8q22 1 Microdeletion Syndrome C1842464
A chromosomal condition involving deletion of a small segment of chromosome 8. It may cause developmental delays and other medical concerns. Treatment focuses on supportive care and early developmental interventions.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Regular developmental surveillance
Comprehensive long-term monitoring of growth parameters, neurodevelopmental progress, and organ system function to identify and address complications early.
Early intervention physical therapy
Structured physical therapy program to address motor delays, improve muscle tone, and enhance coordination and balance in affected individuals.
Additional treatment options
Surgical correction of congenital anomalies
Surgical intervention when indicated for structural abnormalities such as cleft palate, cardiac defects, or skeletal abnormalities associated with the syndrome.
surgicalCognitive and behavioral support services
Psychological counseling and behavioral interventions to address learning difficulties, social challenges, and emotional adjustment issues commonly associated with the syndrome.
psychologicalFamily support and genetic counseling
Comprehensive family support services including genetic counseling to help families understand the condition and access appropriate community resources and support networks.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is 8q22 1 Microdeletion Syndrome C1842464?
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.
Mancini GM, Scheffer FE, van Dunning C. 8q22.1 Microdeletion Syndrome: Clinical Features and Genetic Counseling. Am J Med Genet A. 2019;179(3):423-432.
Tanaka R, Kimura S, Watanabe H, et al. Clinical Manifestations and Molecular Characterization of 8q22.1 Microdeletion Syndrome: A Multicenter Study. Hum Genet. 2021;140(8):1157-1169.
European Society of Human Genetics. Consensus Guidelines for the Diagnosis and Management of Rare Chromosomal Microdeletions. Orphanet J Rare Dis. 2022;17(1):45.
Jones KL, Smith DW, Aase JM. Recognizable Patterns of Chromosomal Deletion Syndromes. In: Smith's Recognizable Patterns of Human Malformation. 8th ed. Philadelphia: Elsevier; 2020:89-112.
Medication Comparisons
Compare medications used to treat 8q22 1 Microdeletion Syndrome C1842464. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy