Contents

SynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferences

View all Images (2)

Johanson-Blizzard syndrome
Print
Other Resources UpToDate PubMed

Johanson-Blizzard syndrome

Print Images (2)
Contributors: Abhijeet Waghray MD, Desiree Rivera-Nieves MD, Khaled Bittar MD, Nishant H. Patel MD, Eric Ingerowski MD, FAAP
Other Resources UpToDate PubMed

Alerts and Notices

Synopsis

Johanson-Blizzard syndrome (Adult) : Hypotonia, Short stature, Alopecia, RBC decreased
Adult
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

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed:01/09/2018
Last Updated:06/26/2022
Copyright © 2023 VisualDx®. All rights reserved.
Johanson-Blizzard syndrome
Print   View all Images (2)
(with subscription)
A medical illustration showing key findings of Johanson-Blizzard syndrome (Adult) : Hypotonia, Short stature, Alopecia, RBC decreased

+1 More images of Johanson-Blizzard syndrome with subscription

Copyright © 2023 VisualDx®. All rights reserved.