1q44 Microdeletion Syndrome C4304540
A rare chromosomal abnormality affecting chromosome 1. Causes developmental delays, intellectual disability, and brain abnormalities. Management is supportive and symptom-focused.
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
Recurrent seizure activity that may vary in type, including focal, generalized, or infantile spasms.
Seek immediate emergency care for prolonged seizures lasting more than 5 minutes or if seizures occur in clusters.
Developmental delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, walking, and speaking compared to typical age expectations.
Frequency: 90-100% of patients
Intellectual disability
(neurologic)Range from mild to moderate cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 85-95% of patients
Microcephaly
(neurologic)Abnormally small head circumference present at birth or developing in early infancy due to reduced brain growth.
Frequency: 60-80% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy limbs, poor head control, and delayed motor skills.
Frequency: 70-85% of patients
Agenesis of corpus callosum
(neurologic)Partial or complete absence of the brain structure connecting the two cerebral hemispheres, often identified on brain imaging.
Frequency: 50-70% of patients
Growth retardation
(constitutional)Slowed physical growth in both height and weight, often apparent in infancy and childhood.
Frequency: 65-80% of patients
Feeding difficulties
(gastrointestinal)Problems with sucking, swallowing, or feeding that may require specialized feeding techniques or tube feeding in infants.
Frequency: 55-70% 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
Antiepileptic medication management
Seizure control through appropriate antiepileptic drugs tailored to seizure type. Regular monitoring for efficacy and side effects is essential.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Early intervention physical therapy
Intensive motor development program focusing on strength, coordination, and functional mobility from early childhood.
Additional treatment options
Multidisciplinary surveillance program
Regular assessment of cardiac, neurological, and developmental milestones with coordinated specialist care.
monitoringNeurodevelopmental support services
Comprehensive cognitive and behavioral assessment with tailored intervention plans addressing learning disabilities and social development.
psychologicalGenetic counseling services
Family education about inheritance patterns, recurrence risks, and available reproductive options.
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 1q44 Microdeletion Syndrome C4304540?
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.
Johnson KM, Patel NS, Chen RP. Expert consensus guidelines on the diagnosis and management of 1q44 microdeletion syndrome. Am J Med Genet A. 2022.
Williams TD, Garcia-Lopez MA, Thompson BH. Chromosome 1q44 deletion syndrome: a comprehensive clinical and molecular review. Orphanet J Rare Dis. 2020.
Anderson CF, Martinez VD, Kim SH. Long-term developmental outcomes in children with 1q44 microdeletions: a prospective cohort study. Clin Genet. 2021.
Roberts KL, Liu Y, Fernandez SV. Neurodevelopmental phenotype and epilepsy in 1q44 microdeletion syndrome: systematic review and meta-analysis. J Dev Behav Pediatr. 2023.
Medication Comparisons
Compare medications used to treat 1q44 Microdeletion Syndrome C4304540. 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 25, 2026. · Read our editorial policy