Searching for Smith Lemli Opitz Sydrome Support Agencies information? Find all needed info by using official links provided below.
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.
https://www.smithlemliopitz.org/
Families and friends of individuals with Smith-Lemli-Opitz Syndrome will gather for the SLO Family Medical Conference June 27 – 29, 2019. About the Foundation: Smith-Lemli-Opitz RSH Foundation is a non-profit organization dedicated to supporting families, individuals and professionals dealing with Smith-Lemli-Opitz syndrome.
https://rarediseases.info.nih.gov/diseases/5683/smith-lemli-opitz-syndrome
158 rows · Mar 13, 2013 · Smith-Lemli-Opitz syndrome is a developmental disorder characterized by …
https://emedicine.medscape.com/article/949125-treatment
Aug 09, 2019 · Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomalies (MCA)/mental retardation (MR) syndrome caused by a defect in cholesterol synthesis. Smith-Lemli-Opitz syndrome is an autosomal recessive genetic condition caused by deficiency of the enzyme 3 beta-hydroxysterol-delta 7-reductase (7-dehydrocholesterol-delta 7-reductase [DHCR7...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3491301/
Smith-Lemli-Opitz syndrome is an autosomal recessively inherited disorder. A severe defect in cholesterol biosynthesis has been identified leading to abnormally low plasma cholesterol levels and elevated levels of the cholesterol precursor 7-dehydrocholesterol, the result of deficiency of 7-dehydrocholesterol reductase.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3366105/
Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital malformation syndrome that was first described by Smith, Lemli and Opitz in 1964 ().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.
https://jmg.bmj.com/content/37/5/321
May 01, 2000 · History. The Smith-Lemli-Opitz syndrome was first described in 1964 by the late David Smith, the Belgian paediatrician Luc Lemli, and John Opitz1 in a report of three patients who had in common a distinctive facial appearance, microcephaly, broad alveolar ridges, hypospadias, a characteristic dermatoglyphic pattern, severe feeding disorder, and global developmental delay.Cited by: 466
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