Smith Lemli Opitz Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Smith Lemli Opitz Syndrome?
A primary care doctor, such as a pediatrician, usually coordinates care. Specialists often involved include a medical geneticist, a heart doctor, a feeding specialist, and developmental therapists. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What it is
Smith Lemli Opitz Syndrome is a rare genetic condition passed down through genes. People with it have trouble making cholesterol, which the body needs to build cells and hormones. The condition ranges from mild to severe.
Symptoms
Signs vary from person to person. Some babies have slow growth before and after birth. Many have some degree of intellectual disability. Physical differences can include joined fingers or toes, a small head, and low-set ears. Some children have heart defects or feeding problems.
Causes and who gets it
The condition is caused by changes in a gene called DHCR7. A child must inherit one changed copy from each parent. When both parents are carriers, each pregnancy has a one in four chance of being affected. It occurs in roughly one in 20,000 to 60,000 births.
How doctors diagnose it
Doctors often begin with a physical exam and health history. A blood test can measure 7-dehydrocholesterol, a chemical that builds up in people with the condition. Genetic testing can confirm the diagnosis. Sometimes it is suspected before birth on ultrasound.
Treatment
There is no cure. Treatment focuses on managing each person's specific symptoms, often with several specialists working together. Some children take cholesterol supplements by mouth, which may help with growth and feeding. Surgery can repair heart defects or separate joined fingers and toes.
When to see a doctor
A parent should talk to a doctor if a baby has trouble feeding, grows slowly, or has unusual physical features such as joined fingers or toes. Early evaluation can lead to earlier support.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance; a concierge doctor usually charges more and often works alongside insurance. Either type can spend extra time coordinating care for a child with a complex condition and refer the family to specialists when needed.
Common questions
Can Smith Lemli Opitz Syndrome be cured?
No, there is no cure, because the condition comes from a change in a person's genes. Treatment can ease many symptoms and support development. How much a person improves depends on the severity of their condition, and results differ from person to person.
Can it be found before a baby is born?
Yes, in some cases. Ultrasound pictures during pregnancy may show signs that lead doctors to offer further testing. Families who already have one child with the condition can talk to a genetic counselor about testing in future pregnancies.
Do people with this condition live normal lifespans?
It depends on how severe the condition is. People with mild forms often live into adulthood. Severe forms, especially those with major heart defects, can be life-threatening in infancy. Each person's outlook is different.
Should parents of a child with the condition be tested?
Parents of an affected child are almost always carriers of one changed copy of the gene. A genetic counselor can explain what this means for future pregnancies. Testing of relatives is a personal choice and can be discussed with a doctor.
Sources
- MedlinePlus Genetics - Smith-Lemli-Opitz syndrome
- NIH Genetic and Rare Diseases Information Center - Smith-Lemli-Opitz syndrome
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
