In 1978, Williams et al. described four siblings with achalasia, microcephaly, intellectual impairment, and similar facial features for the first time (Williams et al. 1978; Dumars et al. 1980). Achalasia-Microcephaly syndrome is an inherited syndrome characterized by combination of achalasia, microcephaly, and intellectual impairment, typically presenting in infancy or early childhood (neonatal) with symptoms such as coughing, difficulty swallowing, vomiting, poor growth, and aspiration (Orphanet 2025). Achalasia-Microcephaly syndrome is an extremely rare genetic syndrome, with estimated prevalence less than one in a million people. By 2017, only a handful of family cases, totally nine children, had been reported in the medical literature (Wafik and Kini 2017; Orphanet 2025).