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Smith-Lemli-Opitz Syndrome (SLOS)

Smith-Lemli-Opitz Syndrome (SLOS). Suraj Gathani. Description and Occurrence. Autosomal recessive disorder Cholesterol metabolism effected. Common characteristics: Multiple malformations at birth. Mental retardation later. Occurrence: 1 in 20,000 people of central European decedents.

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Smith-Lemli-Opitz Syndrome (SLOS)

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  1. Smith-Lemli-Opitz Syndrome (SLOS) Suraj Gathani

  2. Description and Occurrence • Autosomal recessive disorder • Cholesterol metabolism effected. • Common characteristics: • Multiple malformations at birth. • Mental retardation later. • Occurrence: • 1 in 20,000 people of central European decedents. • Rare in Africans and Asians.

  3. Clinical Features • Clinical anomalies: • Mental retardation (100% affected) • Small brain at birth (microcephaly) >90% • Second and third toe fusion (synadactyly) ~98% • Genital abnormalities in males >50% • Muscle weakness (hypotonia) ~50% • Polydactyly • Abnormalities of heart, lung, kidneys, and liver.

  4. Smith-Lemli-Opitz Syndrome • Distinctive facial features: • High, broad forehead • Narrow temples • Upward pointing nostrils • Drooping eyelids and a broad nasal bridge • Behavioral characteristics: • Repeated self injury • Prolonged temper tantrums & violent outbursts • Hyperactivity www.apollos.net/.../ images/grade5_small.jpg

  5. Molecular Defects • Caused from mutation in the DHCR7 gene • Located at 11q12-13 • Encodes for sterol-Δ7-reductase • Defects in sterol-Δ7-reductase • Build up of 7-dehydrocholesterol • Deficiency of cholesterol • Importance of cholesterol • Important component in cell membrane and myelin sheaths • Precursor for steroid hormones such as progesterone • Precursor for bile salts

  6. Cholesterol Metabolism http://www.thefetus.net/images/article-images/syndromes/smith-lemli-opitz_silva_jeanty_files/cholesterol-smith-1.gif

  7. Diagnosis and Treatment • Diagnosis: • Detection of an elevated level of 7-dehydrocholesterol in plasma • Treatment: • Individuals with SLOS need support and care • Congenital abnormalities can be corrected with surgery. • Dietary cholesterol supplementation is beneficial.

  8. Reference • Jira, P.E., Waterham, H.R., Wanders, R.J.A., Smeitink, J.A.M., Sengers, R.C.A.: Smith-Lemli-Opitz Syndrome and the DHCR7 Gene.Annals of Human Genetics. 2003;67,269-280 • Pasternak, J.J.: An introduction to Human Molecular Genetics. Second Edition. Pg. 550-552.John Wiley & Sons Inc. 2005. 111 River Street, Hoboken, NJ 07030. • www.apollos.net/.../ images/grade5_small.jpg • http://www.thefetus.net/images/article-images/syndromes/smith-lemli-opitz_silva_jeanty_files/cholesterol-smith-1.gif

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