Smith-Lemli-Opitz Syndrome

Common Name(s)

Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome is an autosomal recessive multiple congenital malformation and mental retardation syndrome. Although historically a clinical distinction was often made between a classic 'type I' disorder and a more severe 'type II' disorder, in reality the syndrome constitutes a clinical and biochemical continuum from mild to severe ({80:Opitz et al., 1987}; {18:Cunniff et al., 1997}; {53:Kelley, 1998}). The discovery of the deficiency of 7-dehydrocholesterol reductase as a causative factor of the SLO syndrome ({99:Tint et al., 1994}) made this syndrome the first true metabolic syndrome of multiple congenital malformations. A multidisciplinary National Institute of Child Health and Human Development (NICHD) conference of the SLO syndrome reviewed different implications of this discovery and proposed further studies in this field. A detailed report on this conference and abstracts of presentations were provided by {79:Opitz and de la Cruz (1994)}. Observations presented at an NICHD RSH/SLOS conference in September 1995 were reviewed by {52:Kelley (1997)}. {53:Kelley (1998)} referred to SLOS as a metabolic malformation syndrome, but suggested that this may be an exception. Most mutations that had been related to multiple congenital malformation syndromes, i.e., disturbances of the body plan, have not been disorders of intermediary metabolism but, instead, mutations of homeobox genes and other transcriptional regulators and signaling systems. {80:Opitz et al. (1987)} gave a presumedly complete bibliography of the SLO syndrome, which was updated by {81:Opitz et al. (1994)} and included almost 200 references. They concluded that lumping SLO syndrome with the Pallister-Hall hamartoblastoma syndrome (PHS1; {146510}) is not justified. In a given severe case, differentiation from the Meckel syndrome ({249000}) may be a challenge. {36:Herman (2003)} reviewed the cholesterol biosynthetic pathway and the 6 disorders involving enzyme defects in post-squalene cholesterol biosynthesis: SLOS, desmosterolosis ({602398}), X-linked dominant chondrodysplasia punctata (CDPX2; {302960}), CHILD syndrome ({308050}), lathosterolosis ({607330}), and hydrops-ectopic calcification-moth-eaten skeletal dysplasia (HEM; {215140}).
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Smith-Lemli-Opitz Syndrome" for support, advocacy or research.

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Smith-Lemli-Opitz Foundation|RSH

The Smith-Lemli-Opitz/RSH Foundation is a non-profit organization dedicated to supporting families, individuals and professionals dealing with Smith-Lemli-Opitz syndrome. By providing a network of ongoing communication, funding related research, and raising awareness, we are committed to enhancing the quality of life of affected individuals while improving on current treatment methods and striving towards a cure.

Last Updated: 20 Nov 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Smith-Lemli-Opitz Syndrome" for support, advocacy or research.

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Smith-Lemli-Opitz Foundation|RSH

The Smith-Lemli-Opitz/RSH Foundation is a non-profit organization dedicated to supporting families, individuals and professionals dealing with Smith-Lemli-Opitz syndrome. By providing a network of ongoing communication, funding related research, and raising awareness, we are committed to enhancing the quality of life of affected individuals while improving on current treatment methods and striving towards a cure.

http://www.smithlemliopitz.org

Last Updated: 20 Nov 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Smith-Lemli-Opitz Syndrome" returned 73 free, full-text research articles on human participants. First 3 results:

Smith-Lemli-Opitz syndrome - clinical consequences for dental care.
 

Author(s): Artur Matthews-Brzozowski, Dorota Cudziło, Przemysław Kopczyński, Maja Matthews-Kozanecka, Błażej Rubiś

Journal: Med Wieku Rozwoj. ;17(3):253-6.

 

The Smith-Lemli-Opitz syndrome (SLOS) is a congenital, genetically conditioned, metabolic disorder with autosomal recessive inheritance. The syndrome is caused by high levels of cholesterol precursors, i.e. 7-dyhdrocholesterol (DHCR7) and 8-dehydrocholesterol (DHCR8), which results ...

Last Updated: 3 Dec 2013

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Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndrome.
 

Author(s): Ryan W Y Lee, Shoko Yoshida, Eun Sol Jung, Susumu Mori, Eva H Baker, Forbes D Porter

Journal: Pediatr. Neurol.. 2013 Aug;49(2):107-12.

 

Smith-Lemli-Opitz syndrome (SLOS) is a multiple malformation, neurodevelopmental disorder of cholesterol metabolism caused by mutations in 7-dehydrocholesterol reductase. Corpus callosum (CC) malformations and developmental delay are common, but the relation between the two has not ...

Last Updated: 17 Jul 2013

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Probing lipid-protein adduction with alkynyl surrogates: application to Smith-Lemli-Opitz syndrome.
 

Author(s): Katherine Windsor, Thiago C Genaro-Mattos, Hye-Young H Kim, Wei Liu, Keri A Tallman, Sayuri Miyamoto, Zeljka Korade, Ned A Porter

Journal: J. Lipid Res.. 2013 Oct;54(10):2842-50.

 

Lipid modifications aid in regulating (and misregulating) protein function and localization. However, efficient methods to screen for a lipid's ability to modify proteins are not readily available. We present a strategy to identify protein-reactive lipids and apply it to a neurodevelopmental ...

Last Updated: 12 Sep 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Smith-Lemli-Opitz Syndrome" returned 13 free, full-text review articles on human participants. First 3 results:

Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
 

Author(s): Melissa D Svoboda, Jill M Christie, Yasemen Eroglu, Kurt A Freeman, Robert D Steiner

Journal: Am J Med Genet C Semin Med Genet. 2012 Nov;160C(4):285-94.

 

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol ...

Last Updated: 23 Oct 2012

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Smith-Lemli-Opitz syndrome.
 

Author(s): Andrea E DeBarber, Yasemen Eroglu, Louise S Merkens, Anuradha S Pappu, Robert D Steiner

Journal:

 

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive, multiple congenital malformation and intellectual disability syndrome, with clinical characteristics that encompass a wide spectrum and great variability. Elucidation of the biochemical and genetic basis for SLOS, specifically ...

Last Updated: 22 Jul 2011

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Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
 

Author(s): David D Weaver, Benjamin D Solomon, Kelly Akin-Samson, Richard I Kelley, Maximilian Muenke

Journal: Am J Med Genet C Semin Med Genet. 2010 Feb;154C(1):142-5.

 

Here we present a 24-week fetus with Smith-Lemli-Opitz syndrome (SLOS), alobar holoprosencephaly (HPE) and cyclopia (synophthalmia). Following birth, we suspected SLOS in this fetus due to the additional findings of ambiguous genitalia and bilateral 2-3 toe syndactyly. The diagnosis ...

Last Updated: 1 Feb 2010

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Study of Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Abnormalities; Inborn Errors of Metabolism; Mental Retardation; Muscle Hypotonia; Smith Lemli Opitz Syndrome

 

Last Updated: 20 Aug 2014

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Phase II Study of Dietary Cholesterol for Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 23 Jun 2005

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Sterol and Isoprenoid Disease Research Consortium: Smith-Lemli-Opitz Syndrome
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome

 

Last Updated: 18 Sep 2012

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