Achalasia microcephaly


Achalasia-microcephaly is an extremely rare genetic syndrome, reported in a few families to date, characterized by the association of microcephaly, intellectual deficit and achalasia (with symptoms of coughing, dysphagia, vomiting, failure to thrive and aspiration appearing in infancy/early-childhood). Antenatal exposure to Mefloquine was reported in one simplex case. An autosomal recessive inheritance has been proposed.


  • Small head
  • Intellectual deficit
  • Enlarged esophagus
  • Impaired peristalsis
  • Cardiospasm 
  • Recurring vomiting
  • Respiratory infections
  • Abnormal dermatoglyphics
  • Abnormal nasal morphology
  • Cognitive impairment




  • NIH