Smith-Lemli-Opitz syndrome
MONDO:0010035Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.
Also known as: 7-dehydrocholesterol reductase deficiency, RSH syndrome, Rutledge lethal multiple congenital anomaly syndrome, SLO syndrome, SLOS, Smith-Lemli-Opitz syndrome, Smith Lemli Opitz syndrome, lethal acrodysgenital syndrome
6 clinical trials for this condition and its sub-types.
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Rare genetic disorder studied for clues to better care
Knowledge-focused CompletedThis study looked at Smith-Lemli-Opitz syndrome (SLOS), a rare genetic condition that affects cholesterol production and causes birth defects and intellectual disabilities. Researchers enrolled 130 patients and their mothers to learn more about the disease's progression, genetic …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Aug 18, 2026 09:00 UTC
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Light-Based brain cap could replace radiation scans for kids
Knowledge-focused CompletedThis study tested whether two light-based technologies, fNIRS and DCS, can safely measure brain activity in children with rare neurocognitive disorders like Niemann-Pick disease and Smith-Lemli-Opitz syndrome. 73 participants, including healthy volunteers, wore a cap with lights …
Sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:03 UTC