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Johanson-Blizzard syndrome
Other Resources UpToDate PubMed

Johanson-Blizzard syndrome

Contributors: Abhijeet Waghray MD, Desiree Rivera-Nieves MD, Khaled Bittar MD, Nishant H. Patel MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Synopsis

Johanson-Blizzard syndrome is a very rare multisystem autosomal recessive disorder of ectodermal dysplasia that presents with a wide variety of symptoms. The most common symptoms include exocrine pancreatic insufficiency, a beak-shaped nose, alopecia, short stature, and abnormalities of the permanent teeth. Other signs and symptoms include poor growth, malabsorption, hypothyroidism, failure to thrive, aplasia cutis congenital (abnormal pattern of hair growth), developmental delay, sensorineural deafness, and anorectal / genitourinary anomalies. Onset of symptoms occurs shortly after birth or in early infancy.

Infants will often present with failure to gain weight and, as time progresses, will have delays in achieving developmental milestones and eventually exhibit short stature. Pancreatic abnormalities lead to enzyme deficiencies causing severe malabsorption. In some cases, malabsorption proves fatal despite medical treatment. Treatment includes pancreatic enzymes and vitamin supplements.

Codes

ICD10CM:
Q87.89 – Other specified congenital malformation syndromes, not elsewhere classified

SNOMEDCT:
75979009 – Johanson-Blizzard Syndrome

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Last Reviewed:01/09/2018
Last Updated:06/26/2022
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Johanson-Blizzard syndrome
A medical illustration showing key findings of Johanson-Blizzard syndrome (Adult) : Hypotonia, Short stature, Alopecia, RBC decreased
Copyright © 2022 VisualDx®. All rights reserved.