Mandibulofacial dysostosis with microcephaly: a syndrome to remember

BMJ Case Rep. 2019 Aug 13;12(8):e229831. doi: 10.1136/bcr-2019-229831.


Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1. At physical examination he presented multiple congenital malformations including prominent forehead, plagiocephaly, low-set ears, malformed auricles, hypertelorism, downward-slanting eyes, micrognathia, everted lower lip, short neck, wide-spaced nipples and inguinal hernia. Imaging investigation showed dysplasia of the inner ear with agenesis of the vestibular-cochlear nerves and global cerebral atrophy. Analysis of the EFTUD2 gene revealed that the patient was a heterozygous carrier of a pathogenic mutation (c.831_832del[p.Lys277Asnsf*7]), which has not been previously described. This case illustrates the challenges faced in diagnosing and treating MFDM patients.

Keywords: congenital disorders; failure to thrive; genetic screening/counselling; neonatal and paediatric intensive care.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple
  • Diagnosis, Differential
  • Esophageal Atresia / complications
  • Esophageal Atresia / diagnosis*
  • Esophageal Atresia / diagnostic imaging
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Magnetic Resonance Imaging
  • Male
  • Mandibulofacial Dysostosis / complications
  • Mandibulofacial Dysostosis / diagnosis*
  • Mandibulofacial Dysostosis / diagnostic imaging
  • Mandibulofacial Dysostosis / genetics
  • Microcephaly / complications
  • Microcephaly / diagnosis*
  • Microcephaly / diagnostic imaging
  • Microcephaly / genetics
  • Peptide Elongation Factors / genetics
  • Ribonucleoprotein, U5 Small Nuclear / genetics
  • Syndrome


  • EFTUD2 protein, human
  • Peptide Elongation Factors
  • Ribonucleoprotein, U5 Small Nuclear