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Related Experiment Video

Updated: May 10, 2026

Granulocyte-dependent Autoantibody-induced Skin Blistering

Granulocyte-dependent Autoantibody-induced Skin Blistering

Published on: October 12, 2012

Johanson-blizzard syndrome.

Koumudi Godbole¹, Sukalo Maja, Hiremath Leena

¹Department of Genetic Medicine, Deenanath Mangeshkar Hospital and Research Center, Erandawane, Pune, India. koumudig@rediffmail.com

Indian Pediatrics

|June 20, 2013

Summary

This summary is machine-generated.

Johanson-Blizzard syndrome is a rare genetic disorder affecting multiple body systems. Genetic testing confirms diagnosis and enables prenatal diagnosis for future Indian infants.

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Area of Science:

Genetics
Pediatrics
Rare Diseases

Background:

Johanson-Blizzard syndrome (JBS) is an extremely rare autosomal recessive disorder.
It is characterized by multi-systemic clinical manifestations and a distinctive facial appearance.
Early diagnosis is crucial for managing the condition and its associated complications.

Observation:

This study details the clinical presentation and genetic findings in an infant from India diagnosed with JBS.
The infant exhibited characteristic features consistent with the syndrome.
Comprehensive clinical evaluation was performed to document the extent of multi-system involvement.

Findings:

Molecular genetic testing confirmed the diagnosis of Johanson-Blizzard syndrome.
Identification of the specific genetic mutation provides a definitive diagnosis.
This case highlights the importance of genetic analysis in diagnosing rare inherited disorders.

Implications:

Accurate genetic diagnosis is essential for Johanson-Blizzard syndrome management.
Genetic testing allows for accurate counseling regarding recurrence risks.
Prenatal diagnosis can be offered to families with a history of JBS in future pregnancies.
This research contributes to the understanding of JBS in the Indian population.