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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?
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?
Smith-Lemli-Opitz Syndrome is inherited as an autosomal recessive genetic disorder.