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Condition report · Otolaryngological

Johanson-Blizzard Syndrome

Johanson-Blizzard syndrome is a very rare recessive condition that causes hearing loss from birth together with problems in how the pancreas produces digestive enzymes.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

A recessive condition caused by changes in UBR1, featuring congenital sensorineural hearing loss, exocrine pancreatic insufficiency, underdevelopment of the nose wings and other features.

What a diagnosis changes

Knowing about it allows pancreatic enzyme replacement and hearing support to be started early.

Genes analysed

Also known as

JBS; nasal alar hypoplasia, hypothyroidism, pancreatic achylia and congenital deafness; pancreatic insufficiency, combined exocrine

MONDO:0009479OMIM 243800OMIM 260450Orphanet 2315MedGen 59798

Other otolaryngological conditions

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