Johanson-Blizzard syndrome

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.

Absent eyelashes

Lack of eyelashes.


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PMID (PMCID)
12535044
 FEMALE
Perioperative care of the child with the Johanson-Blizzard syndrome.
Fichter CR, Johnson GA, Braddock SR, Tobias JD.
Paediatr Anaesth. 2003;13(1):72-5.
The Johanson-Blizzard Syndrome (JBS) is an autosomal recessive disorder with a characteristic phenotype, including dwarfism, a beaked nose with aplastic alae nasi, a high forehead, mid-line ectodermal scalp defects with sparse hair and absent eyelashes/eyebrows, prominent scalp veins, low set ears, a large anterior fontanelle, micrognathia, thin lips, absent permanent dentition and microcephaly.