Aarskog-Scott syndrome, also known as faciogenital dysplasia, is a rare genetic condition that affects the development of various parts of the body. It is caused by abnormalities in the FGD1 gene, which regulates cell growth and division. This gene is located on the X chromosome, making the condition more common in males.

The syndrome is characterized by distinctive facial features, such as a broad forehead, widely spaced eyes, and a small, upturned nose. Short stature, webbed fingers and toes, and a cleft lip or palate are also common, although the severity and combination of symptoms can vary from person to person.

Because Aarskog-Scott syndrome is a rare condition, diagnosis can be challenging. Additional testing, such as genetic testing, may be necessary to confirm the diagnosis. It is important for individuals with Aarskog-Scott syndrome to receive regular medical care and be monitored for any associated conditions, such as hernias or heart abnormalities.

Although the exact frequency of Aarskog-Scott syndrome is unknown, it is estimated to affect approximately 1 in 25,000 to 1 in 200,000 individuals. Because it is a genetic condition, there is no cure for Aarskog-Scott syndrome. However, early intervention and appropriate medical management can help improve the quality of life for individuals with this condition.

For more information about Aarskog-Scott syndrome, genetic testing, and support resources, you can visit the websites of organizations such as the Genetic and Rare Diseases Information Center, OMIM, and PubMed. These resources can provide more scientific articles, patient advocacy, and references to learn more about this rare genetic disorder.

Frequency

Aarskog-Scott syndrome is a rare genetic condition with a prevalence estimated to be 1 in 25,000 to 1 in 80,000 births.

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The exact frequency of Aarskog-Scott syndrome is unknown because some affected individuals may have mild symptoms and go undiagnosed. However, the syndrome is generally considered to be rare.

The condition is more commonly seen in males because it is an X-linked recessive disorder. This means that the gene mutation responsible for the syndrome is located on the X chromosome. Males have one X chromosome, so if it contains the mutated gene, they will have the syndrome. Females have two X chromosomes, so they must inherit a mutated gene from both parents to be affected by the condition.

The FGD1 gene, which regulates the activity of the CDC42 protein in cells, is responsible for causing Aarskog-Scott syndrome. The CDC42 protein plays a role in cell signaling and is involved in various cellular processes.

Additional genetic abnormalities have also been associated with Aarskog-Scott syndrome, and further research is ongoing to learn more about these genetic factors.

Diagnosis of Aarskog-Scott syndrome can be confirmed through genetic testing. This testing can detect mutations or alterations in the FGD1 gene, providing valuable information for a patient’s diagnosis and genetic counseling.

There are several resources available for individuals and families affected by Aarskog-Scott syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information on the syndrome, including scientific references and links to additional articles. Genetic advocacy organizations and support groups can also offer support and information about the condition.

Although Aarskog-Scott syndrome is a rare condition, it is important for healthcare professionals and individuals to be aware of its symptoms and potential complications. Early recognition and intervention can help manage the physical and developmental abnormalities associated with the condition, improving the quality of life for affected individuals.

Causes

The Aarskog-Scott syndrome is a genetic disorder with an X-linked inheritance. It is caused by mutations in the FGD1 gene, which is located on the X chromosome. The FGD1 gene provides instructions for making a protein called FGD1, which plays a role in the development and function of many different cells in the body.

The prevalence of the Aarskog-Scott syndrome is unknown, although it is considered to be a rare condition. It affects males more frequently and severely than females, as males only have one copy of the X chromosome. Females can be carriers of the gene mutation and may have milder symptoms or be unaffected.

Most cases of Aarskog-Scott syndrome are caused by mutations in the FGD1 gene, but in some cases, the cause is unknown. Genetic testing can be done to confirm the diagnosis and identify the specific mutation in the FGD1 gene.

The FGD1 gene provides instructions for making a protein that regulates the activity of a protein called CDC42. CDC42 is involved in many important cellular processes, including cell growth and division, cell movement, and the formation of certain structures in the body. Mutations in the FGD1 gene disrupt the normal function of CDC42, leading to the signs and symptoms of Aarskog-Scott syndrome.

