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Introduction

This study aims to systematically determine the causes of death in individuals with SLOS by collecting detailed information from families of deceased individuals and reviewing available medical records.

There are anecdotal reports of individuals with Smith-Lemli-Opitz Syndrome (SLOS) who have died suddenly, even after mild illnesses like common colds or respiratory infections. In our recent study of 107 individuals with SLOS, nearly 16% had passed away, with an average age of 13.35 ± 9.94 years old (Selvaraman et al., 2025). The causes of death remain poorly characterized, as we were unable to determine specific causes from death certificates.

We are collaborating with the SLO Foundation, which maintains records of affected individuals, to identify families who have lost a family member to SLOS. The foundation will distribute an NIH-developed survey designed to ascertain disease severity, medical history, and circumstances and causes of death to be filled by caregivers of the deceased individuals. We are also seeking to obtain medical records of the deceased individuals.

To get started:

  • Navigate through the menu to learn more about the study.
  • Log in to the application and fill out questionnaires.

Please contact us if you have any questions or concerns.