Apert syndrome (Q46632): Difference between revisions
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A síndrome de Apert é uma craniossinostose sindrômica associada a mutações no gene FGFR2 e caracterizada por fechamento prematuro da sutura coronal e início tardio de pansinostose. Patognomônico é uma sindactilia óssea e membranosa de pelo menos Digitus II-IV (dedos das mãos e dos pés). Alta incidência de hipoplasia da face média com estenose orbitária e facial, fenda palatina, fusão vertebral. Déficits intelectuais em 30%. | |||||||||||||||
| description / en | description / en | ||||||||||||||
Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital and facial stenosis, cleft palate, vertebral fusion. Mental deficits in 30%. | |||||||||||||||
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| Property / Canonical URI: https://id.who.int/icd/entity/1962779847 / rank | |||||||||||||||
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CID11:LD24.G2 | |||||||||||||||
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dki-india-LD24.G2 | |||||||||||||||
| Property / Canary Token: dki-india-LD24.G2 / rank | |||||||||||||||
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Concluído | |||||||||||||||
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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 I391 / rank | |||||||||||||||
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Latest revision as of 15:21, 13 August 2026
Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital and facial stenosis, cleft palate, vertebral fusion. Mental deficits in 30%.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.G2 |
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| English | Apert syndrome |
Apert syndrome is a syndromic craniosynostosis associated with mutations in the FGFR2 gene and characterised by premature closure of coronal suture and a later onset of pansynostosis. Pathognomonic is an osseous and membranous syndactyly of at least Digitus II-IV (fingers and toes). High incidence of midface hypoplasia with orbital and facial stenosis, cleft palate, vertebral fusion. Mental deficits in 30%. |
Statements
CID11:LD24.G2
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dki-india-LD24.G2
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Concluído
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13 August 2026
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