Sotos Syndrome
Support, Information, and Community for People Affected by Sotos Syndrome
Sotos syndrome is a rare genetic condition that can significantly impact a child’s development and growth. In partnership with the Child Growth Foundation (CGF), the Northern Ireland Rare Disease Partnership (NIRDP) is committed to raising awareness of Sotos syndrome and ensuring that families and individuals in Northern Ireland have access to the right support and information.
What Is Sotos Syndrome?
Sotos syndrome is caused by changes in the NSD1 gene, and typically presents with:
- Rapid growth in infancy and early childhood
- Tall stature compared to peers
- Developmental delays or learning difficulties
- Distinctive facial features such as a broad forehead and pointed chin
- Other possible medical concerns, including seizures, scoliosis, or organ involvement
Each child or adult with Sotos syndrome will experience the condition differently. Early diagnosis and support can make a positive difference.
🔗 Infographic: What is Sotos Syndrome?
About the Child Growth Foundation (CGF)
The CGF is the UK’s leading charity dedicated to supporting individuals and families living with growth conditions, including Sotos syndrome. They aim to:
- Improve the lives of children and adults affected by overgrowth and undergrowth conditions
- Increase awareness to support early diagnosis
- Equip professionals with better tools to understand and manage rare growth conditions
- Fund research into the causes and treatments of these conditions
🔗 Visit the CGF Sotos Syndrome Page
Support for Families and Individuals
Being diagnosed with a rare condition can be overwhelming. The nurse-led Support Line is there to provide guidance, reassurance, and information at every step.
📞 Support Line
Phone: 020 8995 0257
Email: support@childgrowthfoundation.org
More: Visit their Support Line page
It also hosts a closed peer support group on Facebook where families and individuals can connect, share experiences, and find mutual support.
🔗 Join the Sotos Syndrome Facebook Support Group
Resources
The Child Growth Foundation offers a range of comprehensive resources to support understanding and management of Sotos Syndrome. These materials are invaluable for families, educators, and healthcare professionals seeking in-depth information:
- Sotos Syndrome: An Educational Guide
This guide provides practical advice for educators and parents, focusing on the learning needs and challenges faced by children with Sotos Syndrome. childgrowthfoundation.org - Cognition and Behaviour in Sotos Syndrome: A Systematic Review
This systematic review presents a comprehensive analysis of existing research on cognitive and behavioral aspects of Sotos Syndrome, offering insights into its diagnosis and management. childgrowthfoundation.org - Understanding Cognition and Behaviour in Sotos Syndrome
An informative video resource that delves into the cognitive and behavioral characteristics associated with Sotos Syndrome, providing valuable information for caregivers and professionals. childgrowthfoundation.org - 📘 My Sotos Story – A child-friendly storybook to help explain the condition.
🔗 Read My Sotos Story
These resources are accessible through the Child Growth Foundation’s official website, serving as essential tools for those affected by or working with individuals with Sotos Syndrome.
Living with a Rare Condition in Northern Ireland
Being diagnosed with a rare disease like Sotos syndrome can be isolating. At NIRDP, we work to connect individuals, families, and carers with the right support services, advocate for access to care, and raise awareness across health and education systems.
If you or someone you care for is affected by Sotos syndrome, you are not alone.
Together with CGF, we’re here to ensure that every person living with Sotos syndrome in Northern Ireland receives the support, care, and understanding they deserve.
Rare Disease Groups & Organisations
