Distal Monosomy 14q C4749276
A chromosomal disorder involving deletion of chromosome 14's end, resulting in developmental delays, intellectual disability, and congenital anomalies. Multidisciplinary management is needed.
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
Seizures
Generalized symptoms
(congenital)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurological)Microcephaly
(neurological)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.
Multidisciplinary surveillance protocol
Systematic monitoring for the variable manifestations of distal 14q deletion including cardiac anomalies, growth abnormalities, endocrine disorders, and neurodevelopmental challenges.
Corrective and reconstructive surgery
Surgical management of structural birth defects associated with distal 14q monosomy, which may include cardiac repair, cleft palate correction, or genitourinary reconstruction.
Additional treatment options
Developmental and educational support
Individualized educational interventions, speech therapy, and behavioral support services tailored to address learning disabilities, communication challenges, and behavioral concerns.
psychologicalNutritional and growth optimization
Nutritional assessment and intervention to address feeding difficulties, growth failure, or specific dietary needs associated with the chromosomal deletion syndrome.
complementaryRehabilitative therapy services
Comprehensive physical and occupational therapy program addressing hypotonia, motor delays, and functional limitations common in distal monosomy 14q syndrome.
physical_therapyWhen 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 Distal Monosomy 14q C4749276?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Distal Monosomy 14q C4749276. 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