Conditions / Syndrome

mandibulofacial dysostosis, Guion-Almeida type

info ยท Syndrome

A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.

Signs and symptoms

  • Preaxial hand polydactyly
  • Epicanthus
  • Upslanted palpebral fissure
  • Preauricular skin tag
  • Trigonocephaly
  • Short stature
  • Deep philtrum
  • Anteverted nares
  • Short nose
  • Microtia

Also known as: MFDM syndrome; mandibulofacial dysostosis with microcephaly; mandibulofacial dysostosis-microcephaly syndrome