Epidermolysis Bullosa, Junctional, with Pyloric Atresia

**Semantic type:** Disease or Syndrome

**Definition:** An autosomal recessive condition caused by mutation(s), in the ITGA6 or ITGB4 genes, encoding integrin alpha-6 and integrin beta-4 respectively. It is characterized by junctional epidermolysis and pyloric stenosis/atresia.

**Synonyms:** - Carmi Syndrome - PA-JEB