Synonyms: Carmi syndrome | JEB with pyloric atresia | JEB-PA
A severe form of junctional epidermolysis bullosa (JEB) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.
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 September 2024
Newly diagnosed with
Junctional epidermolysis bullosa with pyloric atresia?
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
DEBRA International
Empower people with EB and their support networks, advocates, healthcare professionals, researchers, and industry with the knowledge and tools they need to better the lives of those with epidermolysis bullosa (EB) worldwide.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.