International SGS Awareness Day is observed annually on November 13.

First observed in 2020 by the Schinzel-Giedion Syndrome Foundation, the day raises awareness of Schinzel-Giedion syndrome, an extremely rare genetic disorder linked to SETBP1 gene mutations.

It supports affected children and families, encourages medical research, and promotes better understanding, care, and treatment opportunities.

International SGS Awareness Day – History, Origin, Objectives and Significance

International SGS Awareness Day is observed annually on November 13 to raise awareness of Schinzel-Giedion syndrome (SGS), an extremely rare genetic disorder affecting multiple body systems.

First observed on November 13, 2020, the awareness day was established by the Schinzel-Giedion Syndrome Foundation, a UK-based charitable organization founded in 2019.

The observance promotes public understanding of SGS, supports affected children and their families, encourages medical research, and advocates for better diagnosis, treatment, and quality of life.

History and Origin of International SGS Awareness Day

The history of International SGS Awareness Day is closely connected with the establishment of the Schinzel-Giedion Syndrome Foundation.

The foundation was registered as a charitable organization in the United Kingdom on November 13, 2019.

It was established by families affected by Schinzel-Giedion syndrome to provide support, improve medical understanding, and encourage research into this extremely rare genetic condition.

On November 13, 2020, the foundation organized the first International SGS Awareness Day to commemorate its first anniversary and promote worldwide awareness of the syndrome.

The inaugural campaign included 13 days of educational activities beginning on November 1, 2020.

Families shared photographs, personal experiences, and medical information through social media to increase public understanding of SGS.

Purple clothing, photographs, and other purple-themed activities were prominent features of the first awareness campaign.

Since its establishment, International SGS Awareness Day has served as an opportunity for families, healthcare professionals, researchers, and supporters to highlight the challenges associated with the condition.

Who Founded International SGS Awareness Day?

International SGS Awareness Day was founded by the Schinzel-Giedion Syndrome Foundation in 2020.

The foundation was established in the United Kingdom in 2019, with Nuala Summerfield identified as its founder and chair.

The organization brings together parents, medical specialists, researchers, and supporters working to improve the lives of children affected by Schinzel-Giedion syndrome.

Its principal objectives include family support, medical awareness, and funding research into better treatments.

What Is Schinzel-Giedion Syndrome?

Schinzel-Giedion syndrome (SGS) is an extremely rare genetic developmental disorder affecting multiple organs and body systems.

It is associated with pathogenic variants in the SETBP1 gene, located on chromosome 18.

The disorder can affect brain development, neurological function, physical growth, and the development of organs such as the heart and kidneys.

SGS commonly involves significant developmental challenges and complex medical needs.

The condition usually results from a newly occurring genetic variant rather than one inherited from a parent, although rare familial recurrence has been documented.

Discovery and Medical History of Schinzel-Giedion Syndrome

Schinzel-Giedion syndrome was first described in 1978 by Swiss medical geneticist Albert Schinzel and radiologist Andreas Giedion.

Their research described a group of congenital abnormalities involving facial development, skeletal structures, the heart, and the kidneys.

The condition was subsequently named Schinzel-Giedion syndrome in recognition of their work.

A major scientific breakthrough occurred in 2010 when researchers identified pathogenic variants in the SETBP1 gene as the genetic cause of the disorder.

This discovery improved understanding of the condition and provided an important foundation for molecular diagnosis and further research.

Symptoms and Characteristics of Schinzel-Giedion Syndrome

The symptoms of Schinzel-Giedion syndrome vary among affected individuals.

Common clinical characteristics may include:

• Severe developmental delay.
• Epilepsy and recurrent seizures.
• Feeding and swallowing difficulties.
• Reduced muscle tone (hypotonia).
• Hearing or visual impairment.
• Distinctive facial features.
• Kidney and urinary tract abnormalities.
• Congenital heart abnormalities.
• Skeletal development differences.
• Respiratory and gastrointestinal complications.

Classic SGS is generally associated with significant medical complications, while atypical SGS can present with a different range and severity of symptoms.

