morettig+Smith-Lemli-Optiz

Smith-Lemli-Optiz Syndrome (SLOS) Smith-Lemli-Optiz has a decrease in the amount of cholesterol, which is DHCR7 (7-decholesterol reductase) gene on chromosome 11. People who have this disease that do not have a good enough amount of cholesterol, have a harsh time with normal growth and development. They will go through poor growth, developmental problems, and mental retardation. Other common signs for SLOS are split upper-lip, malformed genitals, and extra fingers or toes. Including a small head, drooping eyelids, and heart defects.
 * Description: **


 * Inheritance: **

SLOS is inherited in a recessive pattern from the generations before hand. Meaning, it has to be from both sexes and both female/male carriers. Since it is recessive, it will only happen if both parents pass the defective copy of the DHCR7 gene. It ONLY happens if both parents are carriers. If so, each child will have a 25 percent of inheriting this gene.

Smith-Lemli-Optiz all varies depending on the amount of cholesterol they can produce. Here is the most common symptoms:
 * Symptoms: **
 * Mental retardation
 * Poor growth
 * Split upper-lip
 * Extra fingers and toes
 * Malformed genitals
 * Small head
 * Webbing between the fingers/toes
 * Drooping eyelids
 * Heart defects
 * <span style="font-family: 'Times New Roman',serif; font-size: 10pt;">Hearing/sight loss
 * <span style="font-family: 'Times New Roman',serif; font-size: 10pt;">Difficulty of feeding

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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Daily Life: **


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Diagnosis: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">When the mother is pregnant, an ultrasound can be preformed which will reveal the physical deformities before the fetus is ready to be taken out. Amniocentesis and chorionic villus sampling (CVS) also determines whether or not the baby will have SLOS. After the child is born, a blood test will finally determine whether someone has this disorder. This specific test looks for low levels of cholesterol, as well as higher-than-normal levels of precursor of cholesterol.

<span style="color: black; font-family: Times,serif; font-size: 12pt;">There is no real treatment, but cholesterol supplements can improve a child’s growth and development. Although, surgery is an option, due to their physical deformities that is involved with the disorder, and there can be a possibility of getting that fixed.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Treatment: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">Research from Kennedy Krieger Institute in Baltimore, Maryland is studying children four through eighteen years of age that has SLOS. They are diagnosing them with medications of simvastatin. This study is to see whether it is safe to use, and also help with behavior and cholesterol balance in the body. Inventors have discovered the accumulation in SLOS cells of 7-DHC causing abnormal sphingolipid storage and transport. Treatment with sphingolipid biosynthesis corrects these abnormalities.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Research: **

<span style="color: black; font-family: Times,serif; font-size: 12pt;">There are two different phenotypes for SLOS, which is: Type I (less severe) and Type II (more severe). Severe cases can be life threatening involving intellectual disability and major physical abnormalities. US study out of one-hundred-thousand newborns, two to five children may be born annually with this disease. Most children have sensitivity to UV radiation, reacting negatively to sunshine. Prone for ear infections, and infections in upper and lowers respiratory tracts.
 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Additional Facts: **


 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Punnett Square: **




 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Pedigree Chart: **




 * Pictures:**

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 * <span style="color: black; font-family: Times,serif; font-size: 12pt;">Resources: **

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