Smith-Lemli-Opitz Syndrome (SLOS) is a variable genetic disorder that is characterized by slow growth before and after birth, small head, mild to moderate mental retardation and multiple birth defects including particular facial features, cleft palate, heart defects, fused second and third toes, and underdeveloped external genitalia in males. Some of the signs and symptoms of Smith-Lemli-Opitz Syndrome include drooping eyelids, fold in the inner corners of the eye, long upper lip, small jaw and large external ears.
HOW IS SMITH-LEMLI-OPITZ SYNDROME DIAGNOSED?
Diagnosis here would be done by a somnologist who would check for genital defects and also do tests to check the high levels of serum concentration of 7-DHC in the body.
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?
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.