Conditions / Syndrome

achalasia microcephaly syndrome

info ยท Syndrome

A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections).

Signs and symptoms

  • Microcephaly
  • Achalasia
  • Intellectual disability
  • Esotropia
  • Hirsutism

Also known as: ACHALASIA-MICROCEPHALY SYNDROME; Achalasia microcephaly