Frontometaphyseal dysplasia
ORPHA:1826· ICD-10 Q78.5
Definition
A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Neonatal