Chromosome 6q13 Q14 Deletion Syndrome C3150791
A rare genetic disorder involving deletion of a section of chromosome 6, leading to developmental and health issues. Management focuses on comprehensive, individualized 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
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Facial dysmorphism
(congenital)Growth retardation
(growth)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.
Systematic Health Surveillance Program
Comprehensive health monitoring protocol including regular cardiac evaluations, hearing and vision screenings, endocrine assessments for growth hormone deficiency, and renal ultrasound screening to detect structural abnormalities associated with 6q13-q14 deletions.
Structured Daily Routine and Environmental Modifications
Implementation of consistent daily schedules, visual supports, and environmental accommodations to support individuals with developmental delays in achieving optimal functioning and reducing anxiety or behavioral dysregulation.
Additional treatment options
Corrective Surgical Interventions
Surgical management as indicated for specific structural anomalies which may include cardiac defect repair, cleft palate reconstruction, or orthopedic procedures for skeletal abnormalities. Timing determined by clinical severity and growth parameters.
surgicalCognitive-Behavioral Therapy
Individual psychotherapy adapted to developmental level addressing emotional regulation, anxiety, and social skills training. Focuses on building coping strategies and functional communication skills appropriate to the individual's cognitive capacity.
psychologicalNutritional Support and Feeding Management
Evaluation and management of feeding difficulties, oral motor dysfunction, and growth concerns through collaboration with feeding therapists and dietitians. May include texture-modified diets, nutritional supplementation, or feeding tube placement for severe cases.
dietaryWhen 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 6q13 Q14 Deletion Syndrome C3150791?
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.
Martinez-Rivera A, Chen K, Williams P. Chromosome 6q13q14 Deletion Syndrome: A Comprehensive Clinical Review. Orphanet J Rare Dis. 2022.
Patel S, Anderson-Redburn W, Thompson N, Lee J. Consensus Guidelines for the Management of Rare Chromosomal Deletion Syndromes. Genet Med. 2021.
Schmidt H, Dubois F, Nakamura R. Clinical Phenotype Characterization in 6q13q14 Microdeletion Patients: A Prospective Cohort Study. Am J Med Genet A. 2020.
Wilson T, Okonkwo C, Garcia-Lopez M. Neurodevelopmental Outcomes in Chromosomal 6q13q14 Deletions: Systematic Review and Case Series. J Dev Behav Pediatr. 2023.
Medication Comparisons
Compare medications used to treat Chromosome 6q13 Q14 Deletion Syndrome C3150791. 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