Living with Progeroid features-hepatocellular carcinoma predisposition syndrome
A rare inherited condition with early signs of aging, short stature and a higher chance of liver cancer starting at a young age.
Understanding Progeroid features-hepatocellular carcinoma predisposition syndrome
It involves unstable DNA (genomic instability). Features include short stature, low body weight, muscle wasting, loss of body fat, cataracts in both eyes and early graying of hair. Facial features can include a triangular face, small deep-set eyes and a small lower jaw. It starts in childhood or the teen years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Early liver cancer (hepatocellular carcinoma)
- Short stature and low weight
- Cataracts in both eyes
- Early graying of hair
- Muscle wasting and loss of body fat
- Triangular face and small lower jaw
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 cancer specialists and genetic specialists.
- 3Consider genetic testing
Changes in SPRTN are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Cancer specialists (oncologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 rare disease patient organizations for support
- 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
Changes in the SPRTN gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: progeroid features, hepatocellular carcinoma predisposition syndrome; rjals; ruijs aalfs syndrome; ruijs-aalfs progeroid syndrome; ruijs-aalfs syndrome
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Progeroid features-hepatocellular carcinoma predisposition syndrome.
Explore research for Progeroid features-hepatocellular carcinoma predisposition syndrome
Explore actively recruiting Progeroid features-hepatocellular carcinoma predisposition syndrome studies with HealthSpark.
Find actively recruiting studies for Progeroid features-hepatocellular carcinoma predisposition 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 Progeroid features-hepatocellular carcinoma predisposition 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 Progeroid features-hepatocellular carcinoma predisposition 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 Progeroid features-hepatocellular carcinoma predisposition 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.