epidermolysis bullosa with pyloric atresia; aplasia cutis congenita with gastrointestinal atresia

Genetics

• autosomal recessive
• associated with defects in ITGA6 (integrin alpha-6, CD49f)

Clinical manifestations

• mucocutaneous fragility & gastrointestinal atresia, most commonly affecting the pylorus

More general terms

• epidermolysis bullosa
• genetic disease of the skin (genodermatosis)

Database

• OMIM: https://mirror.omim.org/entry/226730