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Arthrogryposis multiplex congenita - whistling face

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

Summary

This syndrome is an extremely rare disorder characterized in newborns by arthrogryposis multiplex congenita with scarce face expressions (whistling face), severe developmental delay, and central nervous system and autonomous nervous system dysfunction (excessive salivation, temperature instability, apnea, myoclonic epileptic fits and bradycardia). Less than ten cases have been described. Extensive deposits of calcium compounds in the nervous system and skeletal muscle have been observed in several patients from the same family. Pierre-Robin sequence was also found in half of the cases. An autosomal recessive mode of inheritance is likely. Death generally arises in the first months of life.

Expert reviewer(s)

  • Dr Juliette ALBUISSON

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Detailed information

Anesthesia guidelines
  • EN (2011,pdf)
  • DE (2011,pdf)
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