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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?
A Pediatric diagnoses Smith-Lemli-Opitz Syndrome by examining the physical findings and molecular genetic testing.
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 occurs more commonly individuals of European ancestry.