Smith-Lemil-Optiz(Dukens+Joseph)


 * Description: **

A metabolic dis order when a mutation in the OHCR7 gene on chromosome 2. People who have it can’t make enough cholesterol to help normal growth. Also you can’t grow normally and can also have mental retardation.

**Inheritance: ** The parents both need to have the recessive trait, for the disease to be inherited.

**Punnett ** **Square: **


 * P****edigree C****hart:**[[image:josephD1.png height="240"]]





**Symptoms: **The symptoms are that if you have a spl it upper lip, malformed genitals ( in males), small head, drooping eyelids, heart defects, hearing or sight loss, difficulties feeding, more than five fingers or toes, and poor growth. **Diagnosis: **The disease is diagnosed when the doctor uses a ultrasound and shows the physical deformities before the baby is born. Also amniocentesis and chorionic villus sampling also can show if the baby will be born with SLOS.

**Treatment: **The disease has no cure but it can be slowed down when taking cholesterol supplements to help the child’s growth and development. You can also get surgery to clear the physical traits from the disorder.

**<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">Interesting Facts: 1 out of every 20,000 babies is born with SLOS. **

**<span style="color: black; font-family: 'Times','serif'; font-size: 16px;">SLOS was really named RSH. **

<span style="font-family: arial,helvetica,sans-serif; font-size: 13px; line-height: 19px;">**<span style="color: black; font-family: Times,serif; font-size: 16px; line-height: 18px;">Support Groups: **<span style="color: black; font-family: Times,serif; font-size: 16px; line-height: 18px;">Kennedy Krieger Institute


 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Sources: **<span style="font-family: 'Times','serif'; line-height: 115%;">[|http://learn.genetics.utah.edu/units/disorder/what] <span style="font-family: 'Arial','sans-serif'; font-size: 13px; line-height: 115%;">[|aregd/]


 * <span style="color: black; font-family: 'Times','serif'; font-size: 16px; line-height: 115%;">Pictures: **