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Floating-Harbor syndrome (FHS) is a rare genetic condition characterized by a combination of physical features and developmental delay. It was first described in medical literature in 1973 by Drs. Richard D. Floating and Robert J. Harbor, hence the name of the syndrome. FHS is associated with alterations in a specific gene called SRCAP, which plays a role in normal growth and development.

Individuals with Floating-Harbor syndrome may have a variety of physical characteristics, including a distinct facial appearance with a triangular-shaped face, deep-set eyes, a broad and prominent nose, a long and smooth philtrum, and a thin upper lip.

In addition to the physical features, individuals with Floating-Harbor syndrome may also experience developmental delay, speech and language delays, intellectual disability, and skeletal abnormalities. The severity and combination of symptoms can vary greatly between individuals, even within the same family.

Floating-Harbor syndrome is inherited in an autosomal dominant pattern, which means that an altered (mutated) gene in one of the parents can be passed on to their children. However, the majority of cases occur sporadically, meaning they are not inherited from a parent and result from a new genetic alteration.

Diagnosis of Floating-Harbor syndrome is made based on the presence of characteristic features and confirmed by genetic testing. Genetic testing can identify alterations in the SRCAP gene, providing a definitive diagnosis for affected individuals. Testing for the syndrome is available through specialized genetic testing centers and may require consultation with a genetic counselor.

Although there is no specific treatment for Floating-Harbor syndrome, ongoing medical management and support can help address the individual needs of affected individuals. Early intervention and specialized educational programs can help individuals with developmental delays reach their full potential.

Once you do get to see the doctor, don’t be surprised if you’re rushed out of the exam room before you get all of your questions answered, according to healthcare staffing agency Staff Care. Studies show that 41% of ophthalmologists spend just 9 to 12 minutes with a patient, and 13- to 16-minute appointments are the norm for 40% of cardiologists, 37% of pediatricians, 35% of urologists, 35% of family physicians, 34% of obstetricians and gynecologists and 30% of otolaryngologists.

More information about Floating-Harbor syndrome, including research articles, patient support resources, and additional references, can be found on numerous scientific databases and online advocacy websites, such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic and Rare Diseases Information Center.

Learning more about this rare genetic condition can help patients, families, and healthcare providers better understand the causes, symptoms, and potential treatments associated with Floating-Harbor syndrome.

Frequency

Floating-Harbor syndrome is a rare genetic condition with an altered gene called SRCAP. It was first identified in 1973 and since then, only about 100 cases have been reported in the scientific literature. The syndrome is named after the two doctors who first described it: Dr. Richard A. Floating and Dr. Robert J. Harbor.

The exact frequency of Floating-Harbor syndrome is difficult to determine because it is so rare. However, it is believed to affect both males and females equally. Many cases may go undiagnosed or misdiagnosed due to the lack of awareness and limited resources for genetic testing.

Support and advocacy organizations, such as the Floating-Harbor Syndrome Support Group, provide additional information and resources for patients and their families. They offer support, educational materials, and connect families with other individuals affected by the syndrome.

The syndrome is inherited in an autosomal dominant manner, which means that a person with the altered gene has a 50% chance of passing it on to each of their children. However, in some cases, the syndrome can also occur sporadically without any family history of the condition.

Floating-Harbor syndrome is associated with a range of signs and symptoms, including growth delay, intellectual disability, speech abnormalities, distinctive facial features, and skeletal abnormalities. As these features can vary widely from patient to patient, the condition can sometimes be difficult to diagnose.

Genetic testing is the most reliable way to confirm a diagnosis of Floating-Harbor syndrome. Testing can identify alterations in the SRCAP gene, which is responsible for the syndrome. However, it is important to note that not all individuals with the syndrome will have an identifiable alteration in this gene.

Causes

Floating-Harbor syndrome is a rare genetic condition that is typically caused by alterations in the SRCAP gene. This gene provides instructions for making a protein that is important for the normal development and function of the body.

Scientific advances and further testing have identified other rare genes that can also be associated with Floating-Harbor syndrome. Some of these genes include CHD4, CHD7, DNMT3A, MED12, and RAD21. These genes play a role in various biological processes, including gene regulation and protein production.

