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What is Smith-Lemli-Opitz Syndrome?

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  • Written By: D. Jeffress
  • Edited By: Jenn Walker
  • Last Modified Date: 12 September 2016
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Smith-Lemli-Opitz syndrome is an inherited disorder that can lead to a number of developmental problems, both physically and mentally. It is a rare condition that results from an enzyme deficiency, causing a lack of natural cholesterol in the body. Symptoms can range from mild cognition problems and short stature to severe mental retardation and physical deformities. A person who is born with the condition typically experiences lifelong problems, though doctors can attempt to relieve some symptoms with dietary supplements and corrective surgery.

The condition is named after the three medical researchers who initially described it in 1964, though the underlying genetic origins were not recognized until 1993. Doctors now know that Smith-Lemli-Opitz syndrome is an autosomal recessive disorder, which means that both parents have to pass a particular mutated gene down 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 the production of cholesterol. Without enough natural cholesterol, an infant is subject to delayed, incomplete, and abnormal development.

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A baby who is born with Smith-Lemli-Opitz syndrome is likely to have a smaller-than-average head, very pronounced facial features, and low muscle tone. The abnormal development of important internal organs, including the heart and lungs, can lead to serious medical complications. The fingers or toes may be fused together, or a baby may be born with extra digits. As a child gets older, he or she is likely to suffer from low cognitive capacity, communication problems, emotional instability, and behavioral issues.

The presence of Smith-Lemli-Opitz syndrome is usually detected before a baby is born through routine ultrasound screenings. An obstetrician can confirm a diagnosis after delivering the baby by taking computerized tomography scans and performing 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 diseases, 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. Extra cholesterol can help to promote better growth and development, though it is highly unlikely that a patient will ever approach full mental maturity. Surgical procedures may be helpful in correcting internal organ malfunctions and structural problems. Individuals usually need to receive frequent medical checkups and maintain special diets throughout their lives to ensure their health and comfort.

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