Below is a summary for the DHCR7 gene observed in research publications. This is not meant to take the place of medical advice.
What is Smith-Lemli-Opitz syndrome?
Smith-Lemli-Opitz syndrome happens when there are changes in both copies of the DHCR7 gene. These changes can keep the gene from working as it should.
The DHCR7 gene plays an important role in cholesterol and steroid metabolism, the process by which cells make energy.
Because the DHCR7 gene is important for many different parts of the body, many people may have:
- Heart defects
- Lungs that are not fully formed
- Poor feeding and constipation
- Genital development issues
- Kidney problems
- Intellectual disability
- Low muscle tone as an infant
- High muscle tone as a child
- Brain changes found on ultrasound
- Self-harming behavior
- Aggressive behavior
Do people who have Smith-Lemli-Opitz syndrome look different?
People who have Smith-Lemli-Opitz syndrome may look different. Appearance can vary and can include some but not all of these features:
- Short height
- Smaller than average head size
- Low-set ears
- Wide-set eyes
- Large central front teeth
- Blonde hair
How many people have Smith-Lemli-Opitz syndrome?
About 1 in every 10,000 to 1 in every 70,000 babies are born with Smith-Lemli-Opitz syndrome, depending on the group of people counted.
Research Article Summaries