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Arthrogryposis multiplex congenita - whistling face

ORPHA1150
Synonym(s) Illum syndrome
Prevalence <1 / 1 000 000
Inheritance Autosomal recessive
Age of onset Neonatal
ICD-10
  • Q87.8
OMIM
UMLS
  • C1859711
MeSH
  • C538401
MedDRA -

Summary

Arthrogryposis multiplex congenita - whistling face, also known as Illum syndrome, is an extremely rare type of arthrogryposis multiplex congenita (see this term) characterized by the combination of multiple joint contractures with movement limitation with 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. An autosomal recessive mode of inheritance is likely. Arthrogryposis multiplex congenita - whistling face has been suggested to be a fetal akinesia deformation sequence (see this term).


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