(formerly: Schwartz-Jampel type 2)

Rare, autosomal recessive transmission of a mutation in the LIFR gene (leukemia inhibitory factor receptor)  located on chromosome 5p13.1. Bone dysplasia with short stature and congenital bowing of long bones. Camptodactyly. Facial dysmorphism. Frequent episodes of hyperthermia. Frequent deaths in the neonatal period following respiratory distress, swallowing disorders, hypotonia. Sometimes, micrognathia, hypertelorism. Later: scoliosis, spontaneous fractures, absence of corneal and patellar reflex, signs of dysautonomia (thermal instability, sweating, decreased pain threshold ?).

A few cases associated with a mitochondrial disease.

Anesthetic implications:

no risk of malignant hyperthermia. Monitoring of the temperature. Eye protection.

References : 

• Bonthuis D, Morava E, Booij LHDJ, Driessen JJ. 
  Stuve Wiedemann syndrome and related syndromes : case report and possible anesthetic implications.
  Pediatr Anesth 2009; 19: 212-7.

Upadated: September 2018