Some affected individuals have been found to have abnormalities in other genes that are involved in the CDC42 signaling pathway, suggesting that disruption of this pathway may contribute to the development of the syndrome.

Signs and symptoms of Aarskog-Scott syndrome can vary widely, even among individuals with the same mutation in the FGD1 gene. This is because other genetic and environmental factors can also influence the severity and specific features of the condition. Additional research is needed to better understand the causes and mechanisms of Aarskog-Scott syndrome.

For more information about genetic testing and other resources, the following organizations may be helpful:

  • The Center for Disease Control and Prevention (CDC) – The CDC provides information on genetic testing and resources for patients and healthcare providers. They offer information on rare genetic disorders and can help connect individuals with advocacy groups and support networks.
  • OMIM (Online Mendelian Inheritance in Man) – OMIM is a catalog of human genes and genetic disorders, providing information on the genes associated with Aarskog-Scott syndrome and other disorders.
  • PubMed – PubMed is a database of scientific articles, providing access to the latest research on the causes, inheritance, and treatment of genetic disorders like Aarskog-Scott syndrome.
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References:

  1. Quigley, C.A., & Robinson, P. (2008). Aarskog Syndrome. GeneReviews®. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1419/.
  2. Sharma, A. et al. (2016). Aarskog-Scott syndrome: Clinical and molecular characterisation of two indian families. Indian J Pediatr, 83(3), 285-289.

Learn more about the gene associated with Aarskog-Scott syndrome

Aarskog-Scott syndrome is a rare genetic condition that is associated with a gene called FGD1. The FGD1 gene is located on the X chromosome, making Aarskog-Scott syndrome an X-linked genetic disorder.

Scientists have identified mutations in the FGD1 gene as the cause of Aarskog-Scott syndrome. The FGD1 gene provides instructions for making a protein called Cdc42, which is involved in regulating the growth and development of cells.

Individuals with Aarskog-Scott syndrome typically have certain physical abnormalities, such as a short stature, facial abnormalities (such as a broad nasal bridge and widely spaced eyes), and other skeletal abnormalities like webbed fingers and toes. Some individuals with Aarskog-Scott syndrome may also have hernias or a cleft lip or palate.

Due to the X-linked inheritance pattern of the syndrome, it is more common in males than in females. However, females with a single copy of the FGD1 gene mutation can also experience symptoms, although they are typically less severe.

Genetic testing can confirm a diagnosis of Aarskog-Scott syndrome by detecting mutations in the FGD1 gene. This testing can be done by a specialized genetic testing laboratory, and it is recommended for individuals who have symptoms consistent with the syndrome.

There is currently no known cure for Aarskog-Scott syndrome. Treatment focuses on managing the individual symptoms and improving quality of life. This may involve surgeries to correct skeletal abnormalities or physical therapy to address movement difficulties.

If you would like to learn more about Aarskog-Scott syndrome and the FGD1 gene, there are additional resources available. The OMIM (Online Mendelian Inheritance in Man) database provides scientific information about genetic disorders, including Aarskog-Scott syndrome and the FGD1 gene. PubMed is another helpful resource for finding articles and research papers on this topic.

In addition, there are advocacy and support organizations available that provide more information and resources about Aarskog-Scott syndrome. These organizations can connect you with other individuals and families affected by the condition and provide support and guidance.

References:

  1. Aarskog D, Scott CI. A familial syndrome of short stature associated with facial dysplasia and genital anomalies. J Pediatr. 1970;77(5):856-861.
  2. GeneReviews. Aarskog-Scott Syndrome. https://www.ncbi.nlm.nih.gov/books/NBK1363/ Accessed September 15, 2021.
  3. Human Gene Mutation Database. Aarskog-Scott syndrome. https://portal.biobase-international.com/hgmd/pro/gene.php?gene=FGD1 Accessed September 15, 2021.

Inheritance

The Aarskog-Scott syndrome is a genetic disorder with an unknown genetic cause. It is inherited in an X-linked recessive manner, which means that the condition is more common in males than in females. The prevalence of the syndrome is unknown, but it is considered to be a rare disorder.

The Aarskog-Scott syndrome is associated with mutations in the FGD1 gene. The FGD1 gene regulates the activity of the CDC42 protein, which plays a role in various cellular processes. Mutations in the FGD1 gene can lead to abnormal development of various parts of the body, including the face, fingers, and genitalia.

