Overview
Desmosterolosis is a very rare inherited condition that affects how the body makes cholesterol. Cholesterol is not just the substance we hear about in heart health — it is also essential for building the brain, nervous system, and many organs, especially before and shortly after birth. In desmosterolosis, the body cannot properly convert a substance called desmosterol into cholesterol because of a problem in a gene called DHCR24. This causes desmosterol to build up in the body while normal cholesterol levels stay too low. The effects of this buildup are wide-ranging and serious. Most people diagnosed with desmosterolosis have significant brain abnormalities, intellectual disability, and problems with movement and muscle tone. Physical features such as an unusually small head (microcephaly), limb differences, and facial differences are also commonly seen. Some individuals have heart defects or problems with other organs. Because cholesterol is so important during fetal development, many of the most serious effects appear before or at birth. Treatment for desmosterolosis is currently focused on managing symptoms rather than curing the disease. There is no approved specific therapy, but supportive care — including physical therapy, developmental support, and management of individual complications — can help improve quality of life. Research into cholesterol-related rare diseases is ongoing, and some scientists are exploring whether cholesterol supplementation could help, though this has not been proven effective in humans with this condition.
Key symptoms:
Intellectual disability or significant developmental delaySmall head size (microcephaly)Abnormal brain structure seen on brain scansLow or unusually high muscle toneLimb abnormalities such as short or malformed arms and legsFacial differences including a broad or flat nose and widely spaced eyesHeart defects present at birthSeizuresFeeding difficulties in infancyCleft palate or other mouth abnormalitiesAbnormalities of the genitalsSkin abnormalities
Clinical phenotype terms (50)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Desmosterolosis.
View clinical trials →Clinical Trials
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Rare Disease Specialist
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 Desmosterolosis.
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Caregiver Resources
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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.What specific changes were found in the DHCR24 gene, and what do they mean for my child's health?,Should other family members be tested to see if they are carriers?,What therapies or early intervention programs do you recommend starting right away?,Are there any clinical trials or research studies we could participate in?,What signs or symptoms should prompt us to go to the emergency room?,Is cholesterol supplementation something that might help, and are there any risks?,What specialists should be part of our care team, and how often should we see each one?
Common questions about Desmosterolosis
What is Desmosterolosis?
Desmosterolosis is a very rare inherited condition that affects how the body makes cholesterol. Cholesterol is not just the substance we hear about in heart health — it is also essential for building the brain, nervous system, and many organs, especially before and shortly after birth. In desmosterolosis, the body cannot properly convert a substance called desmosterol into cholesterol because of a problem in a gene called DHCR24. This causes desmosterol to build up in the body while normal cholesterol levels stay too low. The effects of this buildup are wide-ranging and serious. Most people d
How is Desmosterolosis inherited?
Desmosterolosis follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Desmosterolosis typically begin?
Typical onset of Desmosterolosis is neonatal. Age of onset can vary across affected individuals.
Which specialists treat Desmosterolosis?
1 specialists and care centers treating Desmosterolosis are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.