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 April 2026
Newly diagnosed with
Mandibulofacial dysostosis-microcephaly syndrome?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
For a list of clinical trials in this disease area, please click here.