{"entities":{"Q106075":{"pageid":96472,"ns":120,"title":"Item:Q106075","lastrevid":613684,"modified":"2026-08-17T12:51:47Z","type":"item","id":"Q106075","labels":{"mul":{"language":"mul","value":"ID_1678403283"},"pt-br":{"language":"pt-br","value":"S\u00edndrome de Young-Simpson"},"en":{"language":"en","value":"Young-Simpson syndrome"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Esta s\u00edndrome \u00e9 caracterizada pela associa\u00e7\u00e3o de hipotireoidismo cong\u00eanito, dismorfismo facial (microcefalia, blefarofimose, nariz bulboso, l\u00e1bio fino, orelhas de implanta\u00e7\u00e3o baixa e micrognatia), polidactilia p\u00f3s-axial e d\u00e9ficit intelectual grave. Menos de 20 casos j\u00e1 foram relatados. Criptorquidia est\u00e1 presente em homens afetados. Alguns pacientes apresentam anomalias card\u00edacas (comunica\u00e7\u00e3o interventricular), hipotonia e atraso de crescimento. Heran\u00e7a autoss\u00f4mica recessiva tem sido sugerida."},"en":{"language":"en","value":"This syndrome is characterised by the association of congenital hypothyroidism, facial dysmorphism (microcephaly, blepharophimosis, a bulbous nose, thin lip, low-set ears and micrognathia), postaxial polydactyly and severe intellectual deficit. Less than 20 cases have been reported so far. Cryptorchidism is present in affected males. Some patients also have cardiac anomalies (interventricular communication), hypotonia and growth delay. Autosomal recessive inheritance has been suggested."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"d286588e2ec59f100ffa570c853908e76a0392fd","datavalue":{"value":"https://id.who.int/icd/entity/1678403283","type":"string"},"datatype":"url"},"type":"statement","id":"Q106075$2788FE75-681F-4EB9-A78E-DBCF9C78DDA7","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"602e5532729f84c1f44e12dea18083788e16f752","datavalue":{"value":"CID11:ID_1678403283","type":"string"},"datatype":"string"},"type":"statement","id":"Q106075$CF11BF52-9404-40CE-85F3-BAF5959AACD8","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"756ec45a097f28995a716f709117b3e55319d269","datavalue":{"value":"dki-india-ID_1678403283","type":"string"},"datatype":"string"},"type":"statement","id":"Q106075$5CD7B04F-68A9-44AA-9ED9-CE91C57263CB","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q106075$41949136-6472-43EC-8518-E8828627D772","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q106075$DD8342B1-8E62-463A-95EE-600F2BF8A4D6","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q106075$6DBE70C7-FC8E-4D46-997A-6027BF5B1E53","rank":"normal"}]},"sitelinks":{}}}}