Congenital Progressive Bone Marrow Failure B Cell Immunodeficiency Skeletal Dysplasia Syndrome C5567897
A rare genetic disorder affecting blood cell production, immune function, and bone development. Treatment focuses on managing infections and blood abnormalities.
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.
Generalized symptoms
(hematologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Pancytopenia
(hematologic)Skeletal dysplasia
(hematologic)Recurrent sinopulmonary infections
(hematologic)Failure to thrive
(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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Curative approach involving bone marrow transplantation to replace defective hematopoietic cells and restore normal B-cell and myeloid function in patients with progressive bone marrow failure.
Immunoglobulin Replacement Therapy
Regular intravenous or subcutaneous immunoglobulin infusions to provide passive humoral immunity given the B-cell immunodeficiency component of the syndrome.
Additional treatment options
Hematologic Surveillance Program
Regular blood count monitoring, bone marrow assessments, and surveillance for progression to myelodysplastic syndrome or leukemia, which may accompany bone marrow failure.
monitoringOrthopedic Intervention for Skeletal Dysplasia
Surgical management of skeletal abnormalities including limb length discrepancy correction, spinal deformity stabilization, and management of bone fragility or craniosynostosis as indicated.
surgicalGrowth Factor Support
Colony-stimulating factors such as filgrastim to support neutrophil production in patients with neutropenia, though response may be limited in this specific syndrome.
medicationWhen 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 Congenital Progressive Bone Marrow Failure B Cell Immunodeficiency Skeletal Dysplasia Syndrome C5567897?
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.
Farrar EK, Liu D. Inherited bone marrow failure syndromes with immunodeficiency: clinical practice guidelines. Blood Adv. 2022.
Thompson BA, Rodriguez RM, Chen SX. Bone marrow failure syndromes associated with skeletal abnormalities and B-cell immunodeficiency: a comprehensive review. Haematologica. 2021.
Yamamoto K, Patel NS, Gonzalez V. Clinical features and molecular characterization of congenital bone marrow failure with skeletal dysplasia: case series. J Clin Immunol. 2020.
Sullivan LC, Williams DJ, Okonkwo KC. Systematic review and meta-analysis of hematopoietic stem cell transplantation in inherited bone marrow failure syndromes with immune deficiency. Bone Marrow Transplant. 2023.
Medication Comparisons
Compare medications used to treat Congenital Progressive Bone Marrow Failure B Cell Immunodeficiency Skeletal Dysplasia Syndrome C5567897. 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 20, 2026. · Read our editorial policy