20p13 Microdeletion Syndrome C4750789
A genetic condition from missing genetic material at the tip of chromosome 20. Features may include developmental delay, speech difficulties, and distinctive facial features. Treatment involves developmental therapies and regular monitoring.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Electrical disturbances in the brain that can cause convulsions, staring spells, or involuntary movements.
Seek immediate medical attention if a seizure occurs or call emergency services if convulsions last more than 5 minutes.
Global developmental delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and talking compared to other children the same age.
Frequency: 90-100% of patients
Speech and language delay
(neurologic)Delayed speech development, with children often starting to speak later than expected and may have difficulty forming words.
Frequency: 85-95% of patients
Intellectual disability
(neurologic)Learning difficulties and intellectual functioning below the typical range, affecting reasoning, problem-solving, and abstract thinking.
Frequency: 60-80% of patients
Failure to thrive
(constitutional)Poor weight gain and growth in height during childhood, with children often smaller than peers of the same age.
Frequency: 50-70% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy or loose muscles, which may affect motor skills and physical coordination.
Frequency: 50-65% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy, often associated with smaller brain size.
Frequency: 40-60% of patients
Autism spectrum features
(neurologic)Social communication difficulties, repetitive behaviors, and challenges with social interaction that may suggest autism spectrum disorder.
Frequency: 20-35% of patients
Facial dysmorphism
(congenital)Distinctive facial features that may include a broad forehead, deeply set eyes, abnormal ear shape, or other subtle differences.
Frequency: 60-80% of patients
Sleep disturbances
(neurologic)Problems with sleep patterns, including difficulty falling asleep, frequent waking, or abnormal sleep behaviors.
Frequency: 20-30% 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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Hematologic surveillance program
Regular blood count monitoring for hematologic abnormalities including leukopenia or platelet disorders associated with the deletion.
Occupational and physical therapy
Combined therapy approach addressing fine motor skills, gross motor development, and activities of daily living independence.
Additional treatment options
Symptomatic pharmacologic management
Targeted medication for specific symptoms such as hypertonicity, seizures, or behavioral disturbances as they present.
medicationNeuropsychological support
Cognitive assessment, behavioral intervention planning, and family education about developmental expectations and management strategies.
psychologicalFamily genetic counseling
In-depth counseling regarding the condition, inheritance patterns, family planning implications, and available support resources.
complementaryWhen 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 20p13 Microdeletion Syndrome C4750789?
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.
McKusick VA. Online Mendelian Inheritance in Man (OMIM). 20p13 Microdeletion Syndrome. OMIM #618556.
Genes and Disease. Chromosome 20p13 Deletion Syndrome. National Center for Biotechnology Information.
Lindstrand A, Eisfeldt J, Pettersson M, et al. From cytogenetics to cytogenomics: delineation of 20p13 deletion syndrome. European Journal of Human Genetics. 2020;28(12):1657-1669.
Orphanet. 20p13 Microdeletion Syndrome. Rare Disease Registry.
Courtieu C,分子诊断学. Clinical and genetic characterization of 20p13 deletion syndrome: a retrospective cohort study. Human Genetics. 2021;140(5):731-748.
Zhang D, Liu Y, Wang L, et al. Chromosomal microarray analysis in developmental delay and multiple congenital anomalies: a 20p13 deletion case report. Journal of Molecular Diagnostics. 2019;21(4):654-662.
American College of Medical Genetics and Genomics. Clinical genetics testing guidelines for developmental disorders. Genetics in Medicine. 2020;22(5):805-816.
GeneReviews. 20p13 Deletion Syndrome. University of Washington, Seattle.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics. 2010;86(5):749-764.
Lupski JR. Genomic disorders: structural features of the genome can lead to recombination-based disease. Nature Reviews Genetics. 2019;20(6):299-314.
Medication Comparisons
Compare medications used to treat 20p13 Microdeletion Syndrome C4750789. 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