Ectodermal dysplasia, mental retardation, cleft lip/palate and other anomalies in three sibs.
Three females in a sibship of 10 have a syndrome of mental retardation, ectodermal dysplasia, and cleft lip and/or cleft palate. Inconstant features are congenital skin defects, areas of hyperpigmentation, congenital adhesions between the eyelids, cicatricial atrophy of the scalp, abnormal E.E.G., partial anodontia, genital hypoplasia, syndactyly, and delayed skeletal growth and maturation. The mode of inheritance could be either dominant with incomplete penetrance, or autosomal recessive. The disorder has overlapping features with several previously delineated syndromes but in view of certain novel features its relationship to these is uncertain.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000848:Anodontia / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000235:genetics*; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006130:Growth Disorders / Q000235:genetics; D006197:Hair / Q000002:abnormalities; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics*; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome