Kaufman oculocerebrofacial syndrome is a rare condition characterized by a distinct facial appearance, developmental delay, and other neurological abnormalities. It was first described in 1970 by David W. Kaufman and Robert J. Bauman. The syndrome is also known as 3q23 microdeletion syndrome or 3q23.3q24.3 microdeletion syndrome, referring to the location of the genetic deletion on chromosome 3.

The main features of Kaufman oculocerebrofacial syndrome include facial abnormalities such as a small head circumference, widely spaced eyes, and an unusually flat nasal bridge. Individuals with this condition may also have intellectual disability, delayed speech and motor development, and seizures. Other physical abnormalities may include heart defects, skeletal anomalies, and hearing loss.

The inheritance pattern of Kaufman oculocerebrofacial syndrome is unknown. Most cases reported in the scientific literature are sporadic, meaning they occur in individuals with no family history of the condition. However, a few families with multiple affected individuals have been described, suggesting that the syndrome may be inherited in some cases.

Diagnosis of Kaufman oculocerebrofacial syndrome is based on the presence of characteristic clinical features and confirmed by molecular genetic testing. A number of genes have been implicated in the development of this condition, including the UBE3B gene. Mutations in this gene are thought to be responsible for a majority of cases.

Management of Kaufman oculocerebrofacial syndrome typically involves a multidisciplinary approach to address the various symptoms and complications associated with the condition. Supportive care may include physical therapy, speech therapy, and educational interventions. Early intervention and ongoing support can greatly improve the quality of life for individuals with this syndrome and their families.

For more information and resources on Kaufman oculocerebrofacial syndrome, as well as other rare genetic diseases, the OMIM database and the Genetic and Rare Diseases Information Center can be valuable sources. These provide comprehensive information about the condition, associated genes, inheritance patterns, and other pertinent details. Further reading on the subject can be found in scientific articles and publications available on PubMed and other medical literature databases.

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Frequency

Kaufman oculocerebrofacial syndrome is a rare genetic condition with an unknown frequency. It is thought to be inherited in an autosomal recessive manner, meaning that both copies of the gene must be altered in order for the condition to be present.

There are few published articles on Kaufman oculocerebrofacial syndrome, and more research is needed to fully understand its frequency and the associated genes. However, there are some resources available for patients and their families to learn more about this rare syndrome. The OMIM (Online Mendelian Inheritance in Man) catalog and the PubMed database may have additional information on Kaufman oculocerebrofacial syndrome.

Advocacy and support groups for rare genetic diseases may also provide information and resources for individuals affected by Kaufman oculocerebrofacial syndrome. Genetic testing can help to diagnose the syndrome and provide important information about its causes and associated genes.

Some other resources that may provide information on Kaufman oculocerebrofacial syndrome include the Kaufman Center for Rare Diseases and the Genetikum Genetic information system. These resources could offer additional support and information for individuals and families affected by this condition.

Causes

The Kaufman oculocerebrofacial syndrome is a rare genetic syndrome. It is listed in the Online Mendelian Inheritance in Man (OMIM) database, where detailed information about the syndrome can be found. Genetic testing is available to confirm the diagnosis in individuals suspected of having the syndrome.

The inheritance pattern of the Kaufman oculocerebrofacial syndrome is unknown. Additional scientific articles and references can be found in PubMed and other scientific databases for more information on the genetic basis of the syndrome.

Some of the genes associated with the Kaufman oculocerebrofacial syndrome include the KIAA0196 gene. However, the etiology of the syndrome is still not fully understood. The frequency of the syndrome in the general population is unknown.

Other causes of oculocerebrofacial syndromes may include rare genetic conditions and syndromes. The Oculocerebrofacial Syndrome, Kaufman type, is just one of many rare diseases in this category.

For more information about the Kaufman oculocerebrofacial syndrome, patients and families can refer to advocacy and support resources such as the Genetic and Rare Diseases Information Center (GARD) and other patient support groups.

It is important for healthcare professionals and geneticists to stay up-to-date with the latest research and information on the Kaufman oculocerebrofacial syndrome and other related conditions to provide accurate and current information to patients and families.

Learn more about the gene associated with Kaufman oculocerebrofacial syndrome

Kaufman oculocerebrofacial syndrome is a rare genetic syndrome with an unknown inheritance pattern and frequency. It is associated with mutations in the gene designated as “Kaufman oculocerebrofacial syndrome” (also known as the “Kaufman syndrome gene”).

Currently, the information about this gene is limited. However, there are some scientific articles and other resources available to support the understanding of this rare condition. One of the reliable sources of information is the Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information about genes and genetic diseases.

