Craniofrontonasal dysplasi
Engelsk navn: Craniofrontonasal dysplasia
Engelske synonym: CFND,CFNS,Craniofrontonasal syndrome
Definisjon
A rare X-linked malformation syndrome characterized by craniofacial abnormalities, grooved nails, intellectual disability and various skeletal and soft tissue abnormalities.
Fra Orphanet
ORPHA: 1520
Klassifiseringsnivå: Disorder
ICD-10: Q87.1