16p11 2p12 2 Microduplication Syndrome C4518821
A rare genetic condition involving extra genetic material on chromosome 16. It may affect development and be associated with developmental delays, learning difficulties, and distinctive features in some individuals. Management involves supportive therapies.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Epileptic seizures that may begin in childhood, varying in type and frequency.
Seek immediate medical attention if seizures occur, especially if prolonged or accompanied by loss of consciousness.
Congenital heart defect
Structural heart abnormalities present at birth, including septal defects or other cardiac malformations.
Seek immediate pediatric cardiology evaluation if a heart defect is suspected; urgent care if symptoms of heart failure develop.
Developmental delay
(neurologic)Delayed achievement of developmental milestones including motor, cognitive, and social skills during early childhood.
Frequency: 80-90% of patients
Speech and language delay
(neurologic)Delayed onset of speech and language development, often with expressive language difficulties.
Frequency: 75-85% of patients
Hypotonia
(neurologic)Reduced muscle tone present from infancy, affecting motor coordination and movement.
Frequency: 50-60% of patients
Autism spectrum features
(psychiatric)Social communication difficulties and restricted or repetitive behaviors consistent with autism spectrum disorder.
Frequency: 40-50% of patients
Microcephaly
(constitutional)Smaller than average head circumference present at birth or developing in early infancy.
Frequency: 35-45% of patients
Chronic constipation
(gastrointestinal)Persistent difficulty with bowel movements, often requiring ongoing management.
Frequency: 30-40% of patients
Medication Comparisons
Compare medications used to treat 16p11 2p12 2 Microduplication Syndrome C4518821. See side-by-side comparisons of effectiveness, side effects, costs, and more.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy