Johanson-Blizzard syndrome

Johanson-Blizzard syndrome is a rare condition that affects many parts of the body from birth. It is characterized by several congenital (present at birth) differences, including issues with the pancreas, facial features such as underdeveloped nasal alae (the outer parts of the nose), and differences in dental development. The condition may also include growth delays, hearing loss, and changes in other areas such as the anal and urogenital regions. People with this condition can also experience intellectual differences and other congenital malformations. This summary is based on established descriptions of the syndrome and the list of symptoms observed in affected individuals.

Common signs in people with Johanson-Blizzard syndrome include pancreatic insufficiency that affects digestion, underdeveloped nasal alae, missing teeth (hypodontia), and sensorineural hearing loss. Growth retardation, as well as malformations affecting the anal and urogenital areas, are also part of the presentation. In some cases, variable intellectual disability is present.

Johanson-Blizzard syndrome is linked to changes in the UBR1 gene. Mutations in this gene affect normal development, leading to the combination of congenital anomalies seen in this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.