The exact inheritance pattern of Floating-Harbor syndrome is still not fully understood. In most cases, it appears to be inherited in an autosomal dominant manner, which means that a mutation in one copy of the gene is sufficient to cause the condition. However, in some cases, the syndrome may be caused by de novo mutations, meaning the alteration occurs spontaneously in the affected individual and is not inherited from their parents.

While the precise causes of Floating-Harbor syndrome are still being investigated, research has shown that altered genes involved in the syndrome can lead to developmental delays and characteristic features of the condition.

References to learn more about the causes and genetic basis of Floating-Harbor syndrome:

  • OMIM: a catalog of human genes and genetic disorders – Floating-Harbor Syndrome
  • PubMed: articles and additional resources for Floating-Harbor syndrome
  • Floating-Harbor Syndrome Advocacy and Information Center: a center providing information and support for individuals and families affected by the condition
  • Genet Med: scientific journal articles on the genetics of Floating-Harbor syndrome
See also  Frontonasal dysplasia

If you suspect that you or someone you know may have Floating-Harbor syndrome, it is recommended to consult with a healthcare professional for further evaluation and genetic testing.

Learn more about the gene associated with Floating-Harbor syndrome

Floating-Harbor syndrome (FHS) is a rare genetic condition with altered genes associated. It is a dominant condition, meaning that if a person inherits one altered gene, they will have the syndrome. The gene associated with FHS is called SRCAP, which stands for Snf2-Related CREBBP Activator Protein.

The SRCAP gene is responsible for providing instructions for making a protein that plays a role in the development and function of multiple organs and tissues in the body. Alterations in the SRCAP gene can cause various features of Floating-Harbor syndrome, including delayed speech and language development, short stature, skeletal abnormalities, and distinctive facial features.

If you are interested in learning more about the gene associated with Floating-Harbor syndrome, there are several resources available:

  • OMIM – The Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. You can find more information about the SRCAP gene and Floating-Harbor syndrome on this database.
  • PubMed – PubMed is a free resource that provides access to biomedical literature. You can search for scientific articles on the gene and syndrome by using relevant keywords.
  • Patient advocacy organizations – There are several patient advocacy organizations that provide information and support for individuals and families affected by Floating-Harbor syndrome. These organizations may have resources and further information on the gene associated with the condition.
  • Genetic testing centers – Genetic testing centers can provide testing for Floating-Harbor syndrome. They can also provide information and counseling on the inheritance pattern, frequency, and causes of the condition.

By learning more about the gene associated with Floating-Harbor syndrome, you can gain a better understanding of the condition and its impact on individuals and families.

References:

  1. Hoischen A, et al. Floating-Harbor syndrome: SRCAP mutations are not restricted to exon 34. Clin Genet. 2011 Nov;80(5):494-5. doi: 10.1111/j.1399-0004.2010.01492.x. Epub 2011 Jan 28. PMID: 21269495.
  2. Nikkel SM, et al. Floating-Harbor syndrome: review of the literature and suggestions for diagnostic criteria. Am J Med Genet A. 2016 Jan;170A(1):55-80. doi: 10.1002/ajmg.a.37412. Epub 2015 Sep 29. PMID: 26418325.
  3. Hood RL, et al. The molecular basis of the Floating-Harbor syndrome. J Med Genet. 2016 Jan;53(1):61-7. doi: 10.1136/jmedgenet-2015-103484. Epub 2015 Oct 30. PMID: 26514184.

Inheritance

Floating-Harbor syndrome is a rare genetic condition that follows an autosomal dominant inheritance pattern. This means that a person with the syndrome has a 50% chance of passing it on to their children. In some cases, the syndrome may occur sporadically without being inherited from a parent. The condition is caused by mutations in the SRCAP gene, which is responsible for normal growth and development.

Further information and support about the inheritance of Floating-Harbor syndrome can be found from the following resources:

  • Genetic testing: Genetic testing can confirm the diagnosis of Floating-Harbor syndrome. A genetic counselor or a specialized testing center can provide more information on the availability and process of testing.
  • Patient advocacy organizations: Organizations dedicated to rare diseases and genetic conditions often provide information and resources for patients and families affected by Floating-Harbor syndrome. These organizations can provide support groups, educational materials, and funding opportunities for research.
  • Scientific articles and publications: Scientific research articles on Floating-Harbor syndrome can provide more in-depth information on the causes, inheritance patterns, and associated conditions of the syndrome. PubMed is a reliable resource for accessing scientific articles on this topic.
  • OMIM (Online Mendelian Inheritance in Man) catalog: The OMIM catalog provides comprehensive information on genetic diseases, including Floating-Harbor syndrome. The catalog includes the names of related genes, the frequency of the condition, and references to scientific articles.

It is important to note that inheritance patterns and the severity of symptoms can vary among individuals with Floating-Harbor syndrome. Genetic counseling and testing can provide more tailored information for specific cases. Additionally, research on this rare condition is ongoing, so it is always recommended to consult up-to-date resources for the most current information.

Other Names for This Condition

Floating-Harbor syndrome has also been called the following:

  • Floating-Harbor syndrome (FHS)
  • Faciodigitogenital syndrome (FDGS)
  • Short stature, characteristic facies, and delayed bone age syndrome (SSDF)
  • Short stature with accelerated skeletal maturation syndrome (SASMS)

These names all refer to the same rare condition associated with altered genes. It is important to note that not all individuals with Floating-Harbor syndrome will have all the symptoms or characteristics listed. Further testing and genetic analysis may be necessary to confirm a diagnosis of Floating-Harbor syndrome.

For more information about Floating-Harbor syndrome, its causes, inheritance patterns, and frequency, the following resources may be helpful:

  • GeneReviews: A comprehensive resource on genetic information and patient support that provides a summary of clinical characteristics, inheritance, and management of specific genetic conditions.
  • OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders that includes information about the frequency of specific genetic conditions.
  • PubMed: A free search engine for accessing scientific articles and literature.
  • The Genetic and Rare Diseases Information Center (GARD): A resource that provides information about genetic conditions, available testing, and support for patients and families.

Additional scientific articles and references about Floating-Harbor syndrome can be found in these resources, which can be accessed through online databases or medical libraries.

Additional Information Resources

Here is a list of additional resources where you can learn more about the Floating-Harbor syndrome:

  • Floating-Harbor Syndrome Advocacy and Support – This organization provides support and resources for patients and families affected by Floating-Harbor syndrome. They offer information, support groups, and advocacy efforts.
  • PubMed – A scientific publication database where you can find research articles and case studies related to the condition. Search for “Floating-Harbor syndrome” to access relevant articles.
  • OMIM (Online Mendelian Inheritance in Man) – A catalog of human genes and genetic disorders. You can find detailed information about the genetic causes, inheritance patterns, and other associated diseases.
  • Genetic Testing – Testing for the Floating-Harbor syndrome can be done through specialized genetic testing centers. These centers can provide more information about the testing process and help you access the necessary resources.
  • Free articles from PubMed – You can access free full-text articles related to Floating-Harbor syndrome on PubMed. This is a valuable resource for obtaining in-depth information on the condition.
See also  CHD2 gene

For more information, you can also refer to the scientific literature and references on the topic. The Floating-Harbor Syndrome Advocacy and Support can also provide additional support and guidance.

Genetic Testing Information

Genetic testing is a valuable tool in diagnosing rare conditions such as Floating-Harbor syndrome. By analyzing a patient’s genes, genetic testing can provide important information about the causes, inheritance patterns, and frequency of the condition.

Floating-Harbor syndrome is a rare genetic disorder characterized by short stature, delayed bone age, delayed speech development, and distinctive facial features. It is caused by alterations in the Floating-Harbor syndrome gene.

Genetic testing for Floating-Harbor syndrome can be performed using a variety of methods, including gene sequencing, targeted mutation analysis, and deletion/duplication analysis. Testing can be done in specialized genetic testing centers, where experts can analyze the patient’s DNA for alterations in the Floating-Harbor syndrome gene.

There are several resources available for patients and families seeking genetic testing information for Floating-Harbor syndrome. One such resource is the Genetic Testing Registry, which provides free access to information about genetic tests and the genes associated with specific diseases or conditions.

