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.
Last update: February 2005