Genitopalatocardiac syndrome
ORPHA:2075· ICD-10 Q87.8
Definition
A rare, multiple congenital anomalies/dysmorphic syndrome characterized by male, 46,XY gonadal dysgenesis, cleft palate, micrognathia, conotruncal heart defects and unspecific skeletal, brain and kidney anomalies.
- Prevalence
- <1 / 1 000 000
- Age of onset
- Antenatal, Neonatal