The term Smith-Lemli-Opitz Syndrome defines a problem where there is mutations and leads to distinctive facial features and head growth in these individuals. It is caused because of cholesterol metabolism abnormalities. The most common symptoms here would be the distinctive kinds of facial features that such individuals have along with cardiac issues and similar health problems.
HOW IS SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED?
The Prenatal diagnosis includes fetal sonography and molecular genetic testing in certain cases. The postnatal tests recommended by the pediatrician may include biochemical studies and diagnostic tests that detects the measurement of 7-dehydrocholesterol in blood serum.
HOW IS SMITH-LEMLI-OPITZ SYNDROME TREATED?
Cholesterol supplementation is usually recommended by the doctor and at times in combination with bile acids. Severe cases may require surgery of cleft palates, heart and genital abnormalities. Genetic counseling is also required and suggested by the doctor for the parents.
DID YOU KNOW?
No long term treatment has been effective till date for this syndrome.