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Genetic and Rare Diseases Information Center (GARD)

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Smith-Lemli-Opitz syndrome type 2


Other Names for this Disease
  • Lethal acrodysgenital syndrome
  • Polydactyly, sex reversal, renal hypoplasia, and unilo bular lung
  • Rutledge Friedman Harrod syndrome
  • Rutledge lethal multiple congenital anomaly syndrome
  • SLO syndrome type 2
More Names
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Overview


Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Malformations of the heart, lungs, kidneys, gastrointestinal tract, and genitalia may also occur. Smith-Lemli-Opitz syndrome is caused by mutations in the DHCR7 gene. It is inherited in an autosomal recessive pattern.[1]
Last updated: 3/13/2013

References

  1. Smith-Lemli-Opitz syndrome. Genetics Home Reference (GHR). 2007; http://www.ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome. Accessed 3/13/2013.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Smith-Lemli-Opitz syndrome type 2. Click on the link to view a sample search on this topic.

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