C syndrome
ORPHA:1308· ICD-10 Q87.8
Definition
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.
- Prevalence
- 1-9 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal