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).
What are the symptoms for 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).
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.