Smith-Lemli-Opitz Syndrome is a variable genetic disorder that is characterized by slow growth before and after birth. The severity of Smith-Lemli-Opitz Syndrome depends on the affected individual and their families. Symptoms of Smith-Lemli-Opitz Syndrome are:
• Small head
• Mild to moderate mental retardation
• Cleft palate
• Heart defects
• Underdeveloped external genitalia in males
• Drooping eyelids
• Fine wrinkles of skin
• Inverted V shape of upper lip
• Low muscle tone
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?
Pediatricians treat Smith-Lemli-Opitz Syndrome based on symptoms. The child is evaluated based on a range of conditions associated with eye, heart, genitourinary and gastrointestinal disorders and treated according to the disorder. Dietary supplements are commonly followed to treat the symptoms. Surgery may be required to correct cleft palate.
DID YOU KNOW?
Smith-Lemli-Opitz Syndrome is inherited as an autosomal recessive genetic disorder.