Frontometalfyseal dysplasi
Engelsk navn: Frontometaphyseal dysplasia
Definisjon
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.
Fra Orphanet
ORPHA: 1826
Klassifiseringsnivå: Disorder
ICD-10: Q78.5