Autosomal dominant inheritance of scalp defects with ectrodactyly.
Nine members of four generations of a kindred had an autosomal dominant syndrome in which congenital scalp defects were associated with abnormalities of the hands and feet. Radiographically apparent, circumscribed defects of the skull were an additional inconsistent feature. Genetic counseling is made difficult by varying phenotypic expression of the gene.
D000293:Adolescent; D000328:Adult; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012535:Scalp / Q000002:abnormalities*; D013577:Syndrome