Mandibulofacial dysostosis-microcephaly syndrome
Mandibulofacial dysostosis-microcephaly syndrome
Definition
Mandibulofacial dysostosis-microcephaly syndrome is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, developmental delay, and intellectual disability.
Also known as mandibulofacial dysostosis with microcephaly, mandibulofacial dysostosis-microcephaly syndrome, mandibulofacial dysostosis, Guion-Almeida type, MFDM syndrome — per MONDO