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 diagnosis of SLOS is based on physical findings and detection of an elevated concentration of 7-dehydrocholesterol (7-DHC) in blood serum or an elevated 7-dehydrocholesterol: cholesterol ratio. Molecular genetic testing is needed for definitive diagnosis.
HOW IS SMITH-LEMLI-OPITZ SYNDROME TREATED?
Treatment and management of this problem includes restriction on diet especially high cholesterol foods. Post this, medications are also given for intervention and controlling the problem of gas. These individuals are also taken to physical/occupational/speech therapists to help them lead normal lives.
DID YOU KNOW?
The severity of the disease varies greatly among individuals, even belonging to the same genetic family. Some affected people may have a normal development with some minor birth defects while others may have very prominent birth defects that may even make survival difficult.