Arthrogryposis multiplex congenita-whistling face syndrome

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Arthrogryposis multiplex congenita-whistling face syndrome

Synonyms: Illum syndrome

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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version February 2024

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