Smith-Lemli-Opitz syndrome
How is it treated?
In surviving infants and children, good medical care and nutritional supplements have extended life span. In view of the enzyme deficiency and low level of cholesterol in the blood, treatments with cholesterol supplements are currently being assessed to determine whether these will improve health and lessen the incidence of behavioural problems.
What are the causes?
| Inheritance patterns and prenatal diagnosis ![]()