A dominantly inherited congenital anomaly syndrome with blepharophimosis.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis; D025063:Chromosome Disorders; D005141:Eyelid Diseases / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype; D013577:Syndrome