Achalasia-microcephaly syndrome

Achalasia-microcephaly syndrome is an extremely rare genetic disorder characterized by the combination of esophageal achalasia and microcephaly (an abnormally small head circumference). Achalasia is a motility disorder of the esophagus in which the lower esophageal sphincter fails to relax properly during swallowing, leading to difficulty swallowing (dysphagia), regurgitation, and failure to thrive. Microcephaly in this syndrome is associated with intellectual disability of variable severity. The condition primarily affects the gastrointestinal system and the central nervous system. Additional features that have been reported in some affected individuals include short stature and other developmental abnormalities. The syndrome typically presents in infancy or early childhood, when feeding difficulties and poor weight gain become apparent alongside recognition of reduced head growth. The condition has been described in a very small number of families, with reports suggesting autosomal recessive inheritance based on occurrence in siblings born to unaffected parents, sometimes with parental consanguinity. Treatment is symptomatic and supportive. Management of achalasia may involve pneumatic dilation of the lower esophageal sphincter or surgical myotomy (Heller myotomy) to improve esophageal emptying and feeding. Nutritional support is important to address failure to thrive. Developmental and educational interventions are recommended for intellectual disability. There is currently no cure or disease-modifying therapy for this syndrome, and long-term management requires a multidisciplinary approach involving gastroenterology, neurology, and developmental specialists.

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