bockb+SLOS

Smith-Lemli-Optiz Syndrome **Description: ** Smith-Lemli-Optiz syndrome (also known as SLOS or 7-dehydrocholesterol reductase deficiency) is a metabolic disorder caused by a mutation in the DHCR7 gene on chromosome eleven. Without this enzyme, you can’t make enough cholesterol to support normal growth. In other words, if you have SLOS, you will have growth problems, physically and mentally. **Inheritance: **SLOS is a syndrome with an autosomal recessive pattern. In other words, the offspring will only have the symptoms of the syndrome if both parents carry and pass a bad copy of the DHCR7 gene. **Symptoms: ** Symptoms of SLOS include mental retardation, poor growth, cleft plate, split upper lip, malformed genetics (in males only), small head, webbing between the second and third toes, drooping eyelids, heart defects, hearing or sight loss, and difficulties feeding. **Daily Life: ** media type="custom" key="9722376" **Diagnosis: **SLOS is diagnosed with ultrasound. The ultrasound is used to view deformities before a baby is born. Amniocentesis and CVS can also diagnose it. **Treatment: ** There is no full treatment yet, but people who have SLOS can use cholesterol supplements to lower their cholesterol by balancing levels of cholesterol while raising good cholesterol like HDL cholesterol. **Research: ** Many scientists involve studies on children with SLOS. They are currently testing on using synthetic cholesterol (fake cholesterol) in people with SLOS. Records show that this new way to rid SLOS is working. **Additional Facts: ** Most children are stillborn or die early because of serious malformations of the CNS (central nervous system). **<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Punnett Square: ** **<span style="color: black; font-family: 'Times New Roman','serif'; font-size: 16px;">Your PowerPoint Jpeg of Punnett Square with Key will be inserted here. (centered) **

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**<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Resources: ** <span style="color: blue; font-family: 'Arial','sans-serif'; font-size: 13px; line-height: 115%;">Pub Med Health