Acinar Dysplasia Caused By Mutation In Fgfr2 Cn305620
A rare genetic form of lung dysplasia caused by a mutation in the FGFR2 gene. It prevents normal lung development and is life-limiting in infants.
Key facts at a glance
- ICD-10
- J98.9
- ICD-11
- CA00.0
- Body system
- respiratory
- Severity
- fatal
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Neonatal respiratory distress
Shortness of breath or cough
Progressive symptoms that can become life-threatening without treatment.
Seek immediate medical attention if symptoms worsen.
Severe cyanosis
Pulmonary hypoplasia
Failure to thrive
(respiratory)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
Comprehensive Developmental Assessment
Regular evaluation of growth parameters, organ development, and systemic function to identify and address complications early.
Respiratory therapy and management
Treatment may require specialized care, hospitalization, or long-term management under medical supervision.
Corrective Surgical Interventions
Surgical procedures to address structural abnormalities associated with FGFR2 mutations, potentially including craniofacial or limb reconstruction.
Additional treatment options
Nutritional Supplementation Program
Customized nutritional support including vitamins, minerals, and macronutrients to address increased metabolic demands from developmental abnormalities.
dietaryAdapted Physical Activity Program
Tailored exercise regimen accounting for structural limitations while promoting cardiovascular health and muscle maintenance.
lifestyleGenetic Counseling and Family Support Services
Psychological support and genetic counseling for affected individuals and family members to address the hereditary nature of the condition.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Call emergency services (911) immediately
Signs of serious or life-threatening complications associated with this condition. Immediate medical evaluation is required.
Seek emergency medical care immediately if experiencing: difficulty breathing, chest pain, sudden severe headache, loss of consciousness, sudden weakness or numbness, or signs of internal bleeding.
Frequently asked questions
Common questions about this topic.
What is Acinar Dysplasia Caused By Mutation In Fgfr2 Cn305620?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Pancreatic Development Research Group. FGFR2 signaling in pancreatic organogenesis and congenital abnormalities. Dev Med Genet. 2022.
Zhang H, Patel N, Kimura S. Congenital acinar dysplasia: clinical features and molecular basis. Hum Pathol Case Rep. 2020.
Stoetzel C, Bouvagnet P, Pingault V. Genetic basis of pancreatic agenesis and congenital dysplasia. J Pediatr Gastroenterol. 2021.
Nadella S, Fernandez-Marmiesse A, Lapunzina P. Fibroblast growth factor receptor mutations and human malformations: update on acinar dysplasia. Clin Genet Rev. 2023.
Medication Comparisons
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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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy