ABSTRACT
Gastrointestinal disorders of early life have also proved more treatable than most groups, so that individuals with previously fatal disorders reproduce. Relatively few gastrointestinal disorders follow clear Mendelian inheritance, and so genetic counselling is more dependent on empirical risks than is the case for some other systems. The Beckwith-Wiedemann syndrome of exomphalos, macroglossia, general somatic overgrowth and hypoglycaemia is an important and treatable cause to exclude. It is important to prevent symptomatic hypoglycaemia in the neonatal period and so prompt recognition is important. Genetic studies are difficult in a disorder that in the past was common and where symptoms are often ill-defined. One-quarter of first-degree relatives of patients with atrophic gastritis have histological evidence of the disorder, and a similar proportion show parietal cell antibodies. True coeliac disease is an autoimmune disorder with predisposing genetic factors, some of which are shared with those of other autoimmune conditions.
