Overview
Sterol biosynthesis disorders are a group of rare inherited conditions where the body cannot properly make cholesterol and related molecules called sterols. Cholesterol is not just something we get from food — our bodies need to make it too, especially during early development. It plays a key role in building cell walls, producing hormones, and helping the brain and nervous system grow properly. When the enzymes responsible for making cholesterol are faulty due to gene changes, sterols can build up in the wrong places or be produced in too-low amounts, causing harm to many organs and body systems. These disorders vary widely depending on which step in the sterol-making process is affected. Some well-known examples include Smith-Lemli-Opitz syndrome (SLOS), desmosterolosis, lathosterolosis, and CHILD syndrome. Symptoms can range from mild learning difficulties to severe birth defects, intellectual disability, and problems with the heart, kidneys, and limbs. Many affected individuals show signs from birth or even before birth. Treatment depends on the specific disorder but often includes cholesterol supplementation to replace what the body cannot make on its own. Some patients also benefit from bile acid supplements. While these treatments can improve some symptoms, they are not a cure. Early diagnosis is very important because starting treatment early may help reduce some of the harm caused by abnormal sterol levels. Research into new therapies is ongoing.
Key symptoms:
Intellectual disability or learning difficultiesSlow growth before and after birthUnusual facial features such as a small head, drooping eyelids, or a broad noseExtra fingers or toes, or fused toes (especially the second and third toes)Heart defects present at birthKidney or urinary tract problemsBehavioral problems including autism-like behaviorsFeeding difficulties in infancyMuscle weakness or low muscle toneSensitivity to sunlight (in some types)Skin abnormalities or rashes (in some types like CHILD syndrome)Limb abnormalitiesGenital abnormalities in malesSeizuresVision or hearing problems
Variable
Can be inherited in different ways depending on the underlying gene
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Sterol biosynthesis disorder.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Sterol biosynthesis disorder.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Which specific sterol biosynthesis disorder does my child have, and how does it differ from others in this group?,What sterol levels should we be monitoring, and how often should blood tests be done?,Should my child start cholesterol or bile acid supplementation, and what are the expected benefits?,Are there any clinical trials or research studies we should consider joining?,What therapies — such as speech, physical, or behavioral therapy — would be most helpful right now?,What are the chances that other family members or future children could be affected, and should we pursue genetic counseling?,What warning signs should prompt us to seek emergency care?
Common questions about Sterol biosynthesis disorder
What is Sterol biosynthesis disorder?
Sterol biosynthesis disorders are a group of rare inherited conditions where the body cannot properly make cholesterol and related molecules called sterols. Cholesterol is not just something we get from food — our bodies need to make it too, especially during early development. It plays a key role in building cell walls, producing hormones, and helping the brain and nervous system grow properly. When the enzymes responsible for making cholesterol are faulty due to gene changes, sterols can build up in the wrong places or be produced in too-low amounts, causing harm to many organs and body syst
Which specialists treat Sterol biosynthesis disorder?
6 specialists and care centers treating Sterol biosynthesis disorder are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.