What is the global prevalence 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

International

Smith-Lemli-Opitz syndrome has been described in patients from the United States, many northern European countries, Japan, South America, and other countries. Smith-Lemli-Opitz syndrome appears to be uncommon in Japan. The frequency of Smith-Lemli-Opitz syndrome appears to be similar in northern Europe and the United States, but additional studies are needed to determine the frequency of Smith-Lemli-Opitz syndrome in other regions. The European origin of some of the major mutations found in Smith-Lemli-Opitz syndrome has been explored. [14]


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