Tetrasomy 18p syndrome
ORPHA:3307· ICD-10 Q99.8
Definition
Tetrasomy 18p is a very rare structural chromosomal anomaly affecting multiple body systems and characterized clinically by craniofacial abnormalities, delayed development, cognitive impairment, changes in muscle tone, distinctive facial features, and rarely renal malformations.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal