Johanson-Blizzard syndrome

info · Syndrome

A syndrome that involves abnormal development of the pancreas, nose and scalp, with mental retardation, hearing loss and growth failure. It is inherited in an autosomal recessive manner.

Signs and symptoms

Anal atresia
Portal hypertension
Cafe-au-lait spot
Primary hypothyroidism
Intrahepatic cholestasis
Elevated circulating aspartate aminotransferase concentration
Ascites
Elevated gamma-glutamyltransferase level
Conjugated hyperbilirubinemia
Sensorineural hearing impairment

Also known as: JBS