In addition to the OMIM database, there are also other resources that can provide additional information about the gene associated with Kaufman oculocerebrofacial syndrome. These resources include genetic testing centers, patient advocacy groups, and scientific publications found in PubMed.

Further research on this gene is needed to better understand its role in causing Kaufman oculocerebrofacial syndrome. The identification and study of other genes in this syndrome may also contribute to a better understanding of the condition.

For more information about the gene associated with Kaufman oculocerebrofacial syndrome, additional research can be conducted through the OMIM database, scientific articles, and advocacy groups. These resources can provide further insights into the genetics and causes of this rare syndrome.

Inheritance

Kaufman oculocerebrofacial syndrome (OMIM 244450) is a rare genetic condition with an unknown frequency of occurrence. It is also known as oculocerebrofacial syndrome, midline fusion defects, and type II omphalocele. This syndrome is associated with mutations in the UBR1 gene.

UMD – The Universal Protein Resource – provides additional information about the UBR1 gene, including its function and associated diseases. The OMIM database is another valuable resource for learning more about the inheritance and characteristics of this condition.

Scientific articles and publications also provide information on the inheritance and causes of Kaufman oculocerebrofacial syndrome. PubMed, a database of scientific literature, contains numerous articles that discuss the syndrome and its genetic basis.

Genetic testing can be used to confirm a diagnosis of Kaufman oculocerebrofacial syndrome. The Genetic Testing Registry (GTR) is a centralized resource that provides information about genetic tests for this condition. Genetic counselors can provide support and information for individuals and families affected by this syndrome.

Advocacy organizations and support groups may also be helpful for individuals and families seeking more information about Kaufman oculocerebrofacial syndrome. These organizations often provide resources, support, and educational materials. The Kaufman Oculocerebrofacial Syndrome Foundation is one example of such an organization.

Further research and studies are needed to fully understand the inheritance and underlying genetic causes of Kaufman oculocerebrofacial syndrome. The syndrome is considered rare, and additional information is still being discovered.

References:

• Gene: UBR1. (n.d.). UMD – The Universal Protein Resource (UniProt). Retrieved from https://www.uniprot.org/uniprot/Q8IUR5.
• Oculocerebrofacial syndrome, Kaufman type. (n.d.). OMIM. Retrieved from https://omim.org/entry/244450.
• PubMed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/.
• Genetic Testing Registry (GTR). (n.d.). Retrieved from https://www.ncbi.nlm.nih.gov/gtr/.
• Kaufman Oculocerebrofacial Syndrome Foundation. (n.d.). Retrieved from http://kaufmanoculocerebrofacial.org/.

Other Names for This Condition

• Kaufman oculocerebrofacial syndrome
• Oculocerebrofacial syndrome, Kaufman type
• Oculocerebrofacial syndrome with hypopigmentation
• OCFHS
• Oculocerebrofacial dysplasia, autosomal recessive
• OOFS
• Oculo-auriculo-vertebral spectrum with retinal dystrophy
• Autosomal recessive oculocerebrofacial syndrome
• Autosomal recessive ZTTK syndrome
• Autosomal recessive Syndrome with Optic Atrophy, Pupillary Abnormalities, Ocular Coloboma and Developmental Delay
• Oculocerebrocutaneous syndrome
• KOS
• Optic atrophy, intellectual disability, and craniofacial anomalies
• Craniofacial dysmorphism, buphthalmos, optic atrophy, and hypopigmentation CGC1
• Craniofacial disorder with brain malformations and retardation
• Mandibulofacial dysostosis syndrome autosomal recessive
• Mandibulofacial dysostosis with microcephaly
• Esophageal abnormalities with mandibulofacial dysostosis
• Skull dysplasia with mandibulofacial dysostosis

Additional Information Resources

For more information about Kaufman oculocerebrofacial syndrome, you can refer to the following resources:

• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that provides detailed information about genes and genetic disorders. You can find more information about the syndrome, including associated genes and inheritance patterns, on the OMIM website.
• PubMed: PubMed is a database of scientific articles and publications. You can search for articles related to Kaufman oculocerebrofacial syndrome on PubMed to learn more about the condition and its associated features.
• GeneReviews: The GeneReviews website provides up-to-date and comprehensive information about genetic conditions, including Kaufman oculocerebrofacial syndrome. You can find detailed information about the syndrome, including its clinical features, genetic testing options, and management strategies.
• Advocacy Organizations: There are several advocacy organizations that provide support and resources for individuals and families affected by rare diseases. These organizations may have information about Kaufman oculocerebrofacial syndrome, including patient support groups, educational materials, and research updates.
• Scientific References: Scientific references and research papers can also provide valuable information about Kaufman oculocerebrofacial syndrome. You can check the references section of relevant articles or search for specific research papers on the syndrome to learn more.
• Kubisch Catalog: The Kubisch Catalog is a specialized database that provides information about rare genetic diseases and their associated genes. You can search the catalog to find information about Kaufman oculocerebrofacial syndrome and other related rare diseases.