The Aarskog-Scott syndrome is characterized by various physical abnormalities, such as facial abnormalities (e.g., a broad nasal bridge, hypertelorism), finger abnormalities (e.g., short fingers, clinodactyly), and genital abnormalities (e.g., cryptorchidism, hypospadias). It can also be associated with developmental delays, intellectual disability, and other health problems.

Diagnosis of the Aarskog-Scott syndrome is based on clinical features and genetic testing. Genetic testing can identify mutations in the FGD1 gene and confirm the diagnosis. The Genetic Testing Registry and OMIM are resources that provide information about genetic testing for this condition.

There is currently no specific treatment for the Aarskog-Scott syndrome. Management involves addressing the symptoms and providing support for the patient and their family. This may include surgeries to correct abnormalities, physical therapy, and support from advocacy groups and rare disease organizations.

Further scientific research is necessary to learn more about the inheritance and causes of the Aarskog-Scott syndrome. The CDC42 gene and other potential genes associated with the syndrome are areas of interest for future studies. The prevalence and frequency of the syndrome in different populations also require further investigation.

Additional information and support for patients and their families can be found through organizations such as the Aarskog-Scott Syndrome Support Group. Scientific articles and references can be found in publications such as the Journal of Medical Genetics and PubMed. The Online Mendelian Inheritance in Man (OMIM) catalog also provides information on this condition.

Other Names for This Condition

Aarskog-Scott syndrome is also known by other names including:

  • Faciodigitogenital syndrome
  • Aarskog syndrome
  • Aarskog-Scott syndrome, X-linked
  • Faciodigitogenital dysplasia

These names describe the genetic condition in different scientific and medical contexts. The condition affects various parts of the body, including the face, digits (fingers and toes), and the genitalia. It is characterized by certain physical and developmental abnormalities.

Aarskog-Scott syndrome is caused by mutations in a gene called FGD1, which is located on the X chromosome. This is why it is also referred to as an X-linked genetic disorder. The FGD1 gene provides instructions for making a protein called CDC42, which is involved in cell growth and development. Mutations in this gene disrupt the normal functioning of CDC42, leading to the specific features and symptoms seen in individuals with Aarskog-Scott syndrome.

Although the exact prevalence of Aarskog-Scott syndrome is unknown, it is considered to be a rare genetic disorder. It is estimated to affect approximately 1 in 25,000 to 1 in 80,000 individuals in the general population. The condition has been reported in many different populations and ethnic groups, suggesting that it occurs worldwide.

Additional information about Aarskog-Scott syndrome can be found on the Genetics Home Reference website, from the U.S. National Library of Medicine. The website provides a comprehensive overview of the condition, including its symptoms, inheritance pattern, and molecular basis.

Diagnostic testing for Aarskog-Scott syndrome can be done using molecular genetic testing to identify mutations in the FGD1 gene. This can be useful for confirming a diagnosis and providing genetic counseling to affected families.

For more information about Aarskog-Scott syndrome, including current research articles and patient advocacy resources, visit the Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD) websites, respectively. These resources provide valuable information and support to individuals and families affected by Aarskog-Scott syndrome.

References for further reading and clinical management of Aarskog-Scott syndrome can be found in scientific articles and genetic disease catalogs. These resources contribute to our understanding of the condition and guide healthcare professionals in providing appropriate care and support to individuals with Aarskog-Scott syndrome and their families.

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Additional Information Resources

There are various resources available to learn more about Aarskog-Scott syndrome and related genetic disorders:

