Familial Monosomy 7 Syndrome C5681220
A rare blood disorder where children lack chromosome 7 in some cells. It often leads to bone marrow problems and may require bone marrow transplantation for treatment.
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)Easy bruising
(hematologic)Recurrent infections
(immune)Renal malformation
(renal)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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematopoietic Stem Cell Transplantation
Allogeneic stem cell transplantation is the primary curative treatment for bone marrow failure in monosomy 7 syndrome. This procedure replaces defective hematopoietic stem cells with healthy donor cells, potentially restoring normal blood cell production.
Androgen Therapy
Androgenic steroids such as oxymetholone may stimulate erythropoiesis and improve blood counts in some patients. This serves as a supportive measure when transplantation is not immediately available.
Additional treatment options
Regular Blood Count Surveillance
Frequent complete blood count monitoring is essential to track disease progression and detect early signs of bone marrow deterioration or leukemic transformation.
monitoringPsychosocial Support
Counseling and psychological support help patients and families cope with the chronic nature of this genetic condition and the stress of invasive treatments like transplantation.
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 Familial Monosomy 7 Syndrome C5681220?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Familial Monosomy 7 Syndrome C5681220. 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