Arthrogryposis multiplex congenita-whistling face syndrome

Arthrogryposis multiplex congenita-whistling face syndrome is 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.

Also known as: Illum syndrome, ILLUM syndrome, arthrogryposis multiplex congenita whistling face, arthrogryposis, whistling face, and developintellectual disability, arthrogryposis, whistling face, and developmental retardation, lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system

5 clinical trials for this condition and its sub-types.