What is the prognosis of Smith-Lemli-Opitz syndrome (SLOS)?

Updated: Jan 27, 2021
  • Author: Robert D Steiner, MD; Chief Editor: Luis O Rohena, MD, MS, FAAP, FACMG  more...
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Survival is less likely when the plasma cholesterol level is less than approximately 20 mg/dL as measured by gas chromatography.

Some individuals with Smith-Lemli-Opitz syndrome live into adulthood.

Long-term survival may be more common in the era of cholesterol supplementation. Pauli et al reported a 30-year follow-up of 1 of the 3 original patients described by Smith et al and described the following: [36]

  • Phenotypic manifestation persisted, although the patient's general health had been excellent.

  • He has severe intellectual disability (ID) and expresses violent behavioral outbursts.

  • He is medicated for a seizure disorder and behavior control.

  • His diet analysis showed poor cholesterol intake, which was increased dramatically because of possible benefit of dietary cholesterol supplementation.

  • Two months following initiation of this diet, caregivers described him as calmer, happier, and more verbal.

  • Repeat assessment of plasma cholesterol levels did not demonstrate impressive improvement.

  • Although published data concerning long-term prognosis of patients with Smith-Lemli-Opitz syndrome is scarce, this case report is illustrative.

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