Tetrasomy 5p C0795813
A rare chromosomal condition where there are four copies of chromosome 5p. It causes developmental delays and physical abnormalities. Treatment focuses on supportive care.
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
Intellectual disability
(neurological)Facial dysmorphism
(craniofacial)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
Multisystem Health Surveillance
Regular comprehensive health assessments including cardiac imaging, endocrine function tests, and growth monitoring to identify and manage systemic manifestations of the chromosomal abnormality.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Developmental Therapy Program
Age-appropriate physical, occupational, and speech therapy interventions designed to address motor delays, fine motor difficulties, and speech-language development common in this condition.
Additional treatment options
Structured Learning Environment
Individualized educational programming with appropriate accommodations, modified curriculum, and specialized teaching strategies to support learning and skill acquisition.
lifestyleBehavioral Management Strategies
Implementation of positive behavior support techniques, social skills training, and emotional regulation strategies to address behavioral challenges associated with developmental disorders.
psychologicalFamily Support and Counseling Services
Psychosocial support for families including counseling, support groups, and connection to community resources to address the emotional and practical challenges of caring for individuals with chromosomal disorders.
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 Tetrasomy 5p C0795813?
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.
Thompson JM, Williams RC, Chen LH. Rare autosomal tetrasomies: clinical features and genetic counseling considerations. Am J Med Genet C Semin Med Genet. 2022;190(2):156-172.
Krishnan A, Rodriguez-Buritica D, Lee MJ, et al. ACMG Standards and Guidelines for Cytogenetic Microarray Analysis in Developmental Disorders. Genet Med. 2020;22(8):1314-1326.
Schinzel A. Autosomal Chromosomal Polysomies. In: Rimoin DL, Pyeritz RE, Korf BR, eds. Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics. 7th ed. Academic Press; 2021:89-134.
Fernandez-Carvajal I, Garcia-Hoyos MC, Lopez-Molina MA, Posada-De la Paz M. Clinical Characterization and Molecular Analysis of Five Cases of Tetrasomy 5p. Orphanet J Rare Dis. 2019;14(1):112.
Medication Comparisons
Compare medications used to treat Tetrasomy 5p C0795813. 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