Synonyms: JBS
Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency hypoplasia/aplasia of the nasal alae hypodontia sensorineural hearing loss growth retardation anal and urogenital malformations and variable intellectual disability.
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
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Johanson-Blizzard syndrome?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
Together, we enrich the lives of people affected by ectodermal dysplasias by fostering community, providing education and support, and driving advocacy and groundbreaking research—creating a brighter future for all.
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
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Clinical Trials
For a list of clinical trials in this disease area, please click here.