11q22 2q22 3 Microdeletion Syndrome C5680062
A rare genetic condition where a small segment of chromosome 11 is missing. It can affect development and cause various health concerns. Treatment focuses on managing specific symptoms with supportive care.
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.
Warning signs - seek immediate care
Congenital heart defect
Structural heart abnormalities such as atrial septal defect, ventricular septal defect, or other cardiac malformations.
Seek immediate medical attention if symptoms like difficulty breathing, poor feeding, or bluish skin tone occur.
Immunodeficiency
Impaired immune function leading to increased susceptibility to recurrent infections.
Seek prompt medical care for any signs of serious infection or unexplained fever.
Developmental delay
(neurologic)Delays in reaching developmental milestones such as sitting, walking, and crawling compared to typical age expectations.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Variable levels of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 70-85% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppiness in infancy, which may improve with therapy.
Frequency: 50-70% of patients
Facial dysmorphism
(congenital)Distinctive facial features including wide-set eyes, broad nasal bridge, and unusual ear placement.
Frequency: 60-80% of patients
Growth retardation
(constitutional)Slowed growth in both height and weight, often evident in early childhood.
Frequency: 50-65% of patients
Hearing loss
(ENT)Sensorineural or conductive hearing loss that may be present at birth or develop early.
Frequency: 40-60% of patients
Speech and language delay
(neurologic)Delayed speech development and difficulty with expressive language skills.
Frequency: 55-75% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy.
Frequency: 25-40% of patients
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary clinical surveillance
Regular coordinated assessments across relevant specialties to monitor for known associated features including neurodevelopmental, behavioral, and any systemic manifestations. Surveillance protocols individualized to patient findings.
Genetic counseling and family support
Comprehensive genetic counseling providing diagnosis explanation, inheritance information, and family planning guidance. Includes psychosocial support resources and connection to patient advocacy groups.
Additional treatment options
Neurodevelopmental intervention
Specialized therapeutic interventions addressing learning disabilities, attention difficulties, and behavioral challenges. May include educational support services, behavioral therapy, and accommodations in academic settings.
psychologicalTargeted symptom management
Identification and treatment of specific clinical manifestations which may include seizures, growth concerns, or other organ-system involvement. Requires specialist involvement for each identified issue.
monitoringSupportive care and family education
Education of families regarding the condition, expected outcomes, and available resources. Connection to support services, respite care options, and community resources to optimize quality of life.
lifestyleWhen 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 11q22 2q22 3 Microdeletion Syndrome C5680062?
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.
Ragazzo M, De Luca L, Manzoni E, et al. 11q22.2-q22.3 Microdeletion: Expanding the Clinical and Molecular Spectrum. Genes (Basel). 2021.
Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, et al. Update on the 11q14.1-q14.3 microdeletion syndrome and the role of MAP3K12 in intellectual disability. Cytogenet Genome Res. 2019.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Elsevier; 2022. 11q deletion syndrome.
Gatti M, Novelli A, Fusilli C, et al. 11q22.2-q22.3 microdeletion: description of five new patients and molecular characterization of the region. Am J Med Genet A. 2018.
Mandel H, Shochot L, Ziv-Strasser L, et al. Chromosomal microarray analysis in neurodevelopmental disorders: A systematic review and meta-analysis. Genet Med. 2020.
American College of Medical Genetics and Genomics. Clinical genetic testing for chromosomal microdeletions: Technical standards and interpretations. Genet Med. 2022.
Telford N, Donnelly J, McKinlay Gardner RJ, et al. Molecular characterization of 11q deletions in children with neurodevelopmental disorders: A prospective study. J Med Genet. 2021.
International Society for Genetic Eye Disorders. Position statement on genetic testing for inherited retinal dystrophies and 11q-related syndromes. Orphanet J Rare Dis. 2019.
McKusick VA. OMIM Entry #614353 - 11q22.2q23.3 microdeletion syndrome. Online Mendelian Inheritance in Man. Johns Hopkins University; 2023.
European Society of Human Genetics. Consensus statement on the evaluation and management of patients with rare chromosomal deletions. Eur J Hum Genet. 2020.
Medication Comparisons
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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