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Junctional epidermolysis bullosa-pyloric atresia syndrome

Disease definition

Junctional epidermolysis bullosa with pyloric atresia is a severe subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by generalized blistering at birth and congenital atresia of the pylorus and rarely of other portions of the gastrointestinal tract.


Classification level: Disorder
  • Synonym(s):
    • Carmi syndrome
    • JEB-PA
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: Q81.8
  • OMIM: 226730
  • UMLS: C1856934
  • MeSH: -
  • GARD: 9694
  • MedDRA: -

Detailed information

Article for general public


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