Smith-Lemli-Opitz Syndrome

What is Smith-Lemli-Opitz syndrome?

Smith-Lemli-Opitz Syndrome is caused by the body not having enough of a specific enzyme called 7-dehydrocholesterol, which leads to the body not making enough cholesterol. Cholesterol is very important for healthy growth and development of a baby both before and after birth. The signs and symptoms of Smith-Lemli-Opitz Syndrome may include weak muscles, specific facial features, smaller than normal head size, learning disabilities that are similar to autism, and abnormalities of the heart, lungs, kidneys and other organs. Smith-Lemli-Opitz syndrome symptoms can range from mild, with only minor physical changes and learning disabilities, to severe, which can be life-threatening.

How common is Smith-Lemli-Opitz syndrome?

About 1 in 25,000 babies are born with Smith-Lemli-Opitz Syndrome each year in the United States.

What can be done for Smith-Lemli-Opitz syndrome?

Most babies are diagnosed at birth because of the physical changes caused by this condition. Identifying this condition early (soon after birth) may lead to reduced symptoms and an improved quality of life. Some treatments, such as cholesterol supplementation in the diet, may help reduce the symptoms of Smith-Lemli-Opitz Syndrome.

How is Smith-Lemli-Opitz syndrome inherited?

Smith-Lemli-Opitz Syndrome is caused by changes in the DHCR7 gene. It is a recessive inherited condition, which means that a person must inherit two altered copies of the DHCR7 gene, one from each parent, in order to have the disease. People who have only one copy of the altered DHCR7 gene are called carriers, and are not expected to have symptoms of the condition. If a baby is identified as a carrier for Smith-Lemli-Opitz Syndrome through Eli screening, genetic counseling and additional testing in the parents is recommended.

References

https://www.ncbi.nlm.nih.gov/books/NBK1143/
https://ghr.nlm.nih.gov/condition/smith-lemli-opitz-syndrome#inheritance

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