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Smith-Lemli-Opitz syndrome type 1
Other Names for this Disease
- 7-Dehydrocholesterol reductase deficiency
- RSH syndrome
- SLO syndrome type 1
- SLOS
- Smith Lemli Opitz syndrome type 1
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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]
References
- Smith-Lemli-Opitz syndrome. Genetics Home Reference (GHR). http://www.ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome. Accessed March 13, 2013.
Your Questions Answered
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General Information
- Genetics Home Reference (GHR) contains information on Smith-Lemli-Opitz syndrome type 1. Click on the link to go to GHR and review the information.
- Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Smith-Lemli-Opitz syndrome type 1. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Smith-Lemli-Opitz syndrome type 1. Click on the link to go to OMIM and review these resources.
Insurance Issues
- The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.