Achalasia Microcephaly Syndrome
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Achalasia Microcephaly Syndrome Overview

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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?
Elite in Achalasia Microcephaly Syndrome
Heinrich Sticht
Elite in Achalasia Microcephaly Syndrome
Heinrich Sticht
Referral may be required
Erlangen, BY, DE 

Heinrich Sticht practices practicing medicine in Erlangen, Germany. Mr. Sticht is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. He is also highly rated in 15 other conditions, according to our data. His clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cytomegalovirus Infection, and Cortical Dysplasia.

Elite in Achalasia Microcephaly Syndrome
Dr. Michael B. Bober
Medical Genetics
Elite in Achalasia Microcephaly Syndrome
Dr. Michael B. Bober
Medical Genetics
Referral may be required

Nemours Children's Hospital, Delaware

1600 Rockland Road, 
Wilmington, DE 
800-416-4441
Experience:
32+ years
Languages Spoken:
English
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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. He is also highly rated in 69 other conditions, according to our data. His clinical expertise encompasses Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2), Microcephalic Osteodysplastic Primordial Dwarfism Type 1 (MOPD1), Achondroplasia, Osteotomy, and Adenoidectomy. Dr. Bober is board certified in American Board Of Medical Genetics And Genomics.

 
 
 
 
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Elite in Achalasia Microcephaly Syndrome
Sandrine Passemard
Elite in Achalasia Microcephaly Syndrome
Sandrine Passemard
Referral may be required
Paris, FR 

Sandrine Passemard practices practicing medicine in Paris, France. Ms. Passemard is rated as an Elite expert by MediFind in the treatment of Achalasia Microcephaly Syndrome. She is also highly rated in 7 other conditions, according to our data. Her clinical expertise encompasses Achalasia Microcephaly Syndrome, Microcephaly, Cortical Dysplasia, and Microcephalic Osteodysplastic Primordial Dwarfism Type 2 (MOPD2).

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What are the latest Achalasia Microcephaly Syndrome Clinical Trials?
Prospective Pilot Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder Related to a Pathogenic Variant of the CTNNB1 Gene
Prospective Pilot Study of L-dopa Treatment in Patients With a Neurodevelopmental Disorder Related to a Pathogenic Variant of the CTNNB1 Gene
Enrollment Status: Recruiting
Publish Date: May 29, 2026
Intervention Type: Drug
Study Phase: Not Applicable

Summary: Neurodevelopmental disorders (NDD) encompass conditions that impair cognitive and/or emotional development in children, significantly impacting school, social, and family life. They are often linked to genetic causes and, in most cases, lack curative treatment. Among these disorders, monoallelic variations in the CTNNB1 gene cause a rare syndrome known as NEDSDV (Neurodevelopmental disorder with s...

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Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
Investigations of Individuals With MEHMO Syndrome or eIF2-Pathway Related Conditions
Enrollment Status: Recruiting
Publish Date: April 27, 2026

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...

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