Which clinical history findings are characteristic 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:

  • 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. The aberrant behavior of the older child can include antisocial, self-destructive, and violent acts or withdrawal, self-stimulation, and frank autism. Indeed, autism is quite common in Smith-Lemli-Opitz syndrome (SLOS). [22]

The risk for neuropsychiatric disorders also appears to be increased in adults with Smith-Lemli-Opitz syndrome.

A study by Eroglu et al indicated that it is possible for persons with Smith-Lemli-Opitz syndrome to have a normal intelligence quotient (IQ). The investigators found that out of 145 children with the syndrome, nine of them (six girls and three boys) had a normal or low-normal IQ. [23]


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