Mandibulofacial dysostose-mikrokefali (MFDM)
Engelsk navn: Mandibulofacial dysostosis-microcephaly syndrome
Engelske synonym: MFDM syndrome,Mandibulofacial dysostosis, Guion-Almeida type
Definisjon
A rare genetic, multiple congenital malformation syndrome characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism (with significantly overlap to Treacher Collins syndrome), developmental delay, and intellectual disability.
Fra Orphanet
ORPHA: 79113
Klassifiseringsnivå: Disorder
ICD-10: Q87.0
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
