Smith-Lemli-Opitz syndrome

Common Name(s)

Smith-Lemli-Opitz syndrome

Smith-Lemli-Opitz (SLO) syndrome is a genetic disorder that affects a child’s physical and brain (cognitive) development. Infants with SLO syndrome have weak muscles (hypotonia), difficulties with feeding, and slow growth. SLO syndrome can also cause abnormalities (malformations) of the heart, lungs, kidneys, stomach and intestines (GI tract), or genitalia. Other physical features can include fusion between the 2nd and 3rd toes (syndactyly), extra fingers or toes (polydactyly), and a small head (microcephaly). SLO may also cause cognitive issues, including autistic features, learning problems, or behavioral issues.

SLO syndrome is caused by a change (mutation) in a gene called DHCR7. This gene serves as an instruction for the body to make an enzyme, called 7-dehydrocholesterol reductase (7-DHCR), which helps produce a fat-like substance that is important for normal development (cholesterol). When a child has mutations in the DHCR7 gene, they are unable to make enough cholesterol for normal growth and development. SLO syndrome is inherited in an autosomal recessive manner, which means a mutation in both copies of the DHCR7 gene that a child has is needed to cause the condition.

SLO syndrome is suspected when a child has physical features of the condition that are seen on physical exam, along with learning problems or behavioral issues. Diagnosis of the condition is confirmed if a child has a low 7-DHCR enzyme level or if mutations are identified with genetic testing of the DHCR7 gene. There is no cure for this disease. However, providing cholesterol supplement may improve some symptoms. If malformations are severe, surgery may be needed. Therapies can improve development and learning issues. If your child has been diagnosed with SLO syndrome, talk with their doctor to discuss all current treatment recommendations. More information and support are available though support groups.

Source: Advocacy organizations associated with the condition.

 

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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General Support Organizations

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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.

Logo
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 87 free, full-text research articles on human participants. First 3 results:

Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/β-catenin defects in neuronal cholesterol synthesis phenotypes.
 

Author(s): Kevin R Francis, Amy N Ton, Yao Xin, Peter E O'Halloran, Christopher A Wassif, Nasir Malik, Ian M Williams, Celine V Cluzeau, Niraj S Trivedi, William J Pavan, Wonhwa Cho, Heiner Westphal, Forbes D Porter

Journal: Nat. Med.. 2016 Apr;22(4):388-96.

 

Smith-Lemli-Opitz syndrome (SLOS) is a malformation disorder caused by mutations in DHCR7, which impair the reduction of 7-dehydrocholesterol (7DHC) to cholesterol. SLOS results in cognitive impairment, behavioral abnormalities and nervous system defects, though neither affected cell ...

Last Updated: 7 Apr 2016

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The p.Phe174Ser mutation is associated with mild forms of Smith Lemli Opitz Syndrome.
 

Author(s): Arianna Tucci, Luisa Ronzoni, Carlo Arduino, Paola Salmin, Susanna Esposito, Donatella Milani

Journal:

 

Smith Lemli Opitz syndrome (SLOS; OMIM #270400) is an autosomal recessive metabolic disorder caused by mutations in the DHCR7 gene. SLOS is characterized by a plethora of abnormalities involving mainly the brain and the genitalia but also the cardiac, skeletal and gastroenteric system, ...

Last Updated: 12 Mar 2016

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Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.
 

Author(s): Mark J Merkens, Nancy L Sinden, Christine D Brown, Louise S Merkens, Jean-Baptiste Roullet, Thuan Nguyen, Robert D Steiner

Journal: J. Pediatr.. 2014 Oct;165(4):836-41.e1.

 

To quantitatively evaluate feeding impairment in children with Smith-Lemli-Opitz syndrome (SLOS) and to correlate feeding impairment with clinical and biochemical indices of disease severity.

Last Updated: 26 Sep 2014

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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 12 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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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Cholesterol and Antioxidant Treatment in Patients With Smith-Lemli-Opitz Syndrome (SLOS)
 

Status: Recruiting

Condition Summary: Smith-Lemli-Opitz Syndrome; Cone-Rod Dystrophy; Hearing Loss

 

Last Updated: 18 Aug 2016

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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: 13 Sep 2016

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Study of Inborn Errors of Cholesterol Synthesis and Related Disorders
 

Status: Recruiting

Condition Summary: Lipoidosis

 

Last Updated: 1 Dec 2016

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