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Arthrogryposis multiplex congenita-whistling face syndrome
Disease definition
An extremely rare type of arthrogryposis multiplex congenita characterized by the combination of multiple joint contractures with movement limitation, microstomia with a whistling appearance of the mouth that may cause feeding, swallowing, and speech difficulties, a distinctive expressionless facies, severe developmental delay, central and autonomous nervous system dysfunction (excessive salivation, temperature instability, myoclonic epileptic fits, bradycardia), occasionally Pierre-Robin sequence, and lethality generally occurring during the first months of life. Arthrogryposis multiplex congenita-whistling face syndrome has been suggested to be a fetal akinesia deformation sequence.
ORPHA:1150
Classification level: DisorderDetailed information
Professionals
- Anesthesia guidelines
- Deutsch (2011)
- Czech (2019)
- English (2019)
- Português (2019)
- Español (2018)
- Clinical practice guidelines
- Français (2021)
Additional information