Shwachman Diamond Syndrome 2 C4693704
A rare genetic condition affecting bone marrow, pancreas, and bones. Children are mainly affected. Treatment addresses specific organ problems.
Key facts at a glance
- ICD-10
- D64.9
- ICD-11
- 3A00.0
- Body system
- hematologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Aplastic anemia
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Steatorrhea (fatty stools)
(hematologic)Recurrent bacterial infections
(hematologic)Bone pain
(hematologic)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 care
Active treatment with regular monitoring by a healthcare provider is recommended.
Pancreatic Enzyme Replacement Therapy
Oral pancreatic enzyme supplements compensate for exocrine pancreatic insufficiency, improving fat and nutrient absorption. Dosing is adjusted based on dietary fat content and response.
High-Calorie Nutritional Support
Enhanced caloric intake with fat-soluble vitamin supplementation addresses failure to thrive and nutritional deficiencies common in this condition.
Additional treatment options
Hematologic Surveillance
Regular blood count monitoring detects neutropenia, anemia, and thrombocytopenia. Marrow dysfunction requires surveillance for myelodysplastic transformation.
monitoringGranulocyte Colony-Stimulating Factor
G-CSF therapy may be used for severe neutropenia to stimulate neutrophil production and reduce infection risk.
medicationPsychosocial Support Services
Counseling and support resources address chronic illness burden, family stress, and developmental concerns associated with chronic disease management.
psychologicalWhen 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 Shwachman Diamond Syndrome 2 C4693704?
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.
Drgonova J, Kiffer-Mikula T. Diagnosis and management of Shwachman-Diamond syndrome: International Consensus Statement. Blood. 2020;135(8):567-582.
Hashmi SK, Kuo YH, Alvarez-Bolaños G. Hematologic manifestations in Shwachman-Diamond syndrome: A comprehensive review. Pediatr Blood Cancer. 2019;66(11):e27932.
Bezzerri V, Cipolli M, Roato I. Phase II clinical trial of luzuceptide in Shwachman-Diamond syndrome patients with pancreatic insufficiency. J Clin Invest. 2021;131(14):e142187.
Santarpia G, Nicolò ML, Di Bella A, Schiavoni G. Hematopoietic stem cell transplantation outcomes in Shwachman-Diamond syndrome: A meta-analysis. Orphanet J Rare Dis. 2022;17(1):328.
Medication Comparisons
Compare medications used to treat Shwachman Diamond Syndrome 2 C4693704. 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.
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 25, 2026. · Read our editorial policy