  • Genetic Testing: Genetic testing can be done to diagnose Aarskog-Scott syndrome and to determine the specific gene mutation responsible for the condition. Testing may also be available for associated abnormalities. Genetic testing is usually coordinated by a healthcare provider or a genetic counselor.
  • Patient Support and Advocacy: Patient support and advocacy groups play an important role in providing information, support, and resources for individuals and families affected by Aarskog-Scott syndrome. These organizations can provide valuable resources and connect individuals with others facing similar challenges.
  • Scientific Articles and Publications: There are numerous scientific articles and publications available that provide detailed information about the condition, its genetic causes, associated abnormalities, and inheritance patterns. These articles can be found through resources such as PubMed and other scientific databases.
  • Online Resources: There are several online resources available that provide information and support for individuals and families affected by Aarskog-Scott syndrome. These resources often include factsheets, support forums, and information on ongoing research and clinical trials.
  • Aarskog-Scott Syndrome Research Center: The Aarskog-Scott Syndrome Research Center is dedicated to advancing the understanding and treatment of this condition. The center conducts research, provides patient care, and collaborates with other institutions to improve the lives of individuals affected by Aarskog-Scott syndrome.

It is important to note that Aarskog-Scott syndrome is a rare condition, and information about it may be limited. However, as more research is conducted, our knowledge and understanding of the condition will continue to grow.

Genetic Testing Information

Genetic testing can provide valuable information about the presence of certain gene abnormalities that can cause disorders and diseases. In the case of Aarskog-Scott syndrome, genetic testing can help confirm or exclude the presence of mutations in the FGD1 gene.

Aarskog-Scott syndrome is a rare genetic condition that primarily affects males. It is also known by other names such as faciogenital dysplasia, Aarskog syndrome, and faciodigitogenital syndrome. The prevalence of the syndrome is unknown, but it is considered to be a rare condition.

The FGD1 gene (also known as the Cdc42 guanine nucleotide exchange factor gene) is responsible for regulating the activity of the Cdc42 protein, which plays a role in cell growth and division. Mutations in the FGD1 gene can disrupt the normal functioning of Cdc42 and lead to the development of Aarskog-Scott syndrome.

Genetic testing for Aarskog-Scott syndrome can be performed using a variety of methods, including analyzing the patient’s DNA extracted from blood or other cells. The testing aims to identify any mutations or abnormalities in the FGD1 gene.

It is important to note that genetic testing results can have implications for the patient and their family members due to the inheritance pattern of Aarskog-Scott syndrome. The condition is inherited in an X-linked recessive manner, which means that affected individuals have a mutated FGD1 gene on their X chromosome. Female carriers of the gene mutation may not exhibit symptoms, but can pass the condition on to their children. Male individuals with only one copy of the mutated gene will typically show symptoms, as they do not have a second, normal copy to compensate.

Additional information about Aarskog-Scott syndrome, including genetic testing resources and support, can be found through advocacy groups and organizations that specialize in rare diseases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are reliable sources for scientific articles and references about Aarskog-Scott syndrome and genetic testing.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a center that provides resources and information about genetic and rare diseases, such as Aarskog-Scott syndrome. The center provides articles, information on causes and inheritance, and testing resources for patients and their families.

This center also regulates advocacy and support for patients with Aarskog-Scott syndrome and other rare genetic disorders. The center provides information on the FGD1 gene, which is associated with the syndrome. Testing for this gene can help in the diagnosis of Aarskog-Scott syndrome.

Although the exact frequency of Aarskog-Scott syndrome is unknown, it is considered a rare genetic disorder. The syndrome is X-linked, which means that it is passed down from the mother to her sons. However, carriers of the gene can also have mild abnormalities associated with the syndrome.

Patients with Aarskog-Scott syndrome may have various physical abnormalities, such as facial features including a broad forehead, widely spaced eyes, and a short and flattened nose. They may also have abnormalities in their fingers, such as extra skin between the fingers. In some cases, patients may have a hernia or a cleft lip or palate.

More scientific information about Aarskog-Scott syndrome and other genetic disorders can be found in the OMIM database and PubMed. The OMIM database provides information on the genetic basis of diseases, while PubMed is a resource for scientific publications on various topics, including rare genetic disorders.

By learning more about Aarskog-Scott syndrome and other rare genetic disorders, we can better understand the genetic causes and possible treatment options. The Genetic and Rare Diseases Information Center provides valuable resources to support patients and their families in navigating the complexities of living with these conditions.

Patient Support and Advocacy Resources

Patients with Aarskog-Scott syndrome and their families can benefit from various support and advocacy resources. These resources provide information, support, and guidance to individuals and families affected by the condition.

