Achalasia microcephaly syndrome

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.

Also known as: achalasia-microcephaly syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Achalasia microcephaly syndrome itself.