Achalasia-microcephaly syndrome

Definition

An extremely rare genetic syndrome 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.

Disease data

Classification

Malformation syndrome

ORPHA code

929

OMIM code

200450

ICD10 code

Q39.5

ICD11 code

*Soruce