Young-Simpson syndrome (Q106075): Difference between revisions
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CID11:ID_1678403283 | |||||||||||||||
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dki-india-ID_1678403283 | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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16 August 2026
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Latest revision as of 12:51, 17 August 2026
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.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1678403283 |
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| English | Young-Simpson syndrome |
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. |
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CID11:ID_1678403283
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dki-india-ID_1678403283
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Concluído
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16 August 2026
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