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.
  • Condition: Non-Lethal Raine Syndrome (RS) During Childhood
  • Journal: Orphanet journal of rare diseases
  • Treatment Used: Phosphate Salts and Alfacalcido
  • Number of Patients: 7
  • Published —
This case series describes non-lethal Raine syndrome (genetic disorder) during childhood.
Clinical Trial
  • Status: Not yet recruiting
  • Phase: N/A
  • Intervention Type: Radiation
  • Participants: 45
  • Start Date: January 15, 2021
Microcephaly, Fanconi Anemia and Praxial Disorders
Clinical Trial
  • Status: Recruiting
  • Intervention Type: Diagnostic Test
  • Participants: 125
  • Start Date: May 20, 2019
Surveillance of Zika-related Microcephaly in Sub-Saharan Africa and Asia