Arthrogryposis multiplex congenita with whistling face (Q85057): Difference between revisions

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Latest revision as of 10:25, 15 August 2026

Arthrogryposis multiplex congenita with whistling face is an extremely rare disorder characterised in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnoea, myoclonic epileptic fits and bradycardia).

Language	Label	Description	Also known as
default for all languages	ID_210291070
English	Arthrogryposis multiplex congenita with whistling face	Arthrogryposis multiplex congenita with whistling face is an extremely rare disorder characterised in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnoea, myoclonic epileptic fits and bradycardia).