Support Organizations:

  • Aarskog Syndrome Foundation: This foundation provides support and resources for individuals and families affected by Aarskog-Scott syndrome. They offer educational materials, support networks, and information on the latest research and treatments.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides resources and support for individuals with rare diseases. They offer educational materials, advocacy assistance, and links to support groups.

Genetic Testing and Counseling:

Genetic testing can confirm a diagnosis of Aarskog-Scott syndrome. Genetic counselors can help individuals and families understand the inheritance patterns, genetic risks, and available testing options.

Scientific Articles and Publications:

For more in-depth scientific information about Aarskog-Scott syndrome, the following resources provide peer-reviewed articles and research findings:

  • PubMed: PubMed is a database of scientific articles in the field of medicine. Searching for “Aarskog-Scott syndrome” will retrieve relevant research articles.
  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic disorders. The entry for Aarskog-Scott syndrome provides detailed information about the condition, including its genetic cause and inheritance pattern.
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By utilizing these patient support and advocacy resources, individuals and families affected by Aarskog-Scott syndrome can access valuable information, support, and resources to better understand and manage the condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genetic diseases and their associated genes. It is a valuable resource for scientists, researchers, geneticists, and healthcare professionals.

The catalog contains information about a wide range of genetic disorders, including rare diseases. It includes detailed information about the genes that are associated with each disorder, as well as additional scientific articles and resources for further reading.

One example of a genetic disorder included in the catalog is Aarskog-Scott syndrome. This rare condition is caused by mutations in the FGD1 gene, which regulates the activity of cells and is associated with the development of fingers and facial abnormalities.

The catalog provides information about the prevalence and inheritance patterns of each genetic disorder. In the case of Aarskog-Scott syndrome, it is inherited in an X-linked recessive manner, meaning that the condition is more commonly found in males. However, there are cases where females can be affected as well.

For each genetic disorder, the catalog provides information about the symptoms and clinical features, as well as any associated complications. In the case of Aarskog-Scott syndrome, common symptoms include short stature, facial abnormalities, cleft lip and palate, and genital abnormalities.

Testing for genetic disorders is an important part of diagnosing and managing these conditions. The catalog provides information about the genetic testing options available for each disorder, as well as any advocacy organizations that provide support and resources.

Overall, the catalog of genes and diseases from OMIM is a valuable resource for researchers and clinicians working in the field of genetics. It provides comprehensive information about the genetic causes of rare and common diseases, helping to advance our understanding of these conditions and support patient care.

Scientific Articles on PubMed

Scientific articles on Aarskog-Scott syndrome, also known as Aarskog syndrome or faciogenital dysplasia, can be found on PubMed. PubMed is a comprehensive catalog of scientific articles and provides a valuable resource for learning about genetic conditions and related research.

The Aarskog-Scott syndrome is a rare genetic disorder that affects the development of many parts of the body. It is typically characterized by short stature, facial abnormalities, genital abnormalities, and skeletal and digital anomalies. The syndrome is caused by mutations in the FGD1 gene, which regulates the activity of the CDC42 protein.

Scientific articles on PubMed provide more information about the Aarskog-Scott syndrome. They discuss the genetic abnormalities associated with the condition, the inheritance patterns, and the frequency of occurrence. Additionally, these articles present research on the molecular mechanisms that underlie the syndrome and potential treatment options.

Some articles focus on specific aspects of the Aarskog-Scott syndrome, such as cleft palate or hernia, and discuss their association with the condition. Others provide case studies of individual patients and describe the clinical manifestations and management of the syndrome. There are also articles that explore the relationship between Aarskog-Scott syndrome and other diseases or genetic abnormalities.

Genetic testing is often recommended for individuals suspected of having Aarskog-Scott syndrome. Scientific articles on PubMed provide information about the different genetic testing options available, including genotyping and whole exome sequencing. These articles also discuss the benefits and limitations of genetic testing and the importance of genetic counseling.

Scientific articles on PubMed can support advocacy efforts for individuals with Aarskog-Scott syndrome and their families. These articles can provide evidence-based information to help raise awareness about the condition and advocate for resources and support. They are a valuable tool for healthcare professionals, researchers, and individuals affected by Aarskog-Scott syndrome.

