Triploidy syndrome
ORPHA:3376· ICD-10 Q92.7
Definition
Triploidy is a rare chromosomal anomaly, polyploidy, characterized by early in utero growth restriction, and multiple birth defects, including neural tube defects, facial abnormalities, cleft lip/palate, congenital heart anomalies, genital malformations, and peripheral skeletal abnormalities. It is usually prenatally lethal.
- Prevalence
- Unknown
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal