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Achalasia - microcephaly

Synonym(s) -
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
  • Q39.5
  • C1860212
  • C536010
MedDRA -


Achalasia microcephaly syndrome is marked by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). It is a very rare condition first described in three sisters and one brother. The parents denied consanguinity but came from the same small village in Mexico. A second case was reported in a child born to a consanguineous couple coming from the same area in northwest Mexico. Analysis of these cases supports the hypothesis that the syndrome is a distinct autosomal recessive condition. However, one case has been described in Germany: one patient with achalasia microcephaly syndrome was born to a mother exposed to the anti-malarial drug Mefloquine during the first 8 weeks of pregnancy.

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