Overview
Osteosclerosis-ichthyosis-premature ovarian failure syndrome is an extremely rare condition that affects multiple parts of the body at the same time. The name describes its three main features: osteosclerosis (bones that become abnormally dense and hard), ichthyosis (dry, scaly, thickened skin), and premature ovarian failure (when the ovaries stop working normally before age 40, leading to early menopause and fertility problems in women). This condition is sometimes referred to by the abbreviation OIPOF syndrome. The bone changes in this syndrome mean that the skeleton becomes overly dense, which sounds like it might make bones stronger, but it can actually cause problems including pain, increased fracture risk in some areas, and pressure on nerves. The skin in people with this condition tends to be rough, scaly, and thickened, similar to other forms of ichthyosis. Women with this syndrome often experience irregular or absent periods at a young age, reduced fertility, and symptoms of early menopause such as hot flashes. Because this syndrome is so rare, treatment focuses on managing each symptom separately rather than treating the underlying cause. Skin care routines, hormone replacement therapy for ovarian failure, and monitoring of bone health are the main approaches used. There is currently no cure, and care is provided by a team of specialists working together.
Key symptoms:
Abnormally dense, hardened bones (osteosclerosis)Dry, scaly, thickened skin (ichthyosis)Ovaries stopping work before age 40 (premature ovarian failure)Irregular or absent menstrual periods in young womenReduced or absent fertility in womenEarly menopause symptoms such as hot flashes and night sweatsBone pain or discomfortPossible nerve compression due to dense bonesSkin that may crack or become inflamed
Clinical phenotype terms (4)— hover any for plain English
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Osteosclerosis-ichthyosis-premature ovarian failure syndrome.
View clinical trials →Clinical Trials
View all trials with filters →No actively recruiting trials found for Osteosclerosis-ichthyosis-premature ovarian failure syndrome at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →No specialists are currently listed for Osteosclerosis-ichthyosis-premature ovarian failure syndrome.
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 Osteosclerosis-ichthyosis-premature ovarian failure syndrome.
Community
No community posts yet. Be the first to share your experience with Osteosclerosis-ichthyosis-premature ovarian failure syndrome.
Start the conversation →Latest news about Osteosclerosis-ichthyosis-premature ovarian failure syndrome
No recent news articles for Osteosclerosis-ichthyosis-premature ovarian failure syndrome.
Follow this condition to be notified when news becomes available.
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.What genetic tests should I have to find the cause of my condition?,What hormone replacement therapy options are available for premature ovarian failure, and what are the risks and benefits?,How often should I have bone density scans, and what should I do to protect my bones?,Are there any fertility preservation options I should consider?,What skin care products or treatments do you recommend for my type of ichthyosis?,Are there any clinical trials or research studies I could participate in?,Should other family members be tested or screened for this condition?
Common questions about Osteosclerosis-ichthyosis-premature ovarian failure syndrome
What is Osteosclerosis-ichthyosis-premature ovarian failure syndrome?
Osteosclerosis-ichthyosis-premature ovarian failure syndrome is an extremely rare condition that affects multiple parts of the body at the same time. The name describes its three main features: osteosclerosis (bones that become abnormally dense and hard), ichthyosis (dry, scaly, thickened skin), and premature ovarian failure (when the ovaries stop working normally before age 40, leading to early menopause and fertility problems in women). This condition is sometimes referred to by the abbreviation OIPOF syndrome. The bone changes in this syndrome mean that the skeleton becomes overly dense, w
How is Osteosclerosis-ichthyosis-premature ovarian failure syndrome inherited?
Osteosclerosis-ichthyosis-premature ovarian failure syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.