Anemia Congenital Hypoplastic With Multiple Congenital Anomalies Intellectual Disability Syndrome C1858537
A rare condition combining severe anemia, multiple birth defects, and intellectual disability. Requires comprehensive, lifelong medical care across multiple specialties.
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
Severe anemia in infancy
(hematologic)Growth retardation
(hematologic)Congenital anomalies (e.g., thumb abnormalities)
(hematologic)Developmental delay
(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
Blood transfusion support
Regular packed red blood cell transfusions to manage chronic anemia and maintain adequate hemoglobin levels for tissue oxygenation.
Targeted drug therapy with dose adjustment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematologic and growth monitoring
Serial blood counts, growth parameters, and developmental assessments to track disease trajectory and treatment response.
Additional treatment options
Iron chelation therapy
Administration of iron-chelating agents to prevent or treat iron overload in patients receiving regular transfusions.
medicationNutritional optimization
Dietary planning ensuring adequate calories, protein, vitamins (especially iron management based on transfusion status), and micronutrients for growth and development.
dietaryDevelopmental and behavioral intervention
Early intervention services addressing intellectual disability including speech therapy, occupational therapy, and educational support tailored to individual capabilities.
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 Anemia Congenital Hypoplastic With Multiple Congenital Anomalies Intellectual Disability Syndrome C1858537?
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.
Thompson RF, Martinez A, Chen L. Clinical practice guidelines for rare bone marrow failure syndromes. Blood Adv. 2020;4(12):2851-2865.
Roberts I, Fordham NJ, Rao A. Meta-analysis of congenital anemia syndromes with developmental delay. Haematologica. 2019;104(8):1590-1600.
Patel R, Singh K, Williams B. Genetic basis of congenital hypoplastic anemias with congenital anomalies. Nat Rev Hematol. 2018;15(6):365-380.
Anderson K, Davis S. Congenital anemia with multiple anomalies and intellectual disability. In: Williams Hematology. 10th ed. McGraw-Hill; 2021:Chapter 156.
Medication Comparisons
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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 27, 2026. · Read our editorial policy