Learn About Achalasia Microcephaly Syndrome

What is the definition of Achalasia Microcephaly Syndrome?
Achalasia microcephaly syndrome is an extremely rare genetic syndrome that appears in infants and is characterized by microcephaly (abnormally small head), intellectual disability, achalasia (esophageal dysfunction), and failure to thrive (growth and development delay).
Save information for later
Sign Up
What are the symptoms of Achalasia Microcephaly Syndrome?
Symptoms of achalasia microcephaly syndrome include an abnormally small skull (microcephaly), intellectual disability, the presence of eye folds, crossed eyes, large ears, prominent nose, large lower jaw (mandibular prognathia), excessive hairiness (hirsutism), coughing, aspiration, vomiting, difficulty swallowing, and esophageal dysfunction (achalasia).
Not sure about your diagnosis?
Check Your Symptoms
What are the current treatments for Achalasia Microcephaly Syndrome?
While there is no cure for achalasia microcephaly syndrome, treatment focuses on alleviating symptoms and supportive care and may include surgery to help alleviate esophageal dysfunction.
Who are the top Achalasia Microcephaly Syndrome Local Doctors?
Learn about our expert tiers
Learn more
What are the latest Achalasia Microcephaly Syndrome Clinical Trials?
Match to trials
Find the right clinical trials for you in under a minute
Get started
What are the Latest Advances for Achalasia Microcephaly Syndrome?
Tired of the same old research?
Check Latest Advances