The syndrome of ankyloblepharon, ectodermal defects and cleft lip and palate: an autosomal dominant condition.
Seven patients from four families are reported who had an inherited condition of which the main features were ankyloblepharon, ectodermal defects and cleft lip and palate. The ectodermal defects were partial or complete hair loss, absent or dystrophic nails, pointed widely spaced teeth and partial anhidrosis. Associated anomalies included lacrimal duct atresia, supernumerary nipples, syndactyly and auricular deformities. The inheritance of this abnormality was consistent with that of an autosomal dominant trait. The relationship between this and similar syndromes is discussed.
D000328:Adult; D000505:Alopecia / Q000235:genetics; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities*; D005260:Female; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007007:Hypohidrosis / Q000235:genetics; D007223:Infant; D008297:Male; D009264:Nails, Malformed / Q000235:genetics; D010375:Pedigree; D013577:Syndrome; D014071:Tooth Abnormalities / Q000235:genetics