epidermolysis bullosa with pyloric atresia
MIM.226730 17q11-qter and Chr.2
Death in infancy
Synospsis
ureterovesical junction stenosis
pyelonephrosis
congenital pyloric atresia
membranous pyloric antrum obstruction
intractable diarrhea
protein-losing gastroenteropathy
fetal gastric dilatation
esophageal atresia
aplasia cutis congenita
axillary pterygia
variably involved skin, nails, and mucosa
ectropion
ear deformity
nose deformity
contracted fisted hand
arthrogryposis
skin cleavage in the lamina lucida
Etiology
germline mutations in the integrin-beta-4 gene (ITGB4) (MIM.147557) and the integrin-alpha-6 gene (ITGA6) (MIM.147556)