Brachydactyly-long thumb syndrome (Q105606): Difference between revisions
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Síndrome da braquidactilia-polegar comprido é um transtorno genético muito raro caracterizado por dedos encurtados (braquidactilia) e polegar anormalmente comprido, além de outras manifestações como rigidez articular e possíveis anormalidades cardíacas. É uma condição autossômica dominante, o que significa que uma criança precisa apenas de uma cópia do gene mutado de um dos pais para herdar a síndrome. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Brachydactyly-long thumb syndrome is a very rare genetic disorder characterized by shortened fingers (brachydactyly) and an abnormally long thumb, alongside other features like joint stiffness and potential heart abnormalities. It is an autosomal dominant condition, meaning a child only needs one copy of the mutated gene from a parent to inherit the syndrome. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1621041627 / rank | |||||||||||||||
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CID11:ID_1621041627 | |||||||||||||||
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dki-india-ID_1621041627 | |||||||||||||||
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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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| Property / Collection date: 16 August 2026 / rank | |||||||||||||||
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Latest revision as of 11:56, 17 August 2026
Brachydactyly-long thumb syndrome is a very rare genetic disorder characterized by shortened fingers (brachydactyly) and an abnormally long thumb, alongside other features like joint stiffness and potential heart abnormalities. It is an autosomal dominant condition, meaning a child only needs one copy of the mutated gene from a parent to inherit the syndrome.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1621041627 |
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| English | Brachydactyly-long thumb syndrome |
Brachydactyly-long thumb syndrome is a very rare genetic disorder characterized by shortened fingers (brachydactyly) and an abnormally long thumb, alongside other features like joint stiffness and potential heart abnormalities. It is an autosomal dominant condition, meaning a child only needs one copy of the mutated gene from a parent to inherit the syndrome. |
Statements
CID11:ID_1621041627
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dki-india-ID_1621041627
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Concluído
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16 August 2026
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