Crisponi syndrome (Q85070): Difference between revisions
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A síndrome de Crisponi é uma doença grave caracterizada por contrações musculares ao nascimento, hipertermia intermitente, anormalidades faciais e camptodactilia. Extensas contrações musculares paroxísticas na face (semelhantes ao tétano neonatal) se desenvolvem após estímulos mínimos. Contrações frequentes dos músculos orofaríngeos associadas à ausência do reflexo de deglutição levam a grandes dificuldades respiratórias e alimentares. | |||
| description / en | description / en | ||
Crisponi syndrome is a severe disorder characterised by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties. | |||
Revision as of 10:25, 15 August 2026
Crisponi syndrome is a severe disorder characterised by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_1658600991 |
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| English | Crisponi syndrome |
Crisponi syndrome is a severe disorder characterised by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly. Extensive paroxysmal muscular contractions in the face (resembling neonatal tetanus) develop after minimal stimuli. Frequent contractions of the oropharyngeal muscles associated with absence of the swallowing reflex lead to major feeding and respiratory difficulties. |
