Craniometalfyseal dysplasi
Engelsk navn: Craniometaphyseal dysplasia
Definisjon
Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.
Fra Orphanet
ORPHA: 1522
Klassifiseringsnivå: Disorder
ICD-10: Q78.8