Progeroid features-hepatocellular carcinoma predisposition syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Progeroid features-hepatocellular carcinoma predisposition syndrome

Synonyms: Ruijs-Aalfs syndrome

A rare inherited cancer-predisposing syndrome characterized by early-onset hepatocellular carcinoma genomic instability and progeroid features such as short stature low body weight muscular atrophy lipodystrophy bilateral cataracts and premature hair graying. Dysmorphic craniofacial features include triangular face small deep-set eyes and micrognathia. Kyphoscoliosis sloping shoulders mild pectus excavatum bilateral contractures of the elbows and fingers bilateral clinodactyly and pes planus have also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

Newly diagnosed with
Progeroid features-hepatocellular carcinoma predisposition syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Advocacy Organizations

Cache DNA

At Cache, we are on a mission to store the biomolecules of today in order to unlock the possibilities of tomorrow. Our vision is to create a scalable, sustainable, and standardized platform for reliable storage and access of biomolecules by combining chemistry, biology, automation, and computational tools to support patient advocacy groups worldwide and better connect samples to insights.

My Faulty Gene

My Faulty Gene is a nonprofit organization which provides information and assistance to any individual whose family medical history suggests genetic testing might be helpful in identifying an increased risk of disease due to a genetic mutation. We believe that everyone in need of genetic testing should have access to it.

My Little Sunshine Foundation

My Little Sunshine is a non-profit foundation dedicated to educating people about the importance of fertility preservation and making fertility resources accessible to all.


Educate and provide resources to POC with Rare Cancers

Clinical Trials

For a list of clinical trials in this disease area, please click here.