A rare syndrome characterized by multiple joint contractures at birth, hyperthermia and twisting of neck muscles.
- Torticollis at birth - Progressive scoliosis - Dysmorphic facial features - Multiple joint contractures - Cleft palate - Abnormal webbing inside mouth - Inability to fully open mouth - Muscle problems - Long thin fingers - Permanent flexion of some fingers - Downturned mouth - Premature tooth eruption - Malignant hyperthermia - Deafness
Rapid temperature increases occur at a rate of about 2º F (1.1° C) every 15 minutes to as high as 109.4° F (43° C). Usually the rise is preceded by skeletal muscle rigidity, cardiac arrhythmia, tachycardia, and tachypnea. The patient’s history will include exposure to inhalant anesthesia, particularly halothane, or muscle relaxants, particularly succinylcholine, which can trigger malignant hyperthermia in patients with the inherited trait. Other predicting factors in susceptible persons include trauma, exercise, exposure to high environmental temperatures, and infection.