Pfeiffer syndrome (Q46572): Difference between revisions
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A síndrome de Pfeiffer (associada a mutações no gene FGFR1 e 2) é uma forma sindrômica de craniossinostose caracterizada pela associação de craniossinostose. Freqüentemente, pansinostose. Hipoplasia grave da face média. Polegares e háluces largos e desviados e sindactilia parcial dos dedos das mãos e dos pés. A hidrocefalia pode ser encontrada ocasionalmente, junto com proptose ocular grave, cotovelos anquilosados. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Pfeiffer syndrome (associated with mutations in the FGFR1 and 2 gene) is a syndromic form of craniosynostosis characterised by the association of craniosynostosis. Often pansynostosis. Severe midface hypoplasia. Broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1075159878 / rank | |||||||||||||||
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CID11:LD24.G0 | |||||||||||||||
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dki-india-LD24.G0 | |||||||||||||||
| Property / Canary Token: dki-india-LD24.G0 / rank | |||||||||||||||
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| Property / Verification Status: Concluído / rank | |||||||||||||||
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| Property / Knowledge Architect: https://pauloleads.com.br/cases-publicos/ / rank | |||||||||||||||
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13 August 2026
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| Property / Collection date: 13 August 2026 / rank | |||||||||||||||
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| Property / Linked ICD 10: ICD I470 / rank | |||||||||||||||
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Latest revision as of 15:14, 13 August 2026
Pfeiffer syndrome (associated with mutations in the FGFR1 and 2 gene) is a syndromic form of craniosynostosis characterised by the association of craniosynostosis. Often pansynostosis. Severe midface hypoplasia. Broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows.
| Language | Label | Description | Also known as |
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| default for all languages | LD24.G0 |
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| English | Pfeiffer syndrome |
Pfeiffer syndrome (associated with mutations in the FGFR1 and 2 gene) is a syndromic form of craniosynostosis characterised by the association of craniosynostosis. Often pansynostosis. Severe midface hypoplasia. Broad and deviated thumbs and big toes, and partial syndactyly of the fingers and toes. Hydrocephaly may be found occasionally, along with severe ocular proptosis, ankylosed elbows. |
Statements
CID11:LD24.G0
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dki-india-LD24.G0
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Concluído
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13 August 2026
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