6q Partial Trisomy Syndrome C0265412
A genetic condition where extra genetic material is present on chromosome 6. This can affect development and cause various health issues. Treatment focuses on managing specific symptoms with a team of specialists.
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
Global developmental delay
Significant delays in reaching developmental milestones such as sitting, walking, and talking compared to typical children of the same age.
If developmental delays are suspected, seek early intervention services and pediatric evaluation promptly.
Congenital heart defect
Structural heart abnormalities present at birth, which may include septal defects, valve abnormalities, or other cardiac malformations.
Requires immediate cardiac evaluation and may necessitate surgical intervention; seek care urgently if symptoms of heart failure develop.
Seizures
Epileptic episodes that may vary in type and severity, from focal seizures to generalized tonic-clonic seizures.
Seek immediate medical attention for any seizure activity; requires neurological evaluation and possible anti-epileptic treatment.
Intellectual disability
(neurologic)Varying degrees of cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 75-85% of patients
Facial dysmorphism
(constitutional)Distinctive facial features including abnormal head shape, ear anomalies, wide-set eyes, or other characteristic facial characteristics.
Frequency: 80-90% of patients
Growth retardation
(constitutional)Poor growth velocity resulting in short stature and low weight for age, often evident in infancy and childhood.
Frequency: 50-70% of patients
Hypotonia
(neurologic)Reduced muscle tone resulting in floppy infant appearance and delayed motor skills such as head control and sitting.
Frequency: 50-65% of patients
Genitourinary anomalies
(genitourinary)Structural abnormalities of the kidneys, bladder, or reproductive organs, which may include renal malformations or genital abnormalities.
Frequency: 15-25% of patients
Skeletal abnormalities
(musculoskeletal)Bone and joint malformations including spinal curvature, limb abnormalities, or joint contractures.
Frequency: 15-25% of patients
Medication Comparisons
Compare medications used to treat 6q Partial Trisomy Syndrome C0265412. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy