Genetics of acheiropodia (the handless and footless families of Brazil). IX. Genetic counseling.
Acheiropodia offers no special problem of a counseling nature. The genetic risk can be easily estimated since the anomaly is due to a rare autosomal recessive gene with complete penetrance and little variation in expression. However, considering that acheiropod individuals have a tremendous handicap (they are born without both hands and feet), it is remarkable how they overcome this difficulty and lead an almost 'normal' life. Several examples are given in this paper. The 'philosophy' of genetic counseling is briefly discussed; emphasis is placed upon the necessity for the geneticist to present the good perspectives, while preparing the consultand for the worst. Even in this last possibility, however, not everything is necessarily lost as the example of the acheiropods attests.
D000015:Abnormalities, Multiple / Q000235:genetics*; D000203:Activities of Daily Living; D000328:Adult; D001938:Brazil; D004185:Disability Evaluation; D006233:Persons with Disabilities; D005260:Female; D005532:Foot Deformities, Congenital; D005817:Genetic Counseling; D006228:Hand Deformities, Congenital; D006801:Humans; D008297:Male