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Smith-Lemli-Opitz syndrome is a rare inherited disorder caused by an enzyme deficiency that leads to a lack of natural cholesterol in the body, resulting in physical and mental developmental problems. There is no cure, but dietary supplements and corrective surgery can alleviate some symptoms. It is detected before birth through ultrasound examinations and confirmed through blood tests. Treatment involves regular doses of a cholesterol supplement and surgical procedures.
Smith-Lemli-Opitz syndrome is an inherited disorder that can lead to a variety of developmental problems, both physical and mental. It is a rare condition that results from an enzyme deficiency, which causes a lack of natural cholesterol in the body. Symptoms can range from mild cognitive problems and short stature to severe mental retardation and physical deformities. A person born with the condition typically experiences lifelong problems, although doctors may attempt to alleviate some symptoms with dietary supplements and corrective surgery.
The condition is named after the three medical researchers who initially described it in 1964, although the underlying genetic origins weren’t recognized until 1993. Doctors now know that Smith-Lemli-Opitz syndrome is an autosomal recessive disorder, which it means that both parents must pass a particular mutated gene to their child in order for the condition to be expressed. The gene responsible for Smith-Lemli-Opitz syndrome is unable to produce an enzyme that normally controls cholesterol production. Without enough natural cholesterol, a child is prone to delayed, incomplete and abnormal development.
A child born with Smith-Lemli-Opitz syndrome is likely to have a smaller than average head, very pronounced facial features, and low muscle tone. Abnormal development of important internal organs, including the heart and lungs, can lead to serious medical complications. Fingers or toes may be fused together, or a baby may be born with extra fingers. As a child grows older, they are likely to suffer from low cognition, communication problems, emotional instability, and behavioral problems.
The presence of Smith-Lemli-Opitz syndrome is usually detected before a child is born through routine ultrasound examinations. An obstetrician can confirm a diagnosis after delivering the baby by doing computed tomography scans and running a series of blood tests. A blood sample that reveals an abnormally low level of cholesterol in the body is clearly indicative of Smith-Lemli-Opitz syndrome.
As with many genetic disorders, there is no clear cure for Smith-Lemli-Opitz syndrome. The treatment of choice for most patients involves regular oral doses or intravenous injections of a cholesterol supplement. The extra cholesterol can help promote better growth and development, although a patient is highly unlikely to approach full mental maturity. Surgical procedures can be helpful in correcting malfunctioning internal organs and structural problems. Individuals usually must receive frequent medical checkups and maintain special diets throughout their lives to ensure their health and comfort.
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