jaureguis+Smith-Lemli-Optiz

Smith-Lemli-Optiz Syndrome (SLOS) People who have SLOS are unable to make enough cholesterol to support their growth and development. People with this disorder may also have a extra fingers or toes and problems with organs(such as the heart or kidney.) But if a child has a more severe SLOS then they might have other affects.
 * Description: (TNR, 12, Bold) **


 * Inheritance: **

SLOS is inherited in a recessive pattern. Because it's recessive, a child will not have the symptoms of the disorder unless both parents have the gene so the child is 100% with this disorder. If both parents are carriers, each of their children will have a twenty-five percent chance or inheriting the disorder to be a carrier or be born with it. But if only one of the parents happens to have SLOS, then there is much less chance for the child to be born with this disease.

Symptoms are different from person to person, depending on the amount of cholesterol they can produce. The can have mental retardation and poor growth. the common physical sings of this disease are cleft palate which means a split of upper lip, malformed genitals which on seems to appear in males and polydactyl (extra fingers and toes.) Other symptoms that may come at birth include: Microcephaly (small head),the kids might have drooping eyelids, heart defects, hearing or sight loss, and difficulties in eating. With the right medical care and right diet at a person with SLOS can live a normal life. But the worst part of this disease is when they can't produce no cholesterol usually die a few months after birth.
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 * Diagnosis: **

An ultrasound (a machine that uses sound waves to look inside a mothers uterus) can seem to show the physical deformations before a baby is born. Amniocentesis and Chorionic villus sampling (CVS) can also tell whether the baby will be born with SLOS. After birth a blood test is taken so they can say whether or not they do have the disorder. The test looks for low levels of cholesterol, at the same time looks for high than normal levels of cholesterol.

There is no real treatment for SLOS, but cholesterol supplies can improve children’s growth and development. Surgery may be necessary to correct some of the physical crookedness they have like (Cleft palate, and more) associated with the disorder.
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There investigators are testing of initial hypothesis and preliminary data collection leading to long term fundings by major granting institution and continuation of ongoing research while other founding’s is in the final stages of acceptance.
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<span style="color: black; font-family: Times,serif; font-size: 12pt;">In the United States about 1 out of every 20,000 babies is born with SLOS. SLOS was initially named RSH, for the initials of the first three patients diagnosed with the disorder. It was later changed to honor the three geneticists (David Smith, Luck Lemli, and Jhon Optiz) who first described the disorder in 1964.
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