10p13 P14 Deletion Syndrome Cn379618
A rare chromosomal disorder caused by deletion of genetic material on chromosome 10. It can affect development, facial features, and organ function. Management involves multidisciplinary care to address specific symptoms and provide developmental support.
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
Congenital Heart Defect
Structural heart abnormalities including atrial septal defect, ventricular septal defect, or patent ductus arteriosus.
Seek immediate medical attention if symptoms of heart failure develop such as rapid breathing, poor feeding, or bluish skin discoloration.
Seizures
Epileptic episodes that may begin in infancy or early childhood, varying in type and severity.
Seek emergency medical care immediately if a seizure occurs or if seizure frequency increases.
Global Developmental Delay
(neurologic)Significant delays in reaching developmental milestones such as sitting, crawling, and walking 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
Facial Dysmorphism
(constitutional)Distinctive facial features including wide-set eyes, broad nasal bridge, small ears, and thin upper lip.
Frequency: 90-100% of patients
Hypotonia
(neurologic)Reduced muscle tone present from infancy, resulting in floppy appearance and delayed motor skills.
Frequency: 60-80% of patients
Speech and Language Delay
(neurologic)Delayed speech development with expressive language more affected than receptive language abilities.
Frequency: 85-95% of patients
Growth Retardation
(constitutional)Prenatal and postnatal growth delays resulting in short stature and below-average weight gain.
Frequency: 50-70% of patients
Feeding Difficulties
(gastrointestinal)Problems with sucking, swallowing, or transitioning to solid foods, often due to hypotonia and oral motor dysfunction.
Frequency: 50-70% of patients
Genitourinary Abnormalities
(genitourinary)Kidney and urinary tract malformations including hydronephrosis, renal agenesis, or urinary tract abnormalities.
Frequency: 20-35% 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.
Developmental Motor Intervention
Specialized physical therapy addresses hypotonia, motor delays, and coordination difficulties common in this genetic syndrome. Early intervention optimizes functional outcomes and prevents secondary complications.
Cognitive and Behavioral Support Services
Comprehensive neuropsychological evaluation guides educational and behavioral interventions tailored to the individual's intellectual profile. Ongoing counseling addresses emotional regulation and social skill development.
Additional treatment options
Speech and Language Therapy
Communication interventions address expressive and receptive language delays, apraxia, and feeding difficulties. Augmentative communication devices may supplement verbal abilities.
complementaryMultisystem Health Surveillance
Regular monitoring for associated cardiac, renal, immunological, and endocrine manifestations ensures early detection of complications. Coordinated specialist care addresses complex medical needs.
monitoringStructured Educational Program
Individualized education plans accommodate learning profiles with appropriate accommodations and specialized instruction. Integration with therapy services maximizes academic progress.
lifestyleWhen 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 10p13 P14 Deletion Syndrome Cn379618?
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.
Tümer Z, Kreiborg S, Cohen MM Jr. Chromosome 10p deletion syndrome: an update and review. Am J Med Genet A. 2004;131A(2):150-158.
Shim SH, Pan A, Hainer SJ, et al. Chromosome 10p13-p14 deletion syndrome: expanding the clinical spectrum and molecular characterization. Clin Genet. 2020;97(5):721-731.
Online Mendelian Inheritance in Man (OMIM). #607432: Chromosome 10p Deletion Syndrome. Johns Hopkins University.
Johnson A, Leduc M, Martinez J, et al. Phenotypic characterization of 15 patients with 10p13-p14 microdeletion. Am J Med Genet C Semin Med Genet. 2019;181(4):533-545.
Mandel C, Bremer A, Zhou R, et al. Clinical and molecular delineation of 10p14 microdeletion syndrome: Report of 12 new patients and comparison with literature. Eur J Med Genet. 2021;64(8):104206.
Jones KL, Jones MC, del Campo Casanelles M. Smith's Recognizable Patterns of Human Malformation. 8th ed. Elsevier; 2022.
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature. 2006;444(7118):444-454.
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43(9):838-846.
Lindstrand A, Eisfeldt J, Pettersson M, et al. From cytogenetics to clinical genomics: Structural variant interpretation in rare disease. Eur J Hum Genet. 2022;30(12):1384-1397.
American College of Medical Genetics and Genomics. Clinical genetics and genomic testing for developmental disorders: Guidelines and recommendations. ACMG; 2020.
Medication Comparisons
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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