ADULT-syndrome: an autosomal-dominant disorder with pigment anomalies, ectrodactyly, nail dysplasia, and hypodontia.
We describe a family with at least seven living persons who are affected by an hitherto undescribed autosomal-dominant syndrome with variable expression, bearing close resemblance to the EEC syndrome and related disorders. The main manifestations are hypodontia and/or early loss of permanent teeth, ectrodactyly, obstruction of lacrimal ducts, onychodysplasia, and excessive freckling. We propose the acronym ADULT (acro-dermato-ungual-lacrimal-tooth)-syndrome for this condition.
Propping
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Institut für Humangenetik, Universität Bonn, Germany.
Zerres
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D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D000848:Anodontia / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D004476:Ectodermal Dysplasia / Q000235:genetics; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009264:Nails, Malformed; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D016388:Tooth Loss / Q000235:genetics