Dominantly inherited syndrome of microcephaly and cleft palate.
Two sisters and their mother had a syndrome of microcephaly, cleft palate, and variable anomalies such as unusual facial appearance, hypotelorism, abnormal retinal pigmentation, maxillary hypoplasia, goiter, camptodactyly, mild mental retardation, and abnormal dermatoglyphics. This is an evidently dominantly inherited trait, either autosomal or X-linked.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002972:Cleft Palate / Q000235:genetics*; D003878:Dermatoglyphics; D005145:Face / Q000002:abnormalities; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008437:Maxilla / Q000002:abnormalities; D008831:Microcephaly / Q000235:genetics*; D010375:Pedigree; D010857:Pigment Epithelium of Eye / Q000002:abnormalities; D013577:Syndrome