Frank-Ter Haar syndrome
ORPHA:137834· ICD-10 Q87.8
Definition
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal