Overview
Progeroid features-hepatocellular carcinoma predisposition syndrome is an extremely rare genetic condition that combines signs of premature aging (called progeroid features) with a significantly increased risk of developing liver cancer, specifically hepatocellular carcinoma. This syndrome is caused by mutations in the RECQL4 gene or related DNA repair genes that play a critical role in maintaining the stability of our genetic material. When these genes do not work properly, cells age faster than normal and are more prone to becoming cancerous. Patients with this condition may show signs of early aging such as thin or wrinkled skin, hair loss or thinning, short stature, and skeletal abnormalities. The most serious concern is the predisposition to hepatocellular carcinoma, which is a type of primary liver cancer that can develop at an unusually young age compared to the general population. Other features may include growth delays, skin changes, and problems with bone development. Because this syndrome is so rare, there is no established cure. Treatment focuses on regular cancer surveillance, particularly liver imaging and blood tests to detect liver cancer as early as possible. Management of progeroid symptoms is supportive, addressing individual problems as they arise. Early diagnosis through genetic testing is important so that appropriate screening and monitoring can be started promptly.
Key symptoms:
Signs of premature aging such as wrinkled or thin skinHair loss or thinning hairShort stature or growth delaysSkeletal abnormalities or bone problemsLiver cancer (hepatocellular carcinoma)Skin changes including age spots or discolorationLow body weight or failure to thriveJoint stiffness or limited joint movementFacial features that appear aged beyond actual yearsFatigue or low energy levelsDelayed development in childhood
Autosomal recessive
Passed on when both parents carry the same gene change; often skips generations
Childhood
Begins in childhood, roughly ages 1 to 12
Treatments
No FDA-approved treatments are currently listed for Progeroid features-hepatocellular carcinoma predisposition syndrome.
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Specialists
View all specialists →No specialists are currently listed for Progeroid features-hepatocellular carcinoma predisposition 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 Progeroid features-hepatocellular carcinoma predisposition syndrome.
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.How often should my child have liver cancer screening, and what tests will be used?,What specific genetic mutation was found, and what does it mean for other family members?,Are there any clinical trials or research studies we should consider?,What signs or symptoms should prompt an emergency visit?,How can we best manage the premature aging symptoms day to day?,Should other family members be tested for this genetic change?,What is the long-term outlook, and how can we optimize my child's quality of life?
Common questions about Progeroid features-hepatocellular carcinoma predisposition syndrome
What is Progeroid features-hepatocellular carcinoma predisposition syndrome?
Progeroid features-hepatocellular carcinoma predisposition syndrome is an extremely rare genetic condition that combines signs of premature aging (called progeroid features) with a significantly increased risk of developing liver cancer, specifically hepatocellular carcinoma. This syndrome is caused by mutations in the RECQL4 gene or related DNA repair genes that play a critical role in maintaining the stability of our genetic material. When these genes do not work properly, cells age faster than normal and are more prone to becoming cancerous. Patients with this condition may show signs of e
How is Progeroid features-hepatocellular carcinoma predisposition syndrome inherited?
Progeroid features-hepatocellular carcinoma predisposition syndrome follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Progeroid features-hepatocellular carcinoma predisposition syndrome typically begin?
Typical onset of Progeroid features-hepatocellular carcinoma predisposition syndrome is childhood. Age of onset can vary across affected individuals.