/arthrogryposis multiplex congenita-whistling face syndrome

arthrogryposis multiplex congenita-whistling face syndrome

Rare Disease

MONDO:0008825

Also Known As

Illum syndromeILLUM syndromearthrogryposis multiplex congenita whistling facearthrogryposis, whistling face, and developintellectual disabilityarthrogryposis, whistling face, and developmental retardationlethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system

Definition

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.