Johanson Blizzard Syndrome C0175692
A rare genetic condition causing pancreatic insufficiency, nasal abnormalities, intellectual disability, and other features. It affects multiple body systems. Management involves enzyme replacement, addressing specific symptoms, and supportive care.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pancreatic exocrine insufficiency
(congenital)Ventricular septal defect
(congenital)Sensorineural hearing loss
(congenital)Microcephaly
(congenital)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Pancreatic enzyme replacement therapy (PERT)
Oral pancreatic enzyme supplements with meals to manage exocrine pancreatic insufficiency causing malabsorption and failure to thrive.
Nasal and craniofacial reconstruction
Surgical correction of nasal anomalies including choanal atresia repair and rhinoplasty to improve airway patency and address cosmetic concerns.
Additional treatment options
Fat-soluble vitamin supplementation
Supplementation of vitamins A, D, E, and K along with B12 and iron as indicated by laboratory monitoring due to malabsorption despite enzyme replacement.
dietaryDevelopmental and cognitive intervention
Early intervention services including speech therapy, occupational therapy, and special education support to address developmental delays and learning difficulties.
psychologicalEndocrine and metabolic surveillance
Regular monitoring for diabetes mellitus, hypothyroidism, and growth hormone deficiency which are associated with the syndrome, with appropriate hormone replacement as needed.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Johanson Blizzard Syndrome C0175692?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Johanson Blizzard Syndrome C0175692. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy