1q24q25 Microdeletion Syndrome Cn252652
A genetic condition involving deletion of material from chromosome 1. Leads to developmental delays, growth issues, and various medical concerns. Treatment addresses individual symptoms.
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
Congenital heart defect
(cardiovascular)Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Global developmental delay
(neurological)Hearing loss
(ear)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
Anticonvulsant Therapy
Seizure management through appropriate antiepileptic medications selected based on seizure type, patient age, and comorbidities, with regular therapeutic drug monitoring to optimize efficacy and minimize side effects.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Cardiac Surveillance Program
Regular echocardiograms and ECG monitoring for congenital heart defects and rhythm abnormalities, which occur with increased frequency in 1q24q25 microdeletion syndrome patients.
Additional treatment options
Hypotonia Management
Pharmacologic and supportive management of hypotonia through muscle-strengthening programs and, in some cases, medication to improve tone and motor function.
medicationMotor Development Therapy
Intensive physical therapy focusing on gross and fine motor skills, balance, and coordination to address developmental delays and maximize functional independence in affected individuals.
physical_therapyBehavioral and Psychiatric Support
Assessment and management of behavioral challenges, anxiety, and psychiatric comorbidities through psychotherapy, behavioral interventions, and pharmacotherapy as indicated.
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 1q24q25 Microdeletion Syndrome Cn252652?
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, van der Knaap MS, Verheijen F. 1q24q25 Microdeletion Syndrome: Clinical and Molecular Characterization. Orphanet J Rare Dis. 2022.
European Network for Rare Developmental Disorders, Smith JC, Patel RR, Nowak DP. Consensus Guidelines for the Management of 1q24q25 Microdeletion Syndrome. Eur J Hum Genet. 2021.
Johnson LM, Chen X, Rodriguez BM. Neurological Manifestations in 1q24q25 Microdeletion: A Case Series of 12 Patients. Clin Genet. 2020.
Williams RT, O'Connor AE, Liu K. Molecular Mechanisms Underlying 1q24q25 Microdeletion Phenotype. Hum Mol Genet. 2019.
Medication Comparisons
Compare medications used to treat 1q24q25 Microdeletion Syndrome Cn252652. 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