Multiple pterygium-malignant hyperthermia syndrome

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Synonyms: Froster-Iskenius-Waterson-Hall syndrome | Malignant hyperthermia-arthrogryposis-torticollis syndrome

An extremely rare arthrogryposis syndrome described in only two pairs of siblings from two unrelated families to date and characterized by the association of arthrogryposis congenital torticollis dysmorphic facial features (i.e. asymmetry of the face myopathic facial movements ptosis posteriorly rotated ears cleft palate) progressive scoliosis and episodes of malignant hyperthermia. There have been no further descriptions in the literature since 1988.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version June 2024

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