Smith-Lemli-Opitz syndrome

Overview

What is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz (SLO) syndrome is a rare metabolic disease. It was named for the 3 doctors who first identified the disease in patients, back in 1964: David Smith, Luc Lemli, and John Opitz.

People with SLO have a problem making cholesterol. They are missing an enzyme (called 7-dehydrocholesterol reductase) that helps our bodies synthesize or make cholesterol.

While you may have heard that too much cholesterol is bad for you, our bodies need cholesterol to grow properly both before and after birth. Because cholesterol is an important component in our cells and brains, SLO affects many parts of the body.

People with SLO typically have distinct facial features, poor growth, and developmental delays and/or mental retardation. They can also have physical malformations such as abnormally small heads, webbing between the 2nd and 3rd toes, small or abnormal genitalia in males, and problems with their organs, particularly the heart, eyes, and/or kidneys. The symptoms of SLO will be different in each person, depending on how much cholesterol their body makes. To learn more, visit: Smith-Lemli-Opitz.

References
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Are there other names for Smith-Lemli-Opitz syndrome?

How common is Smith-Lemli-Opitz syndrome?

Are there other names for Smith-Lemli-Opitz syndrome?

Other names for Smith-Lemli-Opitz syndrome are:

  • SLO syndrome
  • SLOS
  • RSH syndrome (refers to the first letter of the names of the first 3 patients identified with the condition)
  • 7-dehydrocholesterol reductase deficiency

To learn more about other names for SLO, speak with your doctor.

References
How common is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz syndrome is rare. It occurs in approximately 1 in 20,000-60,000 births. It is more common in Caucasian families of Central European descent.

References

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