/mandibulofacial dysostosis-microcephaly syndrome

mandibulofacial dysostosis-microcephaly syndrome

Rare Disease

MONDO:0012516

Also Known As

MFDM syndromemandibulofacial dysostosis with microcephalymandibulofacial dysostosis, Guion-Almeida typemandibulofacial dysostosis-microcephaly syndromeGrowth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palateGrowth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palateGrowth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palateGrowth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndromeMFDGAMFDM

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.