Smith-Lemli-Opitz Syndrome is a rare genetic disorder that is characterized by slow growth before and after birth. Small head, mild or moderate mental retardation, multiple birth defects relating to facial features, cleft palate, heart defects, extra fingers or toes and undeveloped external genitals in male babies etc. are particularly prominent signs of this disease.
HOW IS SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED?
Diagnosis of Smith-Lemli-Opitz Syndrome depends on the symptoms, physical evaluation and clinical diagnostic tests. Blood serum tests to evaluate elevated levels of 7-dehydrocholesterol helps confirm diagnosis of Smith-Lemli-Opitz Syndrome.
HOW IS SMITH-LEMLI-OPITZ SYNDROME TREATED?
Besides medication, Smith-Lemli-Opitz Syndrome is treated by way of surgery to correct cleft palate, heart defects and genital anomalies. Cholesterol supplementation, sometimes, helps in improving growth and has no harmful side-effects.
DID YOU KNOW?
Smith-Lemli-Opitz Syndrome is inherited as an autosomal recessive genetic disorder.