Gastro-cutaneous syndrome: peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, hypertelorism, and myopia.
We report the familial occurrence in a French Canadian family of peptic ulcer/hiatal hernia, multiple lentigines/café-au-lait spots, apparent hypertelorism, and myopia caused by a pleiotropic autosomal dominant gene with high penetrance and variable expressivity. Other probable but rarer components of the syndrome include ischemic heart disease, congenital heart disease, and maturity onset diabetes. Symptoms of peptic ulcer/hiatal hernia usually started in the second or third decade and were associated, as least in some examined individuals, with relatively increased acid secretion and abnormal dermatoglyphics.
D000293:Adolescent; D000328:Adult; D000368:Aged; D003394:Craniofacial Dysostosis / Q000235:genetics*; D003878:Dermatoglyphics; D005006:Ethnicity; D005260:Female; D005799:Genes, Dominant; D006548:Hernia, Diaphragmatic / Q000235:genetics*; D006551:Hernia, Hiatal / Q000235:genetics*; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009216:Myopia / Q000235:genetics*; D010375:Pedigree; D010437:Peptic Ulcer / Q000235:genetics*; D010641:Phenotype; D010859:Pigmentation Disorders / Q000235:genetics*; D011792:Quebec; D013577:Syndrome