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.
MONDO:0015501
obsolete syndrome or malformation associated with head and neck malformations (obsolete MONDO:0015501)
excluded_subClassOf
MONDO:0015168
arthrogryposis multiplex congenita
is_a
Illum syndrome
exact
arthrogryposis multiplex congenita whistling face
related
arthrogryposis, whistling face, and developmental retardation
related
lethal autosomal recessive arthrogryposis multiplex congenita with whistling face and calcifications of the nervous system
related