Mandibulofacial dysostosis-microcephaly syndrome

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Synonyms: MFDM syndrome | Mandibulofacial dysostosis, Guion-Almeida type

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version June 2024

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