Smith Lemli Opitz Syndrome Support Agencies

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The Official Smith-Lemli-Opitz RSH Foundation Website

    https://www.smithlemliopitz.org/
    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 com mitted to enhancing the quality of life of affected individuals ...

Smith-Lemli-Opitz Syndrome Nicklaus Children's Hospital

    https://www.nicklauschildrens.org/conditions/opitz-syndrome
    Smith-Lemli-Opitz syndrome is a genetic disorder that presents with slow growth before and after birth and multiple anomalies at birth. We use cookies to personalize content and ads, to provide social media features, and to analyze our traffic.

Smith-Lemli-Opitz syndrome Genetic and Rare Diseases ...

    https://rarediseases.info.nih.gov/diseases/5683/smithlemliopitz-syndrome-type-1
    158 rows · Smith-Lemli-Opitz syndrome is a developmental disorder characterized by distinctive …

Smith-Lemli-Opitz syndrome - Disease Support - find ...

    https://www.diseaseinfosearch.org/disease/6648/support
    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 ...

Smith Lemli Opitz Syndrome: Symptoms, Causes, and Diagnosis

    https://www.verywellhealth.com/smith-lemli-opitz-syndrome-4772315
    Smith Lemli Opitz syndrome is a congenital developmental disorder characterized by distinctive facial features, intellectual and learning disability, behavioral issues, and small head (microcephaly), among other manifestations.Alongside malformations of important organs like the kidneys, heart, genitals, and intestinal tract, children with this condition display characteristics of autism and ...

Smith-Lemli-Opitz syndrome Contact

    https://contact.org.uk/advice-and-support/medical-information/conditions/s/smith-lemli-opitz-syndrome/
    Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive disorder of cholesterol synthesis caused by mutations in 3β-hydroxysterol Δ7-reductase (DHCR7) gene. The estimated incidence of SLOS is between 1 in 20,000 to 1 in 40,000 live births, but may be higher.

SLOS Overview - The Official Smith-Lemli-Opitz

    https://www.smithlemliopitz.org/frequently-asked-questions/slos-overview/
    SLOS Overview Smith-Lemli-Optiz syndrome, in layman’s terms, is the inability to correctly produce or synthesize cholesterol due to a low occurrence of the 7-DHC reductace enzyme. Cholesterol is an essential nutrient for every cell in a person’s body.

Smith-Lemli-Opitz syndrome - Genetics Home Reference - NIH

    https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome
    Oct 29, 2019 · Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems.



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