Below is a summary for 5q35 deletion syndrome or Sotos syndrome observed in research publications. This is not meant to take the place of medical advice.
What is 5q35 deletion syndrome or Sotos syndrome?
5q35 deletion syndrome happens when a person is missing a piece of chromosome 5, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes. The missing piece can affect learning and how the body develops.
5q35 deletion syndrome is also called Sotos syndrome. This condition is caused by a deletion in the NSD1 gene, which is missing when a person has a 5q35 deletion.
Because the 5q35 region is important for the proper function of the body’s cells, some people may have:
- Ear infections and hearing loss
- Heart structure issues
- Joint issues
- Developmental delay
- Intellectual disability
- Language delay
- Coordination problems
- Behavior issues
- Kidney tumor, called a Wilms tumor
- Advanced bone age
Do people who have 5q35 deletion syndrome look different?
People with 5q35 deletion syndrome may look different. Appearance can vary and can include some but not all of these features:
- Larger than average head size
- Early appearance of teeth
- Rapid eye movements
- Brittle fingernails
- Red cheeks, also called malar flushing
- Noticeable forehead
- Long narrow face and chin
- Thinning hair in the front
How many people have Sotos syndrome?
As of 2022, at least 280 people with Sotos syndrome have been described in the medical research. Sotos syndrome happens in about 1 in every 14,000 births.
Research Article Summaries