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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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description and occurrence
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.
clinical features
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.
smith lemli opitz syndrome
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

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molecular defects
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
cholesterol metabolism
Cholesterol Metabolism

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diagnosis and treatment
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.
reference
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