A rare genetic epilepsy syndrome characterized by epilepsy palpebral conjunctival telangiectasias borderline to moderate intellectual disability diminished serum IgA levels shortened fifth fingers and dysmorphic facial features (including frontal hirsutism synophrys anteverted nostrils prominent ears long philtrum irregular teeth implantation micrognathia). No new cases have been described in the literature since 1978.
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 http://www.orphadata.org. Data version April 2026
Newly diagnosed with
Epilepsy-telangiectasia syndrome?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
Genetic Epilepsy Team Australia
Collaboration of research and care
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Rare Epilepsy Network (REN)
Improving outcomes of people with rare epilepsies through an innovative collaborative infrastructure that drives urgent, patient-centered research, educaiton and advocacy.
Don't see your organization here. Let us know here.
Clinical Trials
For a list of clinical trials in this disease area, please click here.