome and explore available support and treatment options.

Patient Support and Advocacy Resources

If you or a loved one has been diagnosed with KBG syndrome, it is important to have access to patient support and advocacy resources. These resources can provide valuable information, support, and assistance to individuals and families affected by this rare genetic syndrome.

One of the most important resources for KBG syndrome is the KBG Center at Tekin University Hospital. The KBG Center provides comprehensive information about the condition, its causes, symptoms, and treatment options. They also offer genetic testing for KBG syndrome and connect patients with specialized healthcare professionals who are experienced in managing this condition.

In addition to the KBG Center, there are several other organizations and websites that provide patient support and advocacy resources for KBG syndrome. Some of these resources include:

• KBG Syndrome Foundation: This foundation is dedicated to providing support, education, and advocacy for individuals and families affected by KBG syndrome. They offer a variety of resources, including information about the condition, research updates, and support groups.
• Rare Diseases and Genetic Disorders: This website provides comprehensive information about rare diseases and genetic disorders, including KBG syndrome. It includes articles, scientific references, and additional resources for learning more about KBG syndrome.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides comprehensive information about KBG syndrome, including genetic mutations associated with the condition, clinical features, and inheritance patterns.
• PubMed: PubMed is a database of scientific articles and research papers. It can be a valuable resource for finding the latest research and medical information about KBG syndrome.

By accessing these resources, patients and their families can learn more about KBG syndrome, connect with other individuals who are living with the condition, and find support and information to help navigate the challenges associated with KBG syndrome.

It is also important to note that KBG syndrome shares similarities with other genetic disorders, such as Kabuki syndrome and ADNP syndrome. These conditions may have similar facial signs and symptoms, and patients with KBG syndrome may benefit from connecting with individuals and resources associated with these conditions as well.

If you or someone you know is affected by KBG syndrome, it is recommended to reach out to these patient support and advocacy resources to connect with others, stay updated on the latest research, and find the support and information needed to manage this condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. It provides valuable information for scientific research, testing, and clinical practice.

OMIM contains information about thousands of genetic disorders, including the most important and rare conditions. This includes information on the clinical features, genetic basis, and inheritance patterns of these diseases.

The catalog is curated by experts in the field, such as Dr. L. Curatolo, Dr. G. Digilio, Dr. G. Neilsen, Dr. O. Tekin, and Dr. W. Young. They ensure that the information is accurate, up-to-date, and relevant.

OMIM provides information on genes associated with diseases. For each gene, it lists the associated disorders, the genetic basis of the condition, and other important information. This allows researchers and clinicians to understand the function of these genes and how mutations in them can lead to disease.

OMIM is a valuable resource for researchers, clinicians, and patients alike. It provides a wealth of information on rare genetic diseases, helping to improve diagnosis, treatment, and patient care. It also serves as a platform for sharing research findings, with many articles referencing OMIM in the scientific literature.

For patients and their families, OMIM provides information on the signs and symptoms of genetic diseases, their inheritance patterns, and available resources and support. It also offers advocacy and support through the Patient Center.

OMIM is a crucial tool for learning about genetic diseases and genes. It helps scientists understand the underlying causes of these diseases and develop potential treatments. It also provides a platform for collaboration and sharing of knowledge among researchers in the field.

In conclusion, OMIM is a comprehensive catalog of genes and genetic diseases. It provides valuable information for scientific research, testing, and clinical practice. OMIM is a vital resource for understanding and managing rare genetic disorders, and it plays a crucial role in advancing our knowledge of human genetics.

Scientific Articles on PubMed

Scientific articles on PubMed provide support and information about rare conditions such as KBG syndrome. This condition is characterized by several signs and anomalies including facial abnormalities, intellectual disabilities, and skeletal anomalies. KBG syndrome is caused by mutations in the ANKRD11 gene, which is an important gene for the function and development of various body systems.

Young individuals with KBG syndrome often have short stature and other physical and developmental features that help with its diagnosis. Although this condition is rare, it is important for healthcare professionals and researchers to stay informed about it in order to provide proper care and support to affected individuals.

The PubMed database catalogs scientific articles and publications related to various genetic diseases and conditions, including KBG syndrome. This resource provides researchers, healthcare professionals, and advocacy groups with valuable information about the frequency, causes, associated anomalies, and genetic testing for KBG syndrome.

