Johanson–Blizzard syndrome
| Johanson-Blizzard syndrome | |
|---|---|
| Other names | JBS |
| Photographs of individuals with Johanson-Blizzard syndrome showing characteristic facial features | |
| Specialty | Medical genetics |
| Symptoms | pancreatic insufficiency, intellectual disability, distinctive craniofacial abnormalities, intestinal malabsorption, deafness, dental abnormalities |
| Differential diagnosis | cystic fibrosis, schwachman syndrome, Pearson marrow-pancreas syndrome |
Johanson–Blizzard syndrome (JBS) is a rare, sometimes fatal autosomal recessive multisystem congenital disorder featuring abnormal development of the pancreas, nose and scalp, with intellectual disability, hearing loss and growth failure. It is sometimes described as a form of ectodermal dysplasia.
The disorder is especially noted for causing profound developmental errors and exocrine dysfunction of the pancreas, and it is considered to be an inherited pancreatic disease.