Multiple pterygium-malignant hyperthermia syndrome
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 http://www.orphadata.org. Data version April 2024
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Multiple pterygium-malignant hyperthermia syndrome?
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Advocacy Organizations
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
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Curing single-gene disorders
Project CASK
To fund research for treatment and/or a cure for CASK Gene Disorder
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
ZC4H2 Research Foundation
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Clinical Trials
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