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%. | |||
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 |
||
| 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%. |
