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Mandibulofacial dysostosis-microcephaly syndrome

Disease 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.

ORPHA:79113

  • Synonym(s):
    • MFDM syndrome
    • Mandibulofacial dysostosis, Guion-Almeida type
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Neonatal
  • ICD-10: Q87.0
  • OMIM: 610536
  • UMLS: C1864652
  • MeSH: -
  • GARD: 10056
  • MedDRA: -

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