What are the signs and symptoms 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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Answer

The following signs and symptoms may be noted in Smith-Lemli-Opitz syndrome:

  • Lethargy
  • Obtundation or coma
  • Respiratory failure
  • Hearing loss
  • Visual loss
  • Vomiting
  • Feeding difficulties
  • Failure to thrive
  • Constipation
  • Cyanosis
  • Congestive heart failure
  • Photosensitivity

Neuropsychiatric and neurodevelopmental abnormalities are common and include variable intellectual disability (ID), aberrant behavior, and autism.


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