Crisponi syndrome (Q85070)
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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 |
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| 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. |
