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SLOSDeficiencyBiochemicalMetabolismPhenotypeAutosomal recessive syndromeClinicalCongenital anomaliesGeneInbornTrisomy 13GeneticDevelopmental DelayMalformationMeSHFetalRevealsPlasma cholesterolBehavioralFindingsProvenPatientsCorneliaMultipleDysplasiaPeopleMental retardationChildPatientLevelsStudyGroup

SLOS8

• Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital anomaly (MCA)/ intellectual disability (ID) syndrome caused by a defect in cholesterol synthesis. (medscape.com)
• Smith-Lemli-Opitz syndrome (SLOS) or RSH syndrome comprises multiple congenital anomalies and mental retardation. (scielo.br)
• Smith-Lemli-Opitz (SLOS) or RSH syndrome (MIM 270400) comprises multiple congenital anomalies, mental retardation and an autosomal recessive inborn error of cholesterol metabolism. (scielo.br)
• PURPOSE: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome characterized by congenital anomalies affecting the airway, cardiorespiratory, gastrointestinal, genitourinary, and central nervous systems. (mcmaster.ca)
• Smith Lemli Opitz Syndrome (SLOS) is an autosomal recessive cholesterol biosynthesis defect which is characterized by both multiple kongenital anomaly and mental retardation. (lokmanhekim.edu.tr)
• Through medical conferences, doctors referred Aryanna to the National Institutes of Health (NIH) to determine if Aryanna might have a rare metabolic disorder called Smith-Lemli-Opitz Syndrome (SLOS). (childrensinn.org)
• Smith-Lemli-Opitz syndrome (SLOS) is a rare variable genetic disorder that is characterized by slow growth before and after birth, small head (microcephaly), mild to moderate intellectual disability and multiple birth defects. (vumc.org)
• According to several medical resources, Smith-Lemli-Opitz Syndrome (SLOS) is congenital and caused by mutation, e.g. (stackexchange.com)

Deficiency4

• In the case of Smith-Lemli-Opitz syndrome, the precursor 7DHC is potentially toxic in high concentrations, and cholesterol deficiency is almost certainly detrimental. (medscape.com)
• [ 6 ] A deficiency of the microsomal enzyme DHCR7, which reduces the 7-8 double bond of 7DHC to form cholesterol in the final step of the cholesterol synthetic pathway, was hypothesized and later proven to cause Smith-Lemli-Opitz syndrome. (medscape.com)
• This syndrome is characterized by multiple CONGENITAL ABNORMALITIES, growth deficiency, and INTELLECTUAL DISABILITY. (rush.edu)
• RSH/Smith-Lemli-Opitz (RSH/SLO) syndrome is an autosomal recessive malformation syndrome recently shown to be associated with a severe deficiency of cholesterol biosynthesis and markedly elevated plasma and tissue levels of 7-dehydrocholesterol (7DHC), the immediate precursor of cholesterol in the Kandutsch-Russell biosynthetic pathway. (johnshopkins.edu)

Biochemical4

• Smith-Lemli-Opitz syndrome is usually suspected clinically, but the diagnosis must be confirmed by biochemical and/or molecular genetic studies. (medscape.com)
• Postnatally, the syndrome is usually suspected clinically, but biochemical and/or genetic testing is necessary for diagnosis. (medscape.com)
• Measurement of plasma sterols, including, at a minimum, cholesterol and 7DHC, is the biochemical test for Smith-Lemli-Opitz syndrome. (medscape.com)
• Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. (bmj.com)

Metabolism2

• Smith-Lemli-Opitz syndrome, cholesterol metabolism, 7-dehydrocholesterol. (scielo.br)
• The role of vitamin D metabolism gene polymorphisms (vitDMGPs) in various health conditions, including Smith-Lemli-Opitz syndrome, is critical, according to a comprehensive bibliometric study. (medjournal360.com)

Phenotype2

• Smith-Lemli-Opitz syndrome: phenotype, natural history, and epidemiology. (harvard.edu)
• Most of these genes are also responsible for Joubert syndrome, leading to the concept that MKS is the extreme lethal phenotype of Joubert syndrome. (orpha.net)

Autosomal recessive syndrome1

• We report here the identification of mutations in sterol-C4-methyl oxidase-like gene (SC4MOL) as the cause of an autosomal recessive syndrome in a human patient with psoriasiform dermatitis, arthralgias, congenital cataracts, microcephaly, and developmental delay. (jci.org)

Clinical4

• [ 5 ] The clinical characteristics of Smith-Lemli-Opitz syndrome have been well established over the past 4 decades. (medscape.com)
• As demonstrated in other clinical syndromes when redefined biochemically, we have found a wider range of clinical expression of RSH/SLO than previously recognized. (johnshopkins.edu)
• 1%) of individuals with clinical findings of the 22q11.2 deletion syndrome have chromosomal rearrangements involving 22q11.2, such as a translocation between chromosome 22 and another chromosome. (22q.org)
• Clinical and genetic analysis of a Chinese pedigree affected with Smith-Lemli-Opitz syndrome]. (nih.gov)

Congenital anomalies1

• D. W. Smith, L. Lemli and J. M. Opitz, "A Newly Recognized Syndrome of Multiple Congenital Anomalies," The Journal of Pediatrics, Vol. 64, 1964, pp. 210-217. (scirp.org)

Gene3

• It is an autosomal recessive, multiple malformation syndrome caused by a mutation in the enzyme 7-Dehydrocholesterol reductase encoded by the DHCR7 gene. (wikipedia.org)
• As a postdoctoral research associate at Brown University, Dr. Csoka was instrumental in the identification of the gene that causes Hutchinson-Gilford Progeria Syndrome (progeria), a disease with many features of "accelerated aging. (howard.edu)
• These individuals may have a change in a gene within the regions, such as TBX1, or a different condition such as CHARGE syndrome. (22q.org)

Inborn1

• Smith-Lemli-Opitz syndrome is an inborn error of cholesterol synthesis. (wikipedia.org)

Trisomy 131

• Differential diagnoses include trisomy 13, Bardet-Biedl syndrome, Hydrolethalus, and Smith-Lemli-Opitz Syndrome. (orpha.net)

Genetic2

• Smith, Lemli, and Opitz initially described Smith-Lemli-Opitz syndrome (while working at the University of Wisconsin) as a genetic MCA/ID syndrome, in 1964. (medscape.com)
• His work in that section has focused on understanding two rare genetic disorders involving cholesterol, Smith-Lemli-Opitz syndrome and Niemann-Pick disease type C. Smith-Lemli-Opitz syndrome results from a defect in the ability to manufacture cholesterol. (nih.gov)

Developmental Delay1

• Defects in cholesterol synthesis result in a wide variety of symptoms, from neonatal lethality to the relatively mild dysmorphic features and developmental delay found in individuals with Smith-Lemli-Opitz syndrome. (jci.org)

Malformation1

• CHARGE is a congenital disorder and an acronym for the constellation of medical problems that define this syndrome: coloboma of the eye, heart defects, atresia of the choanae, retardation of growth or development, genital hypoplasia, and ear malformation. (abainternational.org)

MeSH1

• Smith-Lemli-Opitz Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)

Fetal1

• Fetal ultrasonography may reveal anomalies suggestive of Smith-Lemli-Opitz syndrome. (medscape.com)

Reveals1

• Modeling Smith-Lemli-Opitz syndrome with induced pluripotent stem cells reveals a causal role for Wnt/ß-catenin defects in neuronal cholesterol synthesis phenotypes. (harvard.edu)

Plasma cholesterol1

• The etiology of Smith-Lemli-Opitz syndrome was unknown until 1993, when Irons et al discovered that patients with Smith-Lemli-Opitz syndrome had low plasma cholesterol levels and accumulated sterol precursors such as 7DHC. (medscape.com)

Behavioral1

• The number of children diagnosed with CHARGE Syndrome is increasing, and several studies have reported that children with CHARGE syndrome exhibit multiple behavioral problems (e.g., repetitive behaviors, non-compliance, and social skills deficits) and educational problems. (abainternational.org)

Findings1

• A few individuals with findings of the 22q11.2 deletion syndrome have normal routine cytogenetic studies and no deletion by FISH, MLPA, CGH or microarray. (22q.org)

Proven2

• Currently, no treatment has proven effective long-term for patients with the syndrome. (medscape.com)
• As mentioned, no treatment has so far proven effective long-term for patients with Smith-Lemli-Opitz syndrome. (medscape.com)

Patients1

• The Special Care Clinic is home to a multidisciplinary team that focuses on providing care to patients with Ehlers-Danlos syndrome (EDS) . (childrenscolorado.org)

Cornelia1

• The third presenter will describe the treatment of severe aggression associated with Cornelia de Lange syndrome. (abainternational.org)

Multiple1

• The most severely affected individuals (those with the condition formerly referred to as Smith-Lemli-Opitz syndrome type II) have multiple congenital malformations and are often miscarried or stillborn or die in the first weeks of life. (medscape.com)

Dysplasia1

• Large polycystic kidneys with cystic dysplasia are a constant feature of Meckel syndrome. (orpha.net)

People2

• This graph shows the total number of publications written about "Smith-Lemli-Opitz Syndrome" by people in this website by year, and whether "Smith-Lemli-Opitz Syndrome" was a major or minor topic of these publications. (rush.edu)
• Below are the most recent publications written about "Smith-Lemli-Opitz Syndrome" by people in Profiles. (rush.edu)

Mental retardation1

• Another reason for children having an upturned nose, based on a medical condition is the Kaufman oculocerebrofacial syndrome which affects their facial features, mental retardation, and eye abnormalities amongst other aspects. (simplyaesthetic.co.uk)

Child2

• Child with Smith-Lemli-Opitz syndrome. (medscape.com)
• The next presenter will describe the treatment of severe problem behavior in a child with CHARGE syndrome. (abainternational.org)

Patient1

• A Smith Lemli Opitz syndrome patient dia. (lokmanhekim.edu.tr)

Levels1

• a syndrome that is metabolically characterized by reduced serum cholesterol levels and elevated serum 7-dehydrocholesterol levels and phenotypically characterized by cognitive disability, facial dysmorphism, syndactyly of second and third toes, and holoprosencephaly in severe cases to minimal physical abnormalities and near-normal intelligence in mild cases. (nih.gov)

Study1

• In this study, principles of applied behavior analysis (ABA) were used to decrease self-injurious and disruptive behaviors for a 5-year old boy with CHARGE syndrome. (abainternational.org)

Group1

• The final presentation will summarize the assessment and treatment of self-injury and other problem behaviors in a group of children with Smith-Lemli-Opitz syndrome. (abainternational.org)