Mandibulofacial dysostosis-microcephaly syndrome

MONDO:0012516

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: MFDM syndrome, mandibulofacial dysostosis with microcephaly, mandibulofacial dysostosis, Guion-Almeida type, mandibulofacial dysostosis-microcephaly syndrome, Growth and intellectual disability, mandibulofacial dysostosis, microcephaly, and cleft palate, Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate, Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate, Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome

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