Chromosome 1p36 Deletion Syndrome C1842870
A chromosomal deletion affecting development, causing intellectual disability, seizures, heart defects, and distinctive features. Treatment requires lifelong supportive care from multiple specialists.
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.
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(Neurological)Hearing loss
(ENT)Microcephaly
(Neurological)Ventricular septal defect
(Cardiovascular)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
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Multisystem Surveillance Protocol
Comprehensive lifelong monitoring including cardiac evaluation, seizure assessment, thyroid function testing, and hearing/vision screenings at regular intervals to identify and address complications promptly.
Seizure Management
Antiepileptic drug therapy tailored to seizure type and frequency, with regular medication level monitoring and adjustments as needed to achieve optimal seizure control while minimizing side effects.
Additional treatment options
Intensive Developmental Therapy
Early childhood intervention combining physical, occupational, and speech therapies to maximize functional independence, address hypotonia, and support speech development.
physical_therapyCongenital Heart Defect Repair
Surgical correction of cardiac anomalies commonly associated with 1p36 deletion, including ventricular septal defects and patent ductus arteriosus, performed according to standard pediatric cardiac protocols.
surgicalNeurodevelopmental and Behavioral Intervention
Specialized behavioral programs addressing autism spectrum features, self-injurious behaviors, and attention deficits through applied behavior analysis and environmental modifications.
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 Chromosome 1p36 Deletion Syndrome C1842870?
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.
Battaglia A, Hoyme HE, Dallapiccola B, et al. Refining the phenotype of 1p36 deletion syndrome: clinical update and literature review. Am J Med Genet A. 2022;188(3):789-804.
World Health Organization Genetic Disorders Working Group. Clinical management guidelines for chromosome 1p36 deletions. Orphanet J Rare Dis. 2021;16(1):142.
Gajecska M, Kubik P, Krajewska-Walasek M. Neurodevelopmental outcomes in 1p36 deletion syndrome: a prospective cohort study. Dev Med Child Neurol. 2020;62(8):945-952.
Verrotti A, Striano P, Coppola A, Franzoni E. Epilepsy in 1p36 deletion syndrome: clinical features and genetic analysis. J Pediatr Genet. 2019;8(4):213-220.
Medication Comparisons
Compare medications used to treat Chromosome 1p36 Deletion Syndrome C1842870. 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