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Mandibulofacial dysostosis-microcephaly syndrome

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


This syndrome is characterised by mandibulofacial dysostosis, microcephaly, cleft palate, growth retardation, intellectual deficit and severe language delay. It has been described in four patients. The aetiology is known.

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Detailed information

Clinical genetics review
  • EN (2014)
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