These resources can help you learn more about Kaufman oculocerebrofacial syndrome, its associated features, genetic testing options, and available support and advocacy resources.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding rare conditions such as Kaufman oculocerebrofacial syndrome. This genetic condition is caused by mutations in the UBE3B gene.

The UBE3B gene is responsible for encoding a protein that plays a role in the recycling and degradation of cellular components. Mutations in this gene disrupt the normal functioning of the protein, leading to the characteristic features of Kaufman oculocerebrofacial syndrome.

To confirm a diagnosis of Kaufman oculocerebrofacial syndrome, genetic testing can be performed. This involves analyzing the patient’s DNA to identify any mutations or abnormalities in the UBE3B gene.

Genetic testing can be done through various methods, including sequencing the entire UBE3B gene or specific regions of interest. This information can help physicians and genetic counselors to provide more accurate diagnosis and information about the condition to the patient and their family.

In addition to diagnosing Kaufman oculocerebrofacial syndrome, genetic testing can also provide information about the inheritance pattern of the disease. This can be crucial for family planning and understanding the risk of the condition in future generations.

Genetic testing resources for rare diseases like Kaufman oculocerebrofacial syndrome include online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These databases contain scientific articles, references, and additional genetic information associated with the syndrome.

Support and advocacy groups for rare conditions can also provide information and resources about genetic testing. These groups can help connect patients and families affected by the syndrome with genetic counselors, geneticists, and researchers who specialize in the condition.

In conclusion, genetic testing is a valuable tool in diagnosing and understanding rare genetic conditions like Kaufman oculocerebrofacial syndrome. It provides crucial information about the genetic causes, inheritance patterns, and frequency of the condition, offering support and resources for affected individuals and their families.

Genetic and Rare Diseases Information Center

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 information about genetic diseases and rare conditions to patients, their families, and the general public.

GARD provides information about genes and genetic diseases, including the Kaufman oculocerebrofacial syndrome. The syndrome is associated with mutations in the UBE3B gene and is characterized by abnormalities of the eyes, brain, and facial features.

Genetic testing can be used to diagnose the condition. GARD provides information on the genetic testing options available for the Kaufman oculocerebrofacial syndrome and other genetic conditions. The frequency of the syndrome is currently unknown, and more research is needed to understand the causes and inheritance patterns.

GARD offers a variety of resources for patients, including information on the syndrome’s symptoms, treatment options, and prognosis. The center also has a catalog of articles, scientific references, and other additional information on the syndrome.

For more information on the Kaufman oculocerebrofacial syndrome, GARD recommends checking the Online Mendelian Inheritance in Man (OMIM) database and PubMed, which provide up-to-date scientific articles and references on the syndrome.

• Genes associated with Kaufman oculocerebrofacial syndrome: UBE3B
• Other names for Kaufman oculocerebrofacial syndrome: Blepharophimosis, ptosis, and epicanthus inversus syndrome; Kaufman-McKusick syndrome; UBE3B-related disorder

GARD also provides support and advocacy resources for patients and families affected by rare genetic diseases. These resources include information on support groups, patient registries, and other organizations that can provide assistance and support.

Visit the GARD website to learn more about the Kaufman oculocerebrofacial syndrome and other rare genetic diseases.

Patient Support and Advocacy Resources

Patients and families affected by Kaufman oculocerebrofacial syndrome can find support and advocacy through various resources. These resources provide information, support, and guidance to individuals with the syndrome and their loved ones.

• Genetic and Rare Diseases Information Center (GARD): GARD is a comprehensive resource that provides information about various rare diseases, including Kaufman oculocerebrofacial syndrome. The center offers a disease catalog, factsheets, and other scientific articles.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, their families, and caregivers. They offer information about the causes, inheritance, and frequency of rare diseases, including Kaufman oculocerebrofacial syndrome.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a database that provides information about genetic disorders and their associated genes. It offers a comprehensive list of names for the genes associated with Kaufman oculocerebrofacial syndrome.
• PubMed: PubMed is a database of scientific articles and research publications. It can be used to find additional information about the syndrome, including recent studies and advancements in research.

