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  • Smith-lemli-opitz syndrome | About the Disease | GARD
    Smith-Lemli-Opitz syndrome (SLOS) is a rare genetic condition affecting multiple body systems Signs and symptoms may include characteristic facial features, small head size, growth and developmental delays, and intellectual and behavioral problems
  • Smith-Lemli-Opitz syndrome: MedlinePlus Genetics
    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
  • Smith-Lemli-Opitz Syndrome - Symptoms, Causes, Treatment | NORD
    Smith-Lemli-Opitz syndrome (SLOS) is a genetic condition that affects many parts of the body It is an autosomal recessive genetic condition caused by changes in the DHCR7 gene Problems associated with SLOS are usually noticeable before or shortly after birth (congenital)
  • Smith-Lemli-Opitz Syndrome - StatPearls - NCBI Bookshelf
    Smith-Lemli-Opitz syndrome (SLOS) is a rare inherited condition characterized by a defect in cholesterol synthesis, resulting in low plasma cholesterol levels and raised levels of precursor 7-dehydrocholesterol (7-DHC)
  • Living with SLOS - Smith-Lemli-Opitz Foundation
    Although SLOS had been known as a genetic disorder, the cause was not determined until 1993, when scientists and clinicians discovered that children with SLOS are unable to produce sufficient amounts of cholesterol, an essential nutrient for proper growth and development
  • FDNA™ Smith-Lemli-Opitz Syndrome: Symptoms, Causes, and Diagnosis
    Smith-Lemli-Opitz syndrome is a variable genetic disorder characterized by slow growth both before and after birth It is thought to occur in anywhere from 1 in 20-60,000 live births This rare disease is also known as multiple congenital anomaly disorder, presenting with intellectual disability
  • Smith-Lemli-Opitz Syndrome: Causes, Symptoms Treatments
    Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder that affects multiple systems in the body, resulting in a spectrum of physical, developmental, and behavioral abnormalities Understanding SLOS is crucial for early diagnosis, effective treatment, and better management of the condition
  • Smith-Lemli-Opitz Syndrome - Kennedy Krieger Institute
    Smith-Lemli-Optiz Syndrome (SLOS) is a genetic disorder that affects the development of children both before and after birth The syndrome was first described in 1964 in three boys with poor growth, developmental delay and a common pattern of congenital malformations including cleft palate, genital malformations and polydactyly (extra fingers
  • Smith-Lemli-Opitz Syndrome - PMC
    Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation syndrome that was first described by Smith, Lemli and Opitz in 1964 (1) Many hundreds of SLOS cases have been reported since that time, leading to the recognition of SLOS as a relatively commonly cause of malformation syndrome
  • Smith-Lemli-Opitz Syndrome - Nicklaus Childrens Hospital
    SLOS is a genetic condition caused by inheritance of two non-working copies of an autosomal recessive gene (one copy inherited from each parent) that reduces the amount of an important enzyme (7- dehydrocholesterol reductase) preventing normal cholesterol metabolism





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