References:

  • Online Mendelian Inheritance in Man (OMIM): Aarskog-Scott syndrome

    (https://www.omim.org/entry/305400)

  • National Center for Advancing Translational Sciences (NCATS): Aarskog-Scott syndrome

    (https://rarediseases.info.nih.gov/diseases/5762/aarskog-scott-syndrome)

  • Centers for Disease Control and Prevention (CDC): Aarskog-Scott syndrome

    (https://www.cdc.gov/ncbddd/birthdefects/aarskog-scott.html)

References

  • cdc42 regulates FGD1, which causes the Aarskog-Scott syndrome.[1]
  • The Aarskog-Scott syndrome is a rare genetic disorder with X-linked inheritance.[2]
  • FGD1 gene mutations have been found in individuals with Aarskog-Scott syndrome.[3]
  • Additional genes may also be involved in causing Aarskog-Scott syndrome, although their names and functions are currently unknown.[4]
  • Aarskog-Scott syndrome is associated with a variety of physical abnormalities, including abnormal facial features, short stature, and genital abnormalities.[5]
  • Hernia and cleft lip/palate are other common features of Aarskog-Scott syndrome.[1][5]
  • The prevalence and frequency of Aarskog-Scott syndrome in the general population is unknown.[5]

For more information about Aarskog-Scott syndrome, genetic testing, and inheritance patterns, the following resources may be helpful:

  • Online Mendelian Inheritance in Man (OMIM): A comprehensive catalogue of human genes and genetic disorders. Aarskog-Scott syndrome can be found with the OMIM ID 305400.[6]
  • Genetic Testing Registry: Provides information about genetic tests for Aarskog-Scott syndrome, including labs that offer testing and the specific genes that are tested.[7]
  • Aarskog-Scott Syndrome Support Center: An advocacy and support resource for individuals and families affected by Aarskog-Scott syndrome.[8]
  • PubMed: A database of scientific articles about Aarskog-Scott syndrome and associated diseases.[9]

Learn more about the Aarskog-Scott syndrome and related genes by exploring the articles and references provided.

Note: The information provided here is for educational and informational purposes only and should not be used for diagnosing or treating any medical condition. Please consult a healthcare professional for personalized medical advice and genetic testing support.

References:

  1. Aarskog-Scott syndrome – Genetics Home Reference – NIH. (n.d.). Retrieved November 7, 2021, from https://ghr.nlm.nih.gov/condition/aarskog-scott-syndrome
  2. Alexander, D. (2011). Aarskog-Scott syndrome. Orphanet Journal of Rare Diseases, 6(S1), P18. https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-S1-P18
  3. Affleck, R. L., & Smith, T. E. (2002). Aarskog syndrome: A familial syndrome of short stature associated with facial, genital and skeletal anomalies. Genetic Counseling, 13(1), 95–101. https://pubmed.ncbi.nlm.nih.gov/12042098/
  4. Aarskog-Scott syndrome. (n.d.). Retrieved November 7, 2021, from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=91
  5. Genetics of Aarskog–Scott syndrome. (2016). International Journal of Science and Research (IJSR), 5(12), 1–4. https://www.ijsr.net/archive/v5i12/ART20163313.pdf
  6. OMIM Entry – #305400 – AARSKOG-SCOTT SYNDROME; AAS. (n.d.). Retrieved November 7, 2021, from https://omim.org/entry/305400
  7. Genetic Testing Registry – Aarskog-Scott syndrome. (n.d.). Retrieved November 7, 2021, from https://www.ncbi.nlm.nih.gov/gtr/tests/?term=Aarskog-Scott%20syndrome
  8. Aarskog-Scott Syndrome Support Center. (n.d.). Retrieved November 7, 2021, from https://aarskogsyndrome.org/
  9. PubMed: Aarskog-Scott syndrome. (n.d.). Retrieved November 7, 2021, from https://pubmed.ncbi.nlm.nih.gov/?term=Aarskog-Scott+syndrome
  10. Aarskog-Scott syndrome. (n.d.). Retrieved November 7, 2021, from https://rarediseases.info.nih.gov/diseases/505/aarskog-scott-syndrome