Achalasia Microcephaly Syndrome
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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?
Heinrich Sticht
Elite in Achalasia Microcephaly Syndrome
Elite in Achalasia Microcephaly Syndrome
Erlangen, BY, DE 

Heinrich Sticht practices in Erlangen, Germany. Mr. Sticht 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).

Michael B. Bober
Elite in Achalasia Microcephaly Syndrome
Medical Genetics
Elite in Achalasia Microcephaly Syndrome
Medical Genetics

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
Experience:
32+ years
Languages Spoken:
English

Dr. Michael B. Bober is a pediatric geneticist and an authority on skeletal dysplasias, brittle bone disease, primordial dwarfism and other genetic disorders of the skeleton. He is a frequent guest lecturer, accomplished author and consultant for numerous television networks, here and abroad. Dr. Bober is rated as an Elite provider by MediFind in the treatment of Achalasia Microcephaly Syndrome. His top areas of expertise are Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy.

 
 
 
 
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Elite in Achalasia Microcephaly Syndrome
Elite in Achalasia Microcephaly Syndrome
Paris, FR 

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

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...