Hernia, Hiatus
Goodman et al. (1969) observed 6 affected persons in 2 generations. Five of the 6 were female. This disorder is sometimes called congenital short esophagus (Myles, 1939) or partial thoracic stomach. Carre and Froggatt (1970) described 8 definite cases in 3 successive generations of a family. Others were equivocally affected. Sidd et al. (1966) observed a sliding hiatal hernia in 4 brothers, aged 42 to 44 years, 2 of whom were monozygotic twins.
Carre et al. (1999) described a 5-generation family in which 23 of 38 individuals had a radiologically proven hiatus hernia. Age of onset of symptoms ranged from birth to 30 years. Clear evidence of male-to-male transmission pointed to an autosomal dominant mode of inheritance.