Crisponi syndrome (Q85070): Difference between revisions

@@ description / pt-br / description / pt-br @@
+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.
@@ Property / Canonical URI @@
+https://id.who.int/icd/entity/1658600991
@@ Property / Canonical URI: https://id.who.int/icd/entity/1658600991 / rank @@
+Normal rank
@@ Property / CURIE @@
+CID11:ID_1658600991
@@ Property / CURIE: CID11:ID_1658600991 / rank @@
+Normal rank
@@ Property / Canary Token @@
+dki-india-ID_1658600991
@@ Property / Canary Token: dki-india-ID_1658600991 / rank @@
+Normal rank
@@ Property / Verification Status @@
+Concluído
@@ Property / Verification Status: Concluído / rank @@
+Normal rank
@@ Property / Knowledge Architect @@
+https://pauloleads.com.br/cases-publicos/
+Normal rank
@@ Property / Collection date @@
+August 2026Timestamp +2026-08-13T00:00:00Z
Timezone +00:00
Calendar Gregorian
Precision 1 day
Before 0
After 0
-Timestamp
++2026-08-13T00:00:00Z
-Timezone
++00:00
-Calendar
+Gregorian
-Precision
+day
 Before
 After
@@ Property / Collection date: 13 August 2026 / rank @@
+Normal rank

Latest 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
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.