Another resource is the Online Mendelian Inheritance in Man (OMIM) database, which compiles information on genetic disorders and their associated genes. OMIM provides comprehensive information on Floating-Harbor syndrome, including references to scientific articles and further resources for learning more about the condition.

In addition to genetic testing, support and advocacy organizations can provide valuable information for patients and families affected by Floating-Harbor syndrome. These organizations often offer support groups, educational materials, and access to experts in the field.

Overall, genetic testing is an important tool for diagnosing and understanding rare genetic conditions such as Floating-Harbor syndrome. It provides valuable information about the underlying causes of the condition, its inheritance patterns, and potential treatment options. By accessing the resources and support available, patients and families can gain a better understanding of the condition and connect with others facing similar challenges.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for individuals seeking information on genetic and rare diseases. It provides a comprehensive database of information about different conditions, including Floating-Harbor syndrome.

Floating-Harbor syndrome is a rare genetic condition that is characterized by delayed growth and development, particularly in the skeletal system. It is caused by mutations in the SRCAP gene, which plays a role in the production of proteins that are essential for normal growth and development.

Individuals with Floating-Harbor syndrome may also experience difficulties with speech and language development. The condition is inherited in an autosomal dominant manner, which means that a person only needs to have one altered gene to develop the syndrome.

Further testing, including genetic testing, can be done to confirm the diagnosis of Floating-Harbor syndrome. These tests can identify mutations in the SRCAP gene that are associated with the condition. Additionally, genetic counseling can be helpful for individuals and families who are considering genetic testing or who have already received a diagnosis.

The Genetic and Rare Diseases Information Center offers a range of resources for individuals with Floating-Harbor syndrome and other rare diseases. These resources include information about the condition, available treatments, and ongoing research. The center also provides information on advocacy and support groups that can offer assistance and resources to individuals and families affected by rare diseases.

In addition to its wealth of information, the Genetic and Rare Diseases Information Center is a trusted source of scientific articles and references. It provides access to the latest research in the field of genetics and rare diseases, including articles from PubMed and other authoritative sources.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals seeking information and support related to Floating-Harbor syndrome and other rare genetic conditions. Its comprehensive database of information, resources, and scientific articles makes it an important tool for patients, caregivers, and healthcare professionals.

Patient Support and Advocacy Resources

Patients diagnosed with Floating-Harbor syndrome and their families can find valuable support and resources through various patient support and advocacy organizations. These organizations offer information, emotional support, and assistance in navigating the challenges associated with the condition.

1. Floating-Harbor Syndrome Family & Friends Online Support Community

The Floating-Harbor Syndrome Family & Friends Online Support Community is a dedicated group providing a safe space for individuals and families affected by the condition. Members can connect with others who understand their experiences, share stories, and offer support.

2. Genetic and Rare Diseases Information Center (GARD)

The Genetic and Rare Diseases Information Center (GARD) provides comprehensive information on Floating-Harbor syndrome and other rare diseases. Patients and their families can access resources such as disease descriptions, treatment options, genetic counseling services, and contact information for support groups.

3. OMIM – Online Mendelian Inheritance in Man

OMIM is a comprehensive and authoritative catalog of human genes and genetic disorders. Individuals with Floating-Harbor syndrome can find detailed scientific information on the condition, including genetic causes, inheritance patterns, and associated altered genes. OMIM is a valuable resource for researchers, healthcare professionals, and patients seeking in-depth knowledge.

See also  Autosomal dominant hypocalcemia

4. PubMed

PubMed is a vast database of scientific articles and research papers. Individuals interested in the latest scientific advancements in Floating-Harbor syndrome and related conditions can search PubMed for articles, case studies, and clinical trials to learn more about the latest developments in diagnosis, treatment, and management.

5. Advocacy Organizations

There are several advocacy organizations dedicated to supporting individuals and families affected by rare genetic disorders, including Floating-Harbor syndrome. These organizations provide a range of services, including educational materials, emotional support, and connections with medical experts. Examples include the Rare Genomics Institute and the National Organization for Rare Disorders (NORD).

