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Smith-Lemli-Opitz syndrome

The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.

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Disease Overview

Smith-Lemli-Opitz syndrome (SLOS) is characterized by multiple congenital anomalies, intellectual deficit, and behavioral problems.

Synonyms

  • 7-dehydrocholesterol reductase deficiency
  • RSH syndrome
  • Rutledge lethal multiple congenital anomaly syndrome
  • SLO syndrome
  • SLOS
  • Smith Lemli Opitz syndrome
  • Smith-Lemli-Opitz syndrome
  • Smith-Opitz-inborn syndrome
  • lethal acrodysgenital syndrome
  • polydactyly, sex reversal, renal hypoplasia, and unilobar lung
  • polydactyly, sex reversal, renal hypoplasia, and unilobular lung7-dehydrocholesterol reductase deficiency
  • RSH syndrome
  • Rutledge lethal multiple congenital anomaly syndrome
  • SLO syndrome
  • SLOS
  • Smith Lemli Opitz syndrome
  • Smith-Lemli-Opitz syndrome
  • Smith-Opitz-inborn syndrome
  • lethal acrodysgenital syndrome
  • polydactyly, sex reversal, renal hypoplasia, and unilobar lung
  • polydactyly, sex reversal, renal hypoplasia, and unilobular lung
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