Achalasia-Microcephaly Syndrome

Clinical Features

Williams et al. (1978) described 3 sisters and a brother with microcephaly, mental retardation, and early onset of symptoms of achalasia. The brother, who died in Mexico at age 4.5 years, had recurrent vomiting (Dumars et al., 1980). The parents denied consanguinity but came from the same small village in Mexico. Hernandez et al. (1989) stated that 2 of the affected sibs in this family had initially been reported by Polonsky and Guth (1970) as having familial achalasia (200400).

Khalifa (1988) reported 2 Libyan brothers, aged 7 and 9 years, with achalasia of the cardia, microcephaly, and mental retardation. Their parents were first cousins and were unaffected. Two other male sibs and a female twin of one of the affected brothers were also unaffected.

Hernandez et al. (1989) reported an affected boy born to second-cousin Mexican parents who came from the same area of northwest Mexico as the patients reported by Dumars et al. (1980).

Wafik and Kini (2017) reported a 6-year-old girl, born to second-cousin Pakistani parents, with achalasia cardia, microcephaly, and intellectual disability. She was noted to have partial synophrys, a hirsute back, and unilateral convergent squint.

Inheritance

Consanguinity in the families reported by Khalifa (1988), Hernandez et al. (1989), and Wafik and Kini (2017) suggests autosomal recessive inheritance.