Pfeiffer syndrome (Q46572): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | LD24.G0 |
||
| 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. |
