The lacrimo-auriculo-dento-digital syndrome.
A mother and son had an autosomal-dominant malformation syndrome that included absence of the lacrimal puncta, obstruction of the nasolacrimal ducts, hearing loss, poor dentition, and abnormal thumbs. The son also had severe hypertension with renal anomalies and absence of several salivary glands. Affected members of the only other reported family also had cup-shaped ears and synostosis of the radius and ulna. Early recognition of this disorder is important because of the possibility that the affected infant may have hearing loss and kidney malformations.
D000015:Abnormalities, Multiple; D000328:Adult; D004431:Ear, External / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006311:Hearing Disorders / Q000235:genetics; D006801:Humans; D007767:Lacrimal Duct Obstruction / Q000235:genetics*; D008297:Male; D012469:Salivary Glands / Q000002:abnormalities; D013577:Syndrome; D014076:Tooth Diseases / Q000235:genetics*