A family with oculodentodigital dysplasia.
Three members of a family present definite features of the oculodentodigital (ODD) dysplasia and one presents only a few features. The mother shows no clinical evidence of the syndrome but does have an isolated cleft of the palate. The syndrome is compatible with Mendelian autosomal dominant inheritance with father-to-son transmission. The variable expression of the gene in the three affected members is clearly demonstrable.
D000328:Adult; D000567:Amelogenesis Imperfecta / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D008663:Metacarpus / Q000002:abnormalities*; D010375:Pedigree; D013577:Syndrome