Johanson-Blizzard syndrome

Also known as: JBS

Definition

Orphanet

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

Go To Source: Orphanet

Symptoms

Medical Term Other Names Description
Exocrine pancreatic insufficiency Pancreatic insufficiency Impaired function of the exocrine pancreas associated with a reduced ability to digest foods because of lack of digestive enzymes.
Hypodontia Missing between one and six teeth, Failure of development of between one and six teeth A developmental anomaly characterized by a reduced number of teeth, whereby up to 6 teeth are missing.
Growth delay Growth deficiency, Delayed growth, Growth retardation, Growth failure, Retarded growth, Very poor growth [more] A deficiency or slowing down of growth pre- and postnatally.
Hearing impairment Congenital deafness, Hypoacusis, Deafness, Hearing defect, Hearing loss, Congenital hearing loss [more] A decreased magnitude of the sensory perception of sound.
Pancreatitis Pancreatic inflammation The presence of inflammation in the pancreas.
Intellectual disability Nonprogressive intellectual disability, Poor school performance, Mental-retardation, Dull intelligence, Nonprogressive mental retardation, Mental deficiency, Mental retardation, nonspecific, Low intelligence [more] Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

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