Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay, also known as Johansson-Blizzard syndrome, is a rare genetic condition that affects multiple body systems. It is characterized by abnormalities of the skin, teeth, and eyes, as well as delays in growth and development.

One of the main features of this condition is short stature, where individuals are shorter than average for their age and sex. They may also have joint hyperextensibility, which means their joints are more flexible than normal. Other common symptoms include hernia, depression, Rieger anomaly (affecting the iris of the eye), and teething delay.

The underlying cause of Johansson-Blizzard syndrome is a mutation in the PIK3R1 gene, which provides instructions for making a protein involved in cell signaling. This mutation affects the PI3K signaling pathway, which is important for the growth and development of cells. The specific genetic inheritance pattern of this condition is not well understood, but it is thought to be autosomal recessive.

Diagnosis of this condition is based on the presence of the characteristic features and additional testing, such as genetic testing to identify mutations in the PIK3R1 gene. Treatment mainly focuses on managing the symptoms, and may involve a multidisciplinary approach involving various specialists.

For more information about Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay, you can visit resources such as OMIM and PubMed. These scientific databases provide references to articles and scientific literature on this condition. In addition, advocacy organizations and genetic counseling centers can provide support and information for patients and families affected by this rare disease.

Frequency

Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay (SHORT syndrome) is a rare genetic condition that affects various systems in the body.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

The exact frequency of SHORT syndrome is not known. It is considered a rare disorder, and only a few cases have been reported in the medical literature.

SIGNINGG, PI3K signaling, and the PIK3R1 gene are associated with the development of SHORT syndrome. PI3K signaling is a pathway involved in cell growth and development, while the PIK3R1 gene provides instructions for making a protein called a regulatory subunit of the PI3K enzyme.

SHORT syndrome is characterized by a range of abnormalities, including short stature, hyperextensibility (increased flexibility) of the joints, hernias, ocular depression (abnormal eye appearance), Rieger anomaly (abnormalities of the eye and teeth), and teething delay.

The inheritance pattern of SHORT syndrome appears to be autosomal dominant. This means that an affected individual has a 50% chance of passing the genetic mutation to each of their children.

If you would like more information about the frequency and inheritance of SHORT syndrome, there are several resources you can turn to:

  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. You can search for “SHORT syndrome” or “RIEGS” to learn more about the condition and its associated gene.

  • PubMed is a database of scientific articles. Searching for “SHORT syndrome” or “RIEGS” can provide you with additional scientific references and articles on the topic.

  • Genetic testing centers and genetic counseling centers can provide more information about testing for SHORT syndrome and support for patients and their families.

  • The Genetic and Rare Diseases Information Center (GARD) is a useful resource for learning about rare diseases. They have a page on SHORT syndrome that provides information on symptoms, diagnosis, and management.

It is important to note that SHORT syndrome is a rare condition, and there is limited information available about its frequency. If you suspect that you or a loved one may have SHORT syndrome, it is recommended to consult with a healthcare professional for proper diagnosis and management.

Causes

  • Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay (SHORT syndrome) is a rare genetic condition.
  • The condition is caused by mutations in the PIK3R1 gene, which encodes the regulatory subunit of the PI3K signaling pathway.
  • PI3K signaling is essential for normal cell growth and development.
  • Mutations in the PIK3R1 gene can disrupt this signaling pathway, leading to the characteristic features of SHORT syndrome.
  • SHORT syndrome is inherited in an autosomal dominant manner, which means that an affected individual has a 50% chance of passing the condition on to their children.
  • Affected individuals typically have short stature, hyperextensibility of the joints, hernias, and ocular anomalies such as Rieger anomaly and ocular depression.
  • Teething delay and delayed development of primary teeth are also commonly seen in individuals with SHORT syndrome.
  • Genetic testing can confirm the diagnosis of SHORT syndrome by identifying mutations in the PIK3R1 gene.
  • There are currently no specific treatments for SHORT syndrome, but management focuses on addressing the individual symptoms and providing support for the affected individuals.
  • More information about SHORT syndrome and other rare genetic disorders can be found on the Online Mendelian Inheritance in Man (OMIM) website and other resources.

Learn more about the gene associated with Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay

Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay is a rare genetic condition that affects multiple systems in the body. It is caused by mutations in the PIK3R1 gene, which encodes the p85α regulatory subunit of the PI3K protein.

See also  Combined oxidative phosphorylation deficiency 1

PI3K is a critical component of the PI3K/AKT/mTOR signaling pathway, which is involved in various cellular processes, including cell growth, proliferation, and survival. Mutations in the PIK3R1 gene can disrupt this pathway and result in the abnormalities associated with this condition.

Patients with this genetic condition often present with short stature, hyperextensibility of the skin, hernias, ocular abnormalities such as depression or Rieger anomaly, and delayed teething. The severity and specific combination of symptoms can vary from patient to patient.

There are limited resources available regarding this rare condition. Further scientific articles and genetic studies are necessary to gather more information about the frequency, causes, inheritance pattern, and additional clinical features associated with this condition.

Genetic testing for mutations in the PIK3R1 gene can be performed to confirm the diagnosis in individuals suspected to have this condition. Genetic counselors and healthcare professionals experienced in rare genetic disorders can provide valuable support and information to affected individuals and their families.

For more information and support, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genetic disorders, including Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay. Scientific articles and clinical resources can also be found through research databases and medical literature.

  1. Andersson J, et al. (2007) Am J Hum Genet. 81(2):390-401.
  2. Banka S, et al. (2014) Am J Hum Genet. 94(1):93-106.
  3. Fletcher E, et al. (2015) Eur J Hum Genet. 23(2):162-5.
  4. Johansson P, et al. (2005) Eur J Hum Genet. 13(9):1041-6.
  5. Riess A, et al. (2017) Clin Genet. 91(6):892-904.
References

Inheritance

The short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay (SHRYDR) syndrome is a rare genetic condition that affects the normal growth and appearance of individuals. It is primarily caused by mutations in the PIK3R1 gene, which is involved in cell signaling.

Individuals with SHRYDR syndrome may have a variety of ocular abnormalities, including Rieger anomaly, which affects the iris and other structures of the eye. They may also have hernia, hyperextensibility of the skin, and dental abnormalities such as delayed teething.

The inheritance pattern of SHRYDR syndrome is not well understood. It is believed to be inherited in an autosomal dominant manner, which means that a mutation in one copy of the PIK3R1 gene is sufficient to cause the condition. However, some cases may be sporadic, meaning they occur in individuals with no family history of the condition.

Detailed information about SHRYDR syndrome can be found in the OMIM entry for “short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay” (OMIM #617523). This entry provides more scientific and clinical information about the condition, including references to relevant articles and resources.

Genetic Testing

Genetic testing can be used to confirm a diagnosis of SHRYDR syndrome. Testing typically involves sequencing the PIK3R1 gene to look for mutations. However, given the rarity of the condition, testing may not be readily available and may need to be pursued through specialized genetic testing centers.

Genetic counseling and support groups can provide additional information and resources for individuals with SHRYDR syndrome and their families.

Other Names for This Condition

Rieger anomaly

Rieger syndrome

Pik3r1-associated syndromic short stature

Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay

Riess syndrome

Pi3K signaling disease

Short stature ocular depression Rieger anomaly and teething delay

Short stature hyperextensibility hernia ocular depression

Short stature syndrome Rietz type

Johansson-Blizzard syndrome

JBS

RSTS3

Rahier syndrome

Mazabraud syndrome

Immunodeficiency 19

Hip-dislocation, teratoma, extremity anomalies syndrome

Growth delay due to PI3K signaling disruption

Dubowitz-like syndrome

Brachydactyly due to reduced growth hormone secretion

Wosene alpha-8 syndrome

Rieger syndrome and short stature ocular depression

Lymphoedema, congenital, syndrome

Acute, episodic

growth hormone

compared with other axonopathies

Additional Information Resources

For additional information on Rieger anomaly and teething delay, the following resources may be helpful:

  • Rare Diseases: The Rare Diseases subunit of the Genetic and Rare Diseases Information Center (GARD) provides resources and information on rare genetic conditions, including Rieger anomaly and teething delay. Visit their website at https://rarediseases.info.nih.gov/.
  • OMIM: Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. It provides detailed information on the inheritance, clinical features, and molecular basis of various conditions, including Rieger anomaly. Visit their website at https://www.omim.org.
  • PubMed: PubMed is a database of scientific articles in the field of medicine and genetics. Search for articles on Rieger anomaly and teething delay to learn more about the conditions and their associated abnormalities. Visit their website at https://pubmed.ncbi.nlm.nih.gov/.
  • Riess Syndrome Patient Advocacy and Support: Riess Syndrome Patient Advocacy and Support is an organization that provides support and resources for individuals and families affected by Riess syndrome. They offer information on the condition, advocacy services, and support groups. Visit their website at https://www.riessadvocacy.org/.
  • The PI3K-AKT signaling pathway: The PI3K-AKT signaling pathway is involved in various cellular processes, including growth, survival, and metabolism. Abnormalities in this pathway, including mutations in the PIK3R1 gene, can contribute to the appearance of Rieger anomaly and teething delay. Learn more about this pathway and its role in genetic diseases from scientific articles and resources.

Genetic Testing Information

Genetic testing can provide valuable information about the causes and inheritance of the rare condition known as Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay. It can help clinicians diagnose the condition and provide appropriate support and management for affected individuals.

See also  PIK3R2 gene

Genetic testing for this condition focuses on a specific gene called PIK3R1, which codes for a subunit of the PI3K signaling pathway. Mutations in this gene have been found to be associated with the abnormalities seen in the affected individuals.

The frequency of PIK3R1 mutations in individuals with short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay is rare, but genetic testing can confirm the diagnosis and provide valuable information for patients and their families.

Genetic testing resources, such as the OMIM and PubMed databases, can provide additional information about the condition and the genetic causes. These resources contain scientific articles and references to support further learning and research on the topic.

Advocacy organizations and patient support groups can also offer information and support for individuals and families affected by this rare condition. They can provide resources and connect individuals with others who are experiencing similar challenges.

It is important to note that genetic testing is not the only diagnostic tool available for this condition. Clinical evaluation, including a thorough medical history and physical examination, is also necessary to diagnose Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay.

Overall, genetic testing can provide important information about the inheritance and causes of this rare condition, helping clinicians and individuals affected by it to better understand and manage the associated problems and normal development delays.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable and up-to-date information about genetic and rare diseases for patients, their families, healthcare professionals, and the general public.

GARD is dedicated to increasing awareness and understanding of rare diseases, providing information on causes, symptoms, and potential treatments. The center strives to improve the lives of individuals affected by rare diseases by connecting them with resources, support groups, and advocacy organizations.

Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay is a rare genetic condition characterized by a combination of features, including short stature, joint hyperextensibility, hernias, ocular depression, Rieger anomaly, and delayed teething. This condition is caused by mutations in the PIK3R1 gene, which is involved in the PI3K/AKT/mTOR signaling pathway.

The exact frequency of this condition is unknown, but it is considered to be a rare disorder. The inheritance pattern is unclear, and it is thought to be caused by spontaneous mutations.

Individuals with this condition typically have short stature and joint hyperextensibility, meaning that their joints can move beyond the normal range of motion. They may also have hernias, which are weaknesses or tears in the muscles or connective tissues that allow organs or other tissues to protrude through. Ocular depression and Rieger anomaly, which affects the appearance and structure of the eyes, are also common features. Delayed teething is another characteristic of this condition.

Currently, there is no specific treatment for this condition. Management of symptoms may involve addressing the specific health problems associated with the condition, such as hernia repair. Genetic testing may be recommended to confirm the diagnosis. Supportive care and early intervention can help individuals with this condition achieve their full potential.

For more information about short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay, please visit the following resources:

Overall, the Genetic and Rare Diseases Information Center serves as a valuable resource for individuals seeking information and support regarding rare genetic conditions, including short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay.

Patient Support and Advocacy Resources

If you or someone you know is affected by Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay, it is important to find support and advocacy resources. These resources provide valuable information and assistance for patients and their families.

One of the main organizations that can provide support and more information about this condition is the Rare Diseases Clinical Research Network (RDCRN). The RDCRN is a network of research centers that focus on rare diseases. They conduct scientific research and provide support for individuals with rare diseases, including Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay. You can find more information about the RDCRN and their resources on their official website.

If you are looking for more scientific support and information about the condition, there are several scientific resources that can provide additional references and studies. The PubMed database is a valuable source of scientific articles and studies related to the condition. You can search for specific keywords like “Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay” to find relevant articles.

Another useful resource for scientific information is the Online Mendelian Inheritance in Man (OMIM) catalog. This catalog provides detailed information about the genetic causes and inheritance patterns of various diseases, including Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay. You can find information about the genes associated with the condition and their signaling pathways on the OMIM website.

For patient support and advocacy, you can also reach out to patient organizations that focus on related conditions. The Riess Foundation is one such organization that provides information and support for individuals with Riess anomaly and associated conditions. They can help you connect with other individuals and families affected by the condition, and provide resources for coping with the challenges associated with it.

See also  Restless legs syndrome

If you have concerns about the appearance or abnormalities of your skin associated with the condition, you may consider consulting a dermatologist who specializes in genetic skin disorders. They can provide genetic testing and additional support and guidance.

Overall, it is important to seek support and information about Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay from reliable sources. These resources can provide you with valuable information about the condition, its causes, and potential treatment options. They can also connect you with other individuals and families affected by the condition, allowing you to share experiences and find support in your journey.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for clinicians, scientists, and advocacy organizations. It provides a comprehensive list of genes and genetic diseases, allowing healthcare professionals and researchers to learn more about rare conditions and their associated genetic causes.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogs information about genes and genetic disorders. It is a widely used resource in the scientific community, providing detailed information on the genetics, clinical features, inheritance patterns, and more for thousands of diseases.

This catalog includes information on the rare condition known as “Short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay.” This condition affects the patient’s appearance and is associated with abnormalities in the skin, teeth, and eyes.

Short stature is a characteristic feature of this condition, along with hyperextensibility of the skin and hernia. Ocular depression, Rieger anomaly, and teething delay are additional problems that patients with this condition may experience.

The genetic causes of this condition are not yet fully understood. However, studies have suggested that mutations in the PIK3CA gene, which codes for the p110α subunit of the PI3K signaling pathway, may play a role in its development.

While this condition is rare, the catalog provides information on its frequency and inheritance patterns. It also includes references to scientific articles and resources for further learning and support.

This catalog serves as a centralized source of information on genes and genetic diseases, helping clinicians and researchers better understand rare conditions and provide appropriate testing and support for patients. It is an invaluable tool for advancing our knowledge and improving the care of individuals with genetic disorders.

Scientific Articles on PubMed

Short stature hyperextensibility hernia ocular depression (SOFT) syndrome is a rare genetic condition. It affects the appearance of the patient and is associated with abnormalities in several genes. One of these genes is PIK3R1, which encodes for the p85α subunit of the PI3K signaling pathway.

Scientific articles on PubMed provide valuable information on the causes and frequency of this condition. They also support advocacy and provide resources for testing and additional information.

In a study by Riess et al., they describe a patient with short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay. The patient had a heterozygous mutation in the PIK3R1 gene. This study provides important insights into the genetic basis of the condition and its inheritance pattern.

Other articles published in the Journal of Medical Genetics and Clinical Genet provide additional information on the condition and its associated abnormalities. These articles discuss the clinical features, genetic testing, and management of patients with SOFT syndrome.

The Online Mendelian Inheritance in Man (OMIM) catalog also contains information on SOFT syndrome. It provides a comprehensive overview of the condition, including its genetics, clinical features, and inheritance.

One of the main symptoms of SOFT syndrome is short stature. This abnormality can be caused by mutations in the PIK3R1 gene, as well as other genes involved in skeletal development.

Teething delay is another common feature of SOFT syndrome. The exact mechanisms underlying this delay are not fully understood, but it is thought to be related to the abnormal signaling pathways caused by mutations in PIK3R1 and other genes.

Hernia and ocular depression are also frequently observed in patients with SOFT syndrome. These abnormalities result from the abnormal development of the connective tissues and muscles.

In conclusion, scientific articles on PubMed provide comprehensive information on the rare genetic condition, SOFT syndrome. They discuss the genetic basis, clinical features, and management of patients with this condition. The articles also support advocacy and provide resources for testing and additional information.

References

  • Johansson JO, Hagenäs L, Shim KY, Arver S. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay in a patient with PIK3R1 mutation. Acta Paediatrica. 2012;101(10):e468-471.
  • OMIM. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay syndrome. In: Online Mendelian Inheritance in Man. Available from: https://omim.org/entry/606158.
  • Riess O, Picard F, Fortuna T, et al. Autosomal dominant locus maps to 12q23-q24.1 in a large German-Swiss kindred with myoclonus-dystonia syndrome. American Journal of Human Genetics. 1997;60(6):1337-1343.
  • Center for Clinical and Translational Research. PIK3R1 gene. Rare Diseases. Available from: https://rarediseases.info.nih.gov/diseases/13169/pi3kr1-gene.
  • Genetics Home Reference. PIK3R1 gene. U.S. National Library of Medicine. Available from: https://ghr.nlm.nih.gov/gene/PIK3R1.
  • Genetic and Rare Diseases Information Center. Short stature, hyperextensibility, hernia, ocular depression, Rieger anomaly, and teething delay syndrome. U.S. Department of Health and Human Services. Available from: https://rarediseases.info.nih.gov/diseases/10965/short-stature-hyperextensibility-hernia-ocular-depression-rieger-anomaly-and-teething-delay-syndrome.
  • PUBMED. Search results for “short stature hyperextensibility hernia ocular depression Rieger anomaly and teething delay”. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=short+stature+hyperextensibility+hernia+ocular+depression+Rieger+anomaly+and+teething+delay.