Living with Smith-Lemli-Opitz syndrome
A genetic developmental condition with distinctive facial features, a small head, learning and behavior differences, and organ differences.
Understanding Smith-Lemli-Opitz syndrome
It is marked by distinctive facial features, a small head, intellectual disability or learning problems, and behavior problems. Many children have features of autism. Heart, lung, kidney, digestive and genital differences are common. Infants have low muscle tone, feeding trouble and slow growth. Most have fused second and third toes. Severity varies widely, from mild learning and behavior problems to profound intellectual disability and major physical differences.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Small head (microcephaly)
- Intellectual disability or learning problems
- Autism features
- Feeding difficulties and slow growth
- Fused second and third toes
- Heart, kidney or gut differences
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in DHCR7 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Smith-Lemli-Opitz/RSH Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Smith-Lemli-Opitz/RSH Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Smith-Lemli-Opitz/RSH Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD lists changes in the DHCR7 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: 7-dehydrocholesterol reductase deficiency; lethal acrodysgenital syndrome; polydactyly, sex reversal, renal hypoplasia, and unilobar lung; rsh syndrome; rutledge lethal multiple congenital anomaly syndrome; slo syndrome
Patient organizations
- Smith-Lemli-Opitz/RSH FoundationSmith-Lemli-Opitz syndrome · United States
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Smith-Lemli-Opitz syndrome.
Explore research for Smith-Lemli-Opitz syndrome
Explore actively recruiting Smith-Lemli-Opitz syndrome studies with HealthSpark.
Find actively recruiting studies for Smith-Lemli-Opitz syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Smith-Lemli-Opitz syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Smith-Lemli-Opitz syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Smith-Lemli-Opitz syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.