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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).
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?
Erlangen, BY, DE 

Heinrich Sticht practices in Erlangen, Germany. Sticht and is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. His top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Cytomegalovirus Infection, and Short Stature (Growth Disorders).

Paris, FR 

Sandrine Passemard practices in Paris, France. Passemard and is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. Her top areas of expertise are Microcephaly, Achalasia Microcephaly Syndrome, Cortical Dysplasia, and Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1).

 
 
 
 
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CLAD Est, 
Dijon, FR 

Laurence Faivre practices in Dijon, France. Faivre and is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. His top areas of expertise are Cohen Syndrome, Achalasia Microcephaly Syndrome, Microcephaly, and Hypotonia.

What are the latest Achalasia Microcephaly Syndrome Clinical Trials?
The FBRI VTC Neuromotor Research Clinic

Summary: The FBRI VTC Neuromotor Research Clinic was established and opened in May of 2013 to provide intensive therapeutic services to individuals with motor impairment secondary to neuromotor disorders. It is direct by Dr. Stephanie DeLuca and based on the principles surrounding ACQUIREc Therapy. ACQUIREc Therapy is an evidenced-based approach to pediatric constraint-induced movement therapy, which refer...

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Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions

Summary: This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills. No current treatment for these conditions is available. A m...