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).
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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).
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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?
Elite
Highly rated in
8
conditions

Hôpital Robert Debré

Paris, FR 

Sandrine Passemard is in Paris, France. Passemard is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Cortical Dysplasia, and Autosomal Recessive Primary Microcephaly.

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Highly rated in
130
conditions

Hôpital D'Enfants

Dijon, FR 

Laurence Faivre is in Dijon, France. Faivre is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 130 other conditions, according to our data. His top areas of expertise are Cortical Dysplasia, Hypotonia, Cohen Syndrome, and Achalasia Microcephaly Syndrome.

 
 
 
 
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Elite
Highly rated in
75
conditions

University Of Cologne

Koeln, NW, DE 

Peter Nurnberg is in Koeln, Germany. Nurnberg is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 75 other conditions, according to our data. His top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Cortical Dysplasia, and Autosomal Recessive Primary Microcephaly.

What are the latest Achalasia Microcephaly Syndrome Clinical Trials?
Microcephaly at Birth as a Potential Predictor of Poor Prognosis in Infants Weighing 500 Grams or Less: a Retrospective Cohort Study
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Intensive Therapy for Children With Microcephaly, Hyperkinetic Movements, or Global Developmental Delay
What are the Latest Advances for Achalasia Microcephaly Syndrome?
Human Brain Organoids as an In Vitro Model System of Viral Infectious Diseases.
Scientometric Analysis of Public Health Emergencies: 1994-2020.
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Paving Therapeutic Avenues for FOXG1 Syndrome: Untangling Genotypes and Phenotypes from a Molecular Perspective.