Mosaic trisomy 8 syndrome
ORPHA:96061· ICD-10 Q92.1
Definition
A rare autosomal anomaly defined by the presence of three copies of chromosome 8 in some cells of the body, and clinically characterized by facial dysmorphism, typically deep palmar and plantar creases, mild intellectual deficit and joint, urinary, cardiac and skeletal anomalies.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Infancy, Neonatal