New study suggests Phelan-McDermid syndrome affects more people than previously thought
Researchers at Mount Sinai released a major analysis on September 25, 2026, indicating that Phelan-McDermid syndrome may be far more common than earlier estimates suggested.
Genetic testing reveals hidden cases
Scientists led by the Seaver Autism Center found that thousands of Americans likely have this condition without a diagnosis. The disorder involves a deletion or mutation of the SHANK3 gene located on chromosome 22. Many individuals meet autism criteria because changes to this specific gene are linked to behavioral challenges.
Updated prevalence numbers emerge
The new data indicates the condition impacts roughly one in every 7,300 people globally. This estimate suggests there could be over 45,000 cases within the United States alone. Earlier figures likely underestimated the population because genetic testing is not always performed.
Treatment trials are underway
Targeted treatments for the disorder are currently moving into clinical trial phases. The findings were published in the journal Autism Research to share these updated statistics. Experts warn that many cases remain undetected due to limited access to specific genetic tests.
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