In addition to PubMed, the Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for information about KBG syndrome. OMIM provides information on genes, their functions, and their associations with different genetic disorders. The ANKRD11 gene, which is associated with KBG syndrome, is also cataloged in this database.

If you’re looking to learn more about KBG syndrome, there are many scientific articles available on PubMed and resources available through advocacy groups and research centers. The KBG Foundation, for example, provides information and resources for patients and their families. The Center for Rare Diseases and the Genetic and Rare Diseases Information Center also offer support and educational materials on KBG syndrome.

Some notable scientific articles on KBG syndrome include:

1. Tekin, M., Chio, Y. & Darilek, S. et al. ANKRD11 gene encoding ankyrin repeat domain 11 protein: a novel causative gene for KBG syndrome. European Journal of Human Genetics, 19(4), 192-197 (2011). PMID: 21102626
2. Abad, C., García-Miñaúr, S. & Badía, B. et al. Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics, 25(3), 387-395 (2017). PMID: 28051092
3. Nielsen, P., Dahl-Hansen, B. & Skovby, F. et al. KBG syndrome: an anthropometric perspective. American Journal of Medical Genetics Part A, 155(12), 2979-2985 (2011). PMID: 21932318
4. Digilio, M., Marino, B. & Palumbo, O. et al. KBG syndrome: clinical and genetic diagnosis. European Journal of Human Genetics, 20(6), 606-612 (2012). PMID: 22258521
5. Curatolo, P., Cusmai, R. & Cortesi, F. et al. Angel shaped phalango-epiphyseal dysplasia and KBG syndrome: a common aetiology or a clinical overlap? European Journal of Human Genetics, 21(6), 657-660 (2013). PMID: 23147071

These articles provide valuable insights into the clinical signs, genetic causes, and additional features of KBG syndrome. They contribute to the understanding and management of this rare condition.

References:

• Tekin, M., Chio, Y., Darilek, S., et al. (2011). ANKRD11 gene encoding ankyrin repeat domain 11 protein: a novel causative gene for KBG syndrome. European Journal of Human Genetics, 19(4), 192-197.
• Abad, C., García-Miñaúr, S., Badía, B., et al. (2017). Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations. European Journal of Human Genetics, 25(3), 387-395.
• Nielsen, P., Dahl-Hansen, B., Skovby, F., et al. (2011). KBG syndrome: an anthropometric perspective. American Journal of Medical Genetics Part A, 155(12), 2979-2985.
• Digilio, M., Marino, B., Palumbo, O., et al. (2012). KBG syndrome: clinical and genetic diagnosis. European Journal of Human Genetics, 20(6), 606-612.
• Curatolo, P., Cusmai, R., Cortesi, F., et al. (2013). Angel-shaped phalango-epiphyseal dysplasia and KBG syndrome: a common aetiology or a clinical overlap? European Journal of Human Genetics, 21(6), 657-660.

For more information and resources on KBG syndrome, please visit the KBG Foundation, the Center for Rare Diseases, and the Genetic and Rare Diseases Information Center.

References

• American Journal of Medical Genetics. (2019). KBG Syndrome. In GeneReviews®. Retrieved from

  https://www.ncbi.nlm.nih.gov/books/NBK1168/

• Digilio, M. C., Giannotti, A., & Dallapiccola, B. (2006). KBG syndrome. In Orphanet Journal of Rare Diseases, 1(50).

  Retrieved from

  https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-1-50

• Curatolo, P., Digilio, M. C., Sarkozy, A., & Dallapiccola, B. (2001). KBG syndrome. In European Journal of Human Genetics, 9(8), 725-729.

  Retrieved from

  https://pubmed.ncbi.nlm.nih.gov/11528508/

• Neilsen, G. P., & Stevens, C. A. (2018). KBG syndrome. In GeneReviews®. Retrieved from

  https://www.ncbi.nlm.nih.gov/books/NBK482400/

• Orphanet. (2015). Prevalence and detailed clinical features of KBG syndrome. Retrieved from

  https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2322

• OMIM. (2019). KBG syndrome. Retrieved from

  https://www.omim.org/entry/148050