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Mandibulofacial dysostosis-microcephaly syndrome

Synonym(s) Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome
MFDM syndrome
Mandibulofacial dysostosis, Guion-Almeida type
Prevalence <1 / 1 000 000
Inheritance Autosomal dominant
Age of onset Neonatal
  • Q87.0
MeSH -
MedDRA -


Disease definition

Mandibulofacial dysostosis-microcephaly syndrome (MFDM) is a rare genetic multiple malformation disorder characterized by malar and mandibular hypoplasia, microcephaly, ear malformations with associated conductive hearing loss, distinctive facial dysmorphism, severe craniofacial malformations, developmental delay, and intellectual disability.

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Detailed information

Clinical genetics review
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