Johanson–Blizzard syndrome

Also known as: JBS

Pancreatic insufficiency, nasal alae hypoplasia and deafness.

Medical specialty: Gastroenterology
Subspecialty: Gastroenterology / Pancreatic disease
Sex & age distribution: Male: affected; Female: affected, equal; Children: yes, congenital
Gene(s) involved: UBR1

Etiology & mechanism

UBR1 ubiquitin ligase deficiency.

Gene(s) involved (1)

UBR1

Symptoms & signs (6)

deafnessdevelopmental delayexocrine pancreatic insufficiencyhypoplastic nasal alaehypothyroidismscalp defects

SyndromeScope — educational reference. Content is model-generated and not clinically verified; always confirm against OMIM, Orphanet and GeneReviews before clinical use.