Objectives of International SGS Awareness Day

The primary objectives of International SGS Awareness Day are to:

1. Raise global awareness of Schinzel-Giedion syndrome.
2. Educate communities about rare genetic disorders.
3. Support children and families affected by SGS.
4. Encourage earlier recognition and accurate diagnosis.
5. Promote scientific and medical research into the condition.
6. Support the development of more effective treatments.
7. Encourage cooperation among healthcare professionals, researchers, and patient organizations.
8. Improve access to reliable medical information and supportive care.

Diagnosis and Treatment of Schinzel-Giedion Syndrome

Schinzel-Giedion syndrome may be suspected through clinical assessment of characteristic developmental and physical findings.

Molecular genetic testing can identify disease-causing variants in the SETBP1 gene and help confirm the diagnosis.

There is currently no cure for Schinzel-Giedion syndrome.

Medical management focuses on treating symptoms, reducing complications, and improving quality of life.

Depending on individual needs, supportive care may include:

• Neurological evaluation and seizure management.
• Nutritional and feeding support.
• Physical, occupational, and communication therapies.
• Respiratory care.
• Monitoring of heart and kidney abnormalities.
• Developmental support.
• Coordinated multidisciplinary healthcare.

Medical care requires individualized assessment because symptoms and severity differ between affected individuals.

How Is International SGS Awareness Day Observed?

International SGS Awareness Day is observed through awareness campaigns, family participation, educational activities, and fundraising initiatives.

Common activities include:

• Sharing information about Schinzel-Giedion syndrome.
• Wearing purple to demonstrate support.
• Publishing stories of children and families affected by SGS.
• Organizing online awareness campaigns.
• Supporting scientific research and charitable fundraising.
• Encouraging collaboration among families and healthcare professionals.
• Sharing educational resources about rare genetic disorders.

The observance also helps affected families connect with wider support networks.

Significance of International SGS Awareness Day

International SGS Awareness Day highlights the challenges faced by people living with extremely rare genetic conditions.

Because SGS is uncommon, families may encounter difficulties obtaining a diagnosis, accessing specialized medical care, and finding appropriate support.

The observance encourages greater public understanding and brings attention to the need for continued scientific research.

It also recognizes the contributions of affected families, healthcare professionals, researchers, and charitable organizations working to improve care.

By increasing visibility and encouraging international cooperation, the observance helps strengthen the global rare-disease community.

Conclusion

International SGS Awareness Day, observed annually on November 13, promotes awareness of Schinzel-Giedion syndrome and the challenges faced by affected families.

Established by the Schinzel-Giedion Syndrome Foundation in 2020, the observance emphasizes medical research, family support, better diagnosis, and improved care.

It reinforces the importance of international cooperation and continued scientific progress in addressing extremely rare genetic disorders.

References

1. Schinzel-Giedion Syndrome Foundation – First International SGS Awareness Day (November 13, 2020)
   https://sgsfoundation.org/international-sgs-awareness-day/
2. Schinzel-Giedion Syndrome Foundation – Official Website
   https://sgsfoundation.org/
3. Schinzel-Giedion Syndrome Foundation – About Schinzel-Giedion Syndrome
   https://sgsfoundation.org/about-sgs/
4. NIH MedlinePlus Genetics – Schinzel-Giedion Syndrome
   https://medlineplus.gov/genetics/condition/schinzel-giedion-syndrome/
5. NCBI GeneReviews – Schinzel-Giedion Syndrome
   https://www.ncbi.nlm.nih.gov/books/NBK601394/
6. Hoischen et al. (2010) – De Novo Mutations of SETBP1 Cause Schinzel-Giedion Syndrome
   https://pubmed.ncbi.nlm.nih.gov/20436468/
7. Schinzel-Giedion Syndrome Foundation – Standard of Care Guidelines
   https://sgsfoundation.org/standard-of-care/
8. Schinzel-Giedion Syndrome Foundation – Research Grant Announcement (2021)
   https://sgsfoundation.org/schinzel-giedion-syndrome-receives-research-grant/

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