aliceaj+Smith-Lemli-Opitz-Syndrome

Smith-Lemli-Opitz-Syndrome Smith-Lemli-Opitz-Syndrome is a disorder caused by a change in a certain gene on chromosome 11. People with this are unable to make enough cholesterol to support growth and development.
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Smith-Lemli-Opitz-Syndrome is inherited in a certain recessive pattern. Since it is recessive, a child will not have the disease unless both parents are carriers of the messed up copy of a certain type of gene called the DHCR7 gene.

Symptoms of this disease vary depending on the amount of cholesterol somebody produces. In addition to mental retardation and poor growth, common physical signs of SLOS are a split upper lip, malformed genitals, and extra fingers or toes. Severely affected individuals usually get miscarriage, stillborn, or die in the first weeks of life. Other symptoms are a small head, learning disabilities and behavioral problems, paleness, low muscle tone, eye problems, or hearing problems.
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An ultrasound can reveal the big physical deformities before a baby is born. Certain tests can also determine whether the baby will have SLOS.
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 * Treatment: **

Currently, there is no treatment, but cholesterol supplements can help a child grow and develop, also, there is no surgery to correct this disease.

I could not find research being done on this disease.
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One out of every 20,000 babies is born with SLOS.
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