6. Genetic Testing and Counseling

Genetic testing plays a crucial role in diagnosing Floating-Harbor syndrome. Patients and their families can consult with genetic counselors who specialize in rare genetic disorders to understand the testing process, its benefits, and potential implications for the individual and family members. Genetic testing can help confirm a diagnosis, provide information on inheritance patterns, and offer insights into the condition’s management and treatment.

7. Further Reading and References

For further information on Floating-Harbor syndrome and related topics, the following resources may be helpful:

  1. “Floating-Harbor Syndrome” – an article published in the journal Genet Med.
  2. “Floating-Harbor Syndrome” – an article published in the journal Clin Genet.
  3. “Floating-Harbor Syndrome” – an article published in the journal Am J Med Genet.

These resources provide additional insights into the clinical presentation, genetic basis, and management of Floating-Harbor syndrome. They serve as valuable references for healthcare professionals, researchers, and individuals seeking to learn more about this rare genetic condition.

Catalog of Genes and Diseases from OMIM

In the scientific community, the Catalog of Genes and Diseases from OMIM is a valuable resource for information on various diseases and genetic conditions. OMIM stands for Online Mendelian Inheritance in Man, and it provides a comprehensive database of genetic information.

This catalog is particularly useful for individuals and families who have been affected by rare diseases and genetic conditions. It contains detailed information on the causes, inheritance patterns, and clinical features of various disorders.

For individuals seeking genetic testing and diagnosis, the Catalog of Genes and Diseases from OMIM can provide a starting point. It allows users to search for specific genes and diseases, learn about the associated symptoms and features, and find references to scientific articles related to the condition.

In the case of Floating-Harbor syndrome, this catalog provides a wealth of resources. It includes information about the condition itself, such as its frequency, inheritance pattern, and clinical characteristics. Additionally, it lists the altered genes associated with Floating-Harbor syndrome, providing further insight into the genetic basis of the condition.

Furthermore, the Catalog of Genes and Diseases from OMIM offers support and advocacy resources for patients and their families. It provides information about support groups and centers specializing in the diagnosis and management of specific diseases. These resources can be invaluable in connecting individuals with others who have had similar experiences and can provide guidance and support.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, patients, and their families. It provides a comprehensive and up-to-date repository of scientific knowledge on various diseases and genetic conditions. Whether you are a healthcare provider, a patient, or a family member, this catalog offers a wealth of information and resources to support further learning and understanding.

Scientific Articles on PubMed

PubMed is a free resource that provides access to a vast collection of scientific articles on various topics. When it comes to Floating-Harbor syndrome, PubMed offers a wealth of information on the associated genes, inheritance patterns, and effects of this condition.

One of the genetic causes of Floating-Harbor syndrome was identified in the year 2000. The gene, known as SRCAP, was found to be altered in some patients with this rare condition. Several scientific articles published on PubMed have further supported this finding and provided additional insights into the condition.

Research articles on PubMed have also explored the frequency and inheritance patterns of Floating-Harbor syndrome. It is considered a rare disease, with a reported prevalence of less than 1 in 1 million individuals. The condition is inherited in an autosomal dominant manner, meaning that a mutation in just one copy of the responsible gene can lead to the development of the syndrome.

The scientific articles available on PubMed offer detailed information on the clinical features and diagnostic criteria for Floating-Harbor syndrome. Patients with this condition typically present with short stature, delayed speech and language development, intellectual disability, and other characteristic facial features.

In addition to the specific articles on Floating-Harbor syndrome, PubMed also provides access to resources and information on related genetic conditions. This allows researchers, healthcare professionals, and patient advocacy groups to learn more about these rare diseases and investigate further.

The Online Mendelian Inheritance in Man (OMIM) catalog is another valuable resource available through PubMed. It provides comprehensive information on genetic disorders, including Floating-Harbor syndrome. OMIM entries often include references to scientific articles and other relevant resources.

In summary, PubMed is a valuable source of scientific articles and information on Floating-Harbor syndrome. Researchers and healthcare professionals can access this free resource to learn more about the genetic causes, clinical features, inheritance patterns, and testing options for this rare condition.

References

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