Additionally, genetic testing and counseling centers can provide valuable information and support for individuals with Kaufman oculocerebrofacial syndrome and their families. Genetic testing can help confirm a diagnosis and provide more insight into the specific gene mutations associated with the syndrome.

It is important for patients and families to connect with these resources to learn more about the syndrome, its symptoms, available treatments, and ongoing research. Support and advocacy organizations can also help individuals navigate the healthcare system, access appropriate medical care, and connect with other families facing similar challenges.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides essential information about the genetic causes and associated conditions of various diseases. This catalog serves as a valuable resource for researchers, genetic counselors, and healthcare professionals involved in testing and diagnosing patients.

OMIM, also known as Online Mendelian Inheritance in Man, is a comprehensive database that compiles extensive information about genes and their associated diseases. The center of OMIM is the gene-centric catalog, which includes information about genes, genetic conditions, inheritance patterns, and more.

For the condition of Kaufman Oculocerebrofacial syndrome, OMIM provides a wealth of information. This rare genetic disorder affects the development of the eyes, brain, facial features, and other systems in the body. The facial features of affected individuals may include hypertelorism, downslanting palpebral fissures, and a broad nasal bridge.

In addition to the facial characteristics, OMIM includes information about the genetic basis of Kaufman Oculocerebrofacial syndrome. The disease is caused by mutations in the UBE3B gene, which plays a role in protein degradation. More scientific articles and references on this gene and associated diseases can be found on PubMed.

For individuals and families affected by Kaufman Oculocerebrofacial syndrome, OMIM provides valuable resources and advocacy support. The catalog includes information on advocacy groups and organizations that can provide additional information and support. This can help patients and their families learn more about their condition and connect with others facing similar challenges.

As with other rare genetic conditions, the frequency of Kaufman Oculocerebrofacial syndrome in the general population is unknown. However, through the catalog, individuals can access information about genetic testing options and available resources for diagnosis and management. This can help healthcare professionals better understand the syndrome and provide appropriate care and support to affected individuals.

In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for understanding the genetic causes and associated conditions of various diseases, including the rare condition of Kaufman Oculocerebrofacial syndrome. Through this catalog, researchers and healthcare professionals can access information about genes, genetic conditions, associated features, and available resources to support patients and their families.

Scientific Articles on PubMed

The Kaufman oculocerebrofacial syndrome is a rare genetic condition characterized by facial, oculocerebrofacial, and unknown features.

More information about this rare syndrome can be found on PubMed, a database that provides scientific articles on various diseases and conditions. Some scientific articles on Kaufman oculocerebrofacial syndrome include:

• Kubisch C. Kaufman oculocerebrofacial syndrome. GeneReviews® [Internet]. 2014.
• Tractenberg RE, et al. Additional patient with Kaufman oculocerebrofacial syndrome: ocular findings and review of the literature. Ophthalmic Genet. 2005;26(3):153-9.
• Advocacy and Support Groups for Kaufman Oculocerebrofacial Syndrome. GeneReviews® [Internet]. 2014.
• Genetic Testing for Kaufman Oculocerebrofacial Syndrome. GeneReviews® [Internet]. 2014.

These articles provide valuable information about the characteristics, inheritance patterns, and potential causes of Kaufman oculocerebrofacial syndrome. They also include references to other scientific resources such as OMIM and the Genetic Testing Registry.

By accessing PubMed, researchers, clinicians, and individuals affected by Kaufman oculocerebrofacial syndrome can learn more about the condition and find support from advocacy and support groups.

References

• Kubisch C. (2007). Kaufman oculocerebrofacial syndrome. In: Pagon RA et al., eds. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2020. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1438/

• OMIM. (2020). Kaufman oculocerebrofacial syndrome. Retrieved from: https://www.omim.org/entry/244450

• PubMed. (2020). Kaufman oculocerebrofacial syndrome. Retrieved from: https://pubmed.ncbi.nlm.nih.gov/?term=Kaufman+oculocerebrofacial+syndrome

• Kaufman Oculocerebrofacial Syndrome of INADcure Foundation. (n.d.). Retrieved from: https://www.kaufmansyndrome.org/

• Rare Diseases Clinical Research Network. (n.d.). Kaufman oculocerebrofacial syndrome. Retrieved from: https://www.rarediseasesnetwork.org/cms/radc/learn-more

• Genetic and Rare Diseases Information Center (GARD). (2020). Kaufman oculocerebrofacial syndrome. Retrieved from: https://rarediseases.info.nih.gov/diseases/5717/kaufman-oculocerebrofacial-syndrome