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GENATLAS PHENOTYPE
last update : 26-08-2016
Symbol MCTHS
Location 19p13.11
Name muscular contraction, trismus, hyperthermia syndrome
Other name(s)
  • Crisponi syndrome
    • Corresponding gene CRLF1
    Other symbol(s) CISS1
    Main clinical features
  • marked muscular contraction of the facial muscles in response to tactile stimuli or during crying, with trismus and abundant salivation simulating a tetanic spasm
  • neck muscle hypertonia with a tendency to opisthotonos, facial anomalies such as large face, chubby cheeks, broad nose with anteverted nostrils, and long philtrum, and showed bilateral camptodactyly
  • marked feeding difficulties and appearance of variable fever at about 38 degrees centigrade, with peaks of irregular hyperthermia of over 42 degrees centigrade, with onset ranging from birth to a few weeks, generalized seizures and early death
    • Genetic determination autosomal recessive
    Related entries CNTF receptor related disorders
    Function/system disorder neuromuscular
    Type disease
    Remark(s)
    Genotype/Phenotype correlations
  • nonsense mutations are associated with the severe neonatal manifestations of Crisponi syndrome and missense mutations are associated with late-onset CISS1