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Multiple pterygium-malignant hyperthermia syndrome

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Disease definition

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.

ORPHA:2215

Classification level: Disorder

Synonym(s):
  • Froster-Iskenius-Waterson-Hall syndrome
  • Malignant hyperthermia-arthrogryposis-torticