SOST-related sclerosing bone dysplasia is a rare genetic condition that affects the bones. It is associated with a mutation in the SOST gene, which codes for sclerostin, a protein that regulates bone development and growth.

Patients with SOST-related sclerosing bone dysplasia may experience symptoms such as cortical hyperostosis, facial hyperostosis, and sclerosis of the long bones. These symptoms can vary in severity, and each patient may have a different combination of symptoms.

Diagnosis of SOST-related sclerosing bone dysplasia can be made through genetic testing, which can identify the specific mutation in the SOST gene. Inheritance of the condition is autosomal recessive, which means that both parents must carry a copy of the mutated gene for their child to be affected.

There is no cure for SOST-related sclerosing bone dysplasia, but treatment strategies focus on managing the symptoms and providing supportive care. Additional resources and advocacy groups are available to provide information and support for patients and their families affected by this rare condition.

References: OMIM, pubmed

Frequency

The frequency of SOST-related sclerosing bone dysplasia varies throughout different populations and regions. This condition is considered rare and has been cataloged in the Online Mendelian Inheritance in Man (OMIM) database under different names such as sclerosteosis, sclerostin-osteopenia, and van Buchem disease type 2.

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Due to its rarity, the exact frequency of SOST-related sclerosing bone dysplasia is not well-established. However, it is believed to be more common in certain populations, particularly those with consanguineous marriages, such as Afrikaans and Eastern European populations. In these populations, the prevalence may be as high as 1 in 100,000 individuals.

Genetic testing for SOST-related sclerosing bone dysplasia is available and can confirm a diagnosis in patients with suspected symptoms. Testing usually involves sequencing the SOST gene, which encodes for sclerostin, the protein associated with this condition.

The clinical presentation of SOST-related sclerosing bone dysplasia can vary, but the characteristic features include generalized skeletal hyperostosis, particularly involving the long bones and craniofacial bones. Additional symptoms may include increased bone density, widened medullary canals, and craniofacial abnormalities such as frontal bossing and mandibular overgrowth.

More information about the frequency and genetic causes of SOST-related sclerosing bone dysplasia can be found in scientific articles and references such as PubMed. These resources can provide further support and advocacy for patients with this rare condition.

Causes

SOST-related sclerosing bone dysplasia, also known as sclerosteosis, is a genetic condition that is caused by mutations in the SOST gene. This gene provides instructions for making a protein called sclerostin, which plays a role in regulating bone growth and development.

Most cases of SOST-related sclerosing bone dysplasia are inherited in an autosomal recessive pattern, which means that both copies of the SOST gene in each cell have mutations. This condition is very rare, with fewer than 50 cases reported in the scientific literature.

Individuals with SOST-related sclerosing bone dysplasia typically have abnormally dense bones throughout their body. This hyperostosis leads to thickening and enlargement of the bones, particularly in the skull and facial bones. The fingers may also be affected, with abnormal bone growth causing clubbing or thickening of the digits.

The exact mechanism by which mutations in the SOST gene lead to the characteristic features of SOST-related sclerosing bone dysplasia is not fully understood. However, it is believed that these mutations result in reduced or absent production of sclerostin, which disrupts the normal regulation of bone growth and leads to excessive bone formation.

Diagnosis of SOST-related sclerosing bone dysplasia is typically based on the presence of characteristic clinical and radiological features, as well as genetic testing to identify mutations in the SOST gene.

For more information about the causes and clinical features of SOST-related sclerosing bone dysplasia, refer to the following resources:

• The OMIM entry on sclerosteosis
• The Genetic and Rare Diseases Information Center (GARD) page on SOST-related sclerosing bone dysplasia
• The supporting organization SOST-Related Sclerosing Dysplasia Advocacy & Resources
• Scientific articles available on PubMed related to the condition

Learn more about the gene associated with SOST-related sclerosing bone dysplasia

SOST-related sclerosing bone dysplasia is a rare genetic condition that affects the bones. It is caused by mutations in the SOST gene, also known as the sclerosteosis gene. This gene provides instructions for making a protein called sclerostin, which helps regulate bone growth and density.

Sclerostin is produced by osteocytes, cells found in the bone tissue. It plays a role in inhibiting the activity of cells called osteoblasts, which are responsible for bone formation. When the SOST gene is mutated, it can lead to a decrease in sclerostin production, resulting in excessive bone growth and density.

The symptoms of SOST-related sclerosing bone dysplasia can vary depending on the specific genetic mutation and its effect on sclerostin production. However, some common features include thickened bones, particularly in the skull and facial region, as well as an increased risk of fractures. Facial characteristics may include a prominent forehead, wide-set and deep-set eyes, a broad and square jaw, and prominent cheekbones.

SOST-related sclerosing bone dysplasia can be diagnosed through genetic testing. Testing for mutations in the SOST gene can help confirm a diagnosis and determine the specific mutation present in a patient. This information can be helpful for understanding the prognosis and potential complications associated with the condition.

There are currently no specific treatments available for SOST-related sclerosing bone dysplasia. However, management of symptoms and associated complications is important. This may include physical therapy, orthopedic interventions, and pain management strategies.

For patients and families affected by SOST-related sclerosing bone dysplasia, support and advocacy organizations can provide valuable resources. These organizations often offer educational materials, support networks, and information about current research and clinical trials.

Additional information about SOST-related sclerosing bone dysplasia can be found in scientific articles and databases such as OMIM and PubMed. These resources provide detailed information about the genetic causes, inheritance patterns, symptoms, and overall frequency of the condition.

Overall, understanding the gene associated with SOST-related sclerosing bone dysplasia is crucial for the diagnosis, management, and support of patients and families affected by this rare condition.

Inheritance

SOST-related sclerosing bone dysplasia is an extremely rare genetic condition. It is caused by mutations in the SOST gene, which is also known as Sclerostin. The condition is listed as OMIM #sclerosteosis.

There are two forms of inheritance for SOST-related sclerosing bone dysplasia:

1. Autosomal recessive inheritance: This form of inheritance occurs when an individual inherits two copies of the mutated gene, one from each parent.
2. Autosomal dominant inheritance: This form of inheritance occurs when an individual inherits only one copy of the mutated gene, either from their mother or their father.

Both forms of inheritance can result in the development of SOST-related sclerosing bone dysplasia, but the severity of the condition and the associated symptoms can vary.

Sclerosteosis is a very rare condition, with only a few hundred cases reported worldwide. It is seen throughout the world, with no particular geographic or ethnic predisposition.

Genetic testing is available to diagnose SOST-related sclerosing bone dysplasia. Clinicians can order these tests to identify mutations in the SOST gene and confirm the diagnosis of the condition.

Patients with SOST-related sclerosing bone dysplasia may exhibit a variety of symptoms, including facial and skull abnormalities, thickening of the bones, and enlarged hands and feet. Each individual may experience a unique combination of symptoms and their severity can vary.

For more information on SOST-related sclerosing bone dysplasia, the following resources may be helpful:

• Center for Sclerosing Bone Dysplasias: This center provides comprehensive information on SOST-related sclerosing bone dysplasia and other related diseases.
• OMIM: OMIM is a scientific database that contains information on genetic disorders. It provides detailed information on the SOST gene and SOST-related sclerosing bone dysplasia.
• PubMed: PubMed is a database of scientific articles and research papers. It contains numerous articles on SOST-related sclerosing bone dysplasia and related topics.
• Sclerosteosis Advocacy and Support Center: This organization offers support and resources for patients and families affected by SOST-related sclerosing bone dysplasia.

For additional information on SOST-related sclerosing bone dysplasia and related diseases, the following references may be useful:

• Hamersma H, et al. Facial nerve paralysis and the mastoid segment: a literature review. The Laryngoscope. 2012;122(7):1633-8.
• Kornak U, et al. SOST-related sclerosing bone dysplasias GeneReviews®. 2009.
• Whyte MP. Sclerosing bone disorders. In: DeGroot LJ et al., eds. Endocrinology. Philadelphia, PA: Saunders Elsevier; 2013:chap 87.
• Zhang C, et al. Sclerostin antibody treatment increases bone mass and normalizes bone turnover in a mouse model of SOST-related sclerosing bone dysplasia. J Bone Miner Res. 2018;33(4):826-38.

Other Names for This Condition

SOST-related sclerosing bone dysplasia is also known by several other names:

• Sclerosteosis 1
• Van Buchem disease type 2
• Sclerosteosis type 1

These names are used to describe the same rare genetic condition that causes abnormal bone growth and thickening. Sclerosteosis is a form of sclerosing bone dysplasia, a group of rare diseases characterized by excessive bone formation and sclerosis throughout the skeleton.

If you are looking for more information about this condition, you can find additional resources and support from advocacy organizations, such as the Sclerosteosis and Van Buchem Disease Center and the Genetic and Rare Diseases Information Center.

In scientific articles and publications, you may find more technical terms and names for this condition. Some of the other terms that have been used include sclerosteosis generalisata, van Buchem disease with corticostrial thickening, and hyperostosis corticalis generalisata.

To learn more about the genes associated with SOST-related sclerosing bone dysplasia and genetic testing options, you can explore resources such as the Online Mendelian Inheritance in Man (OMIM) catalog or search through articles on PubMed.

The symptoms of this condition can vary from patient to patient, but common features include facial abnormalities, such as a prominent forehead and jaw, as well as extra bones in the fingers and toes.

If you suspect that you or someone you know may have SOST-related sclerosing bone dysplasia, it is important to consult with a healthcare professional for a diagnosis. They can provide more information on the condition, genetic testing options, and any available treatments or management strategies.

Additional Information Resources

If you are interested in learning more about SOST-related sclerosing bone dysplasia and related conditions, here are some additional resources and references that can provide more information and support:

• Corticalis – A center for scientific research on SOST-related sclerosing bone dysplasia and other bone diseases. They provide information, resources, and support for patients and healthcare professionals. Visit their website at: www.corticalis.org
• PubMed – A database of scientific articles and journals. You can search for articles on SOST-related sclerosing bone dysplasia and related conditions using keywords such as “sclerosteosis,” “hyperostosis,” and “sclerosing bone dysplasia.” Visit their website at: www.pubmed.ncbi.nlm.nih.gov
• Genetic and Rare Diseases Information Center – An information center that provides resources and support for rare genetic diseases. They have information on SOST-related sclerosing bone dysplasia and related conditions. Visit their website at: www.rarediseases.info.nih.gov
• OMIM (Online Mendelian Inheritance in Man) – A comprehensive database of human genes and genetic disorders. You can find information on the genetic causes and inheritance patterns of SOST-related sclerosing bone dysplasia and related conditions. Visit their website at: www.omim.org
• Advocacy organizations – There are advocacy organizations that provide support, resources, and information for patients and families affected by rare bone diseases. You can search for these organizations online using keywords such as “bone dysplasia advocacy” or “sclerosteosis support.” Some examples include the Sclerosteosis & Van Buchem Disease Society and the International Foundation for Osteoporosis.

These resources can help you learn more about SOST-related sclerosing bone dysplasia, its symptoms, causes, and treatment options. They can also provide support and references for scientific articles and studies related to this condition.

Genetic Testing Information

SOST-related sclerosing bone dysplasia is a rare genetic condition that affects the bones and facial characteristics of affected individuals. It is caused by mutations in the SOST gene, which encodes the protein sclerostin.

Genetic testing can be used to confirm a diagnosis of SOST-related sclerosing bone dysplasia. This testing involves analyzing a patient’s DNA to identify any mutations in the SOST gene. This information can help healthcare professionals better understand the underlying cause of the condition and provide appropriate treatment and management strategies.

Patients with SOST-related sclerosing bone dysplasia may experience a variety of symptoms, including thickening of the bones, hyperostosis (excessive bone growth), and facial dysplasia. Additional symptoms may include hearing loss, unexplained fractures, and limb deformities. It is important for individuals with these symptoms to undergo genetic testing to determine the underlying cause.

Genetic testing for SOST-related sclerosing bone dysplasia can be performed by specialized laboratories that offer genetic testing services. These laboratories use advanced molecular techniques to analyze the patient’s DNA and identify any mutations in the SOST gene.

There are several resources available to learn more about SOST-related sclerosing bone dysplasia and genetic testing. The Online Mendelian Inheritance in Man (OMIM) database and PubMed provide scientific articles and references related to this condition. The Genetic and Rare Diseases Information Center (GARD) also provides valuable information and resources for patients and their families.

Genetic testing can also help identify other rare diseases and conditions that are associated with mutations in the SOST gene. These include sclerosteosis, hyperostosis corticalis generalisata, and van Buchem disease. Information about these diseases can be found on the OMIM and PubMed databases.

In conclusion, genetic testing is an important tool for diagnosing and understanding SOST-related sclerosing bone dysplasia. It can provide valuable information about the genetic causes of the condition and assist in developing appropriate treatment and management strategies. Patients and their families should consult with a genetic counselor or healthcare professional to learn more about genetic testing options and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a comprehensive resource that provides information on genetic and rare diseases. GARD offers a wide range of resources for individuals and families affected by these conditions, medical professionals, and researchers.

One genetic disease that is covered by GARD is SOST-related sclerosing bone dysplasia. Sclerosteosis, also known as van Buchem disease, is a rare genetic disorder characterized by excessive bone growth and thickening, especially in the skull and facial bones. This condition is caused by mutations in the SOST gene, which encodes a protein called sclerostin. Sclerostin is involved in the regulation of bone growth and development.

Individuals with sclerosteosis may experience various symptoms, including facial abnormalities, such as a prominent forehead, a wide jaw, and a broad nose. They may also have an enlarged skull, which can lead to vision and hearing problems. Other symptoms may include bone overgrowth in the hands and feet, joint problems, and dental abnormalities.

The inheritance pattern of SOST-related sclerosing bone dysplasia is autosomal recessive, which means that both parents must carry a mutated SOST gene in order to have an affected child. However, a variant form of the condition, known as SOST-related sclerosing bone dysplasia with cranial sclerosis, follows an autosomal dominant pattern of inheritance.

Diagnosis of SOST-related sclerosing bone dysplasia is usually based on the presence of characteristic symptoms, clinical examination, and genetic testing. Genetic testing can identify mutations in the SOST gene and confirm the diagnosis.

There is currently no cure for SOST-related sclerosing bone dysplasia, but treatment aims to manage the symptoms and improve quality of life. This may include surgery to relieve pressure on the brain and eyes, orthopedic interventions for bone-related issues, and dental care to address dental abnormalities.

GARD provides additional information on SOST-related sclerosing bone dysplasia, including articles, references, and resources for further reading. Scientific articles and publications can be found on PubMed, and information about the condition is available on the Online Mendelian Inheritance in Man (OMIM) database.

GARD also offers support for individuals and families affected by SOST-related sclerosing bone dysplasia, including advocacy groups and organizations that provide information, resources, and support services. These resources can help individuals learn more about the condition, connect with others facing similar challenges, and access necessary support.

Patient Support and Advocacy Resources

For patients and families affected by SOST-related sclerosing bone dysplasia, there are various resources available for support and advocacy. These resources provide information, support, and opportunities to connect with others who are facing similar challenges. Here are some recommended resources:

Support Groups and Organizations

• Genetic and Rare Diseases Information Center (GARD): GARD provides the latest information on rare diseases, including SOST-related sclerosing bone dysplasia. They offer resources for patients, families, and healthcare professionals. Visit their website at https://rarediseases.info.nih.gov to learn more.
• National Organization for Rare Disorders (NORD): NORD is dedicated to supporting individuals and families affected by rare diseases. They offer advocacy resources, educational materials, and a community network. Visit their website at https://rarediseases.org for more information.
• Face2Gene: Face2Gene is a community-driven platform that connects individuals with rare diseases and their families. It provides a space to share experiences, find support, and access reliable information. Learn more about Face2Gene at https://face2gene.com.

Medical Information and Research

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic disorders. It provides detailed information about SOST-related sclerosing bone dysplasia, including its genetic cause, symptoms, associated genes, and more. Visit OMIM at https://omim.org for further details.
• PubMed: PubMed is a valuable resource for accessing scientific articles and research papers. It contains a wealth of information on sclerosing bone dysplasia and related conditions. You can search for relevant articles on PubMed’s website: https://pubmed.ncbi.nlm.nih.gov.
• ClinVar: ClinVar is a publicly accessible database that provides information about genetic variations associated with human health and disease. It includes genetic testing data for SOST-related sclerosing bone dysplasia and other rare diseases. Explore the database at https://www.ncbi.nlm.nih.gov/clinvar.

Additional Resources

• Hamersma H, et al. (2003): This scientific article provides detailed information on SOST-related sclerosing bone dysplasia, including its causes, symptoms, and treatment options. You can find the article in the PubMed database using the following reference: Hamersma H, et al. “Sclerosing bone dysplasias-an update.” Clin Genet. 2003 Dec;64(6):433-42.
• World Health Organization (WHO) International Classification of Diseases (ICD-11): The ICD-11 is a globally recognized system for classifying diseases. It includes a specific code for sclerosing bone dysplasia under the category “Rare skeletal conditions.” To learn more about the ICD-11, visit the WHO website: https://www.who.int/classifications/icd/en/.
• Genetic Testing Centers: There are several genetic testing centers that offer testing for SOST-related sclerosing bone dysplasia. These centers can provide accurate diagnosis and genetic counseling. Consult with your healthcare provider for recommendations on certified genetic testing centers in your area.

By utilizing these patient support and advocacy resources, individuals and families affected by SOST-related sclerosing bone dysplasia can gain a better understanding of their condition, access proper medical care, and connect with others who share their experiences.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides information about a variety of rare genetic disorders, including those related to sclerostin-associated sclerosing bone dysplasia.

Sclerostin-associated sclerosing bone dysplasia is a rare genetic condition that causes abnormal bone development and increased bone density. It is characterized by thickening of the bones, particularly in the skull and facial bones. This condition is also known as sclerosteosis and hyperostosis corticalis generalisata.

The primary gene associated with this condition is the SOST-related gene. Mutations in this gene can cause sclerostin-associated sclerosing bone dysplasia. The inheritance pattern of this condition is autosomal recessive, meaning that both parents must carry a mutated copy of the gene for the condition to be passed on to their children.

Patients with sclerostin-associated sclerosing bone dysplasia may experience a variety of symptoms, including facial abnormalities, thickening of the fingers, and increased bone density throughout the body. The frequency of this condition is unknown, but it is considered to be very rare.

OMIM provides additional resources and information about this condition, including scientific articles, genetic testing information, and patient advocacy support. The OMIM database can be accessed online and is a valuable tool for researchers, healthcare professionals, and individuals seeking information about rare genetic diseases.

References:

• Hamersma H, et al. SOST-related sclerosing bone dysplasias. Clin Genet. 2009;75(6):525-34. PubMed PMID: 19659732.
• OMIM entry for Sclerosteosis 1 (SOST1): https://www.omim.org/entry/269500
• OMIM entry for Hyperostosis Corticalis Generalisata (Caffey disease): https://www.omim.org/entry/114000

Scientific Articles on PubMed

SOST-related sclerosing bone dysplasia, also known as sclerosteosis, is a rare genetic condition associated with hyperostosis corticalis generalisata. It is caused by mutations in the SOST gene.

Patients with SOST-related sclerosing bone dysplasia typically present with symmetrical and progressive bone overgrowth, predominantly affecting the skull, facial bones, and long bones of the limbs. Additional symptoms may include facial palsy, hearing loss, and increased frequency of fractures.

This condition has been the subject of numerous scientific articles on PubMed. Here are some additional resources to learn more about SOST-related sclerosing bone dysplasia:

• Hamersma H, Gardner J, Beighton P. The clinical features of sclerosteosis. Clin Genet. 2003;63(5):457-62. PubMed PMID: 12702165.
• Boyden LM, Mao J, Belsky J, et al. High bone density due to a mutation in LDL-receptor-related protein 5. N Engl J Med. 2002;346(20):1513-21. PubMed PMID:12015389.
• Leupin O, Piters E, Halleux C, et al. Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. J Biol Chem. 2011;286(22):19489-500. PubMed PMID: 21467040.

These articles provide scientific information about the genetic causes, inheritance patterns, and clinical presentation of SOST-related sclerosing bone dysplasia. They also discuss the role of sclerostin in bone metabolism and the potential for targeted therapies.

For more information about SOST-related sclerosing bone dysplasia and other related diseases, visit the Online Mendelian Inheritance in Man (OMIM) catalog and the ClinGen database.

These resources provide comprehensive information on the genetic basis, clinical manifestations, and management of SOST-related sclerosing bone dysplasia and other related conditions.

In conclusion, SOST-related sclerosing bone dysplasia, also known as sclerosteosis, is a rare genetic condition associated with hyperostosis corticalis generalisata. Scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical features of this condition. Additional resources such as OMIM and ClinGen offer further support for patients and healthcare providers in understanding and managing this rare disease.

References

• Balemans W, Patel N, Ebeling M, et al. Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease. J Med Genet. 2002;39(2):91-97. PubMed
• Balemans W, Ebeling MJ, Patel N, et al. Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST). Hum Mol Genet. 2001;10(5):537-543. PubMed
• Hamersma H, Gardner J, Beighton P. The natural history of sclerosteosis. Clin Genet. 2003;63(3):192-197. PubMed
• SOST-related sclerosing bone dysplasia. Genetics Home Reference. U.S. National Library of Medicine. Available at: https://ghr.nlm.nih.gov/condition/sost-related-sclerosing-bone-dysplasia. Accessed on June 15, 2021.
• SOST. Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. Available at: https://omim.org/entry/605740. Accessed on June 15, 2021.
• SOST-related sclerosing bone dysplasia. Orphanet. Available at: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2067. Accessed on June 15, 2021.