{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T17:40:10Z","timestamp":1787161210230,"version":"build-2736575974"},"reference-count":11,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2005,6,3]],"date-time":"2005-06-03T00:00:00Z","timestamp":1117756800000},"content-version":"vor","delay-in-days":7307,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>We describe an attempt to measure effects of Mendelian phenotypes on human health (homeostasis) in man. We used the McKusick Catalogs as the source for descriptions of autosomal dominant, recessive, and X\u2010linked phenotypes. Three hundred and fifty one entries (76% of the initial sample) were disadaptive causing an impairment, disability, or handicap. (Terms used are in accordance with World Health Organization (WHO) definitions.) Phenotypic effects were scored to measure impact on life\u2010span, reproductive capability, and psychosocial characteristics. We found 1) 25% of the disadaptive Mendelian phenotypes were apparent at birth and over 90% by the end of puberty; age at onset is unimodal in distribution for autosomal recessive and X\u2010linked diseases, and trimodal for autosomal dominant (with modes during morphogenesis, infancy, and early adult life); 2) 58% of phenotypes involved more than one anatomical or functional system; autosomal dominants were more likely to involve only a single system; 3) life\u2010span was reduced in 57%, particularly in those with onset in pre\u2010 or intra\u2010reproductive life, and more often in recessive and X\u2010linked diseases (data corrected for genetic lethals); prognosis varied with system involvement; 4) reproductive capability was impaired in 69% of phenotypes; and 5) most phenotypes compatible with life beyond infancy caused psychosocial handicap and limited the access to schooling and work. These findings have implications for medical care.<\/jats:p>","DOI":"10.1002\/ajmg.1320210205","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T09:24:51Z","timestamp":1118481891000},"page":"231-242","source":"Crossref","is-referenced-by-count":96,"title":["The effect of Mendelian disease on human health: A measurement"],"prefix":"10.1002","volume":"21","author":[{"given":"Teresa","family":"Costa","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles R.","family":"Scriver","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Barton","family":"Childs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John M.","family":"Opitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Reynolds","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,6,3]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"189","volume-title":"Handbook of Teratology","author":"Carr DH","year":"1977"},{"key":"e_1_2_1_3_1","first-page":"65","article-title":"Changing patterns in the causes of death at the Hospital for Sick Children","volume":"11","author":"Carter CO","year":"1956","journal-title":"Great Ormond Street J"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.ge.16.120182.001553"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010405"},{"key":"e_1_2_1_6_1","volume-title":"Mendelian Inheritance in Man. Catalogs of Autosomal Dominant, Autosomal Recessive, and X\u2010Linked Phenotypes","author":"McKusick VA","year":"1978"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198309083091004"},{"key":"e_1_2_1_8_1","volume-title":"Statistical Package for the Social Sciences","author":"Nie NH","year":"1975"},{"key":"e_1_2_1_9_1","first-page":"1","article-title":"Spontaneous abortion A study of 1961 women and their conceptuses","volume":"102","author":"Poland BJ","year":"1981","journal-title":"Acta Obstet and Gynecol Scand (Suppl)"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.45.239.33"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80261-8"},{"key":"e_1_2_1_12_1","first-page":"1","volume-title":"International Classification of Impairments, Disabilities, and Handicaps","author":"World Health Organization","year":"1980"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320210205","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320210205","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T17:39:45Z","timestamp":1697823585000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320210205"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,6]]},"references-count":11,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1985,6]]}},"alternative-id":["10.1002\/ajmg.1320210205"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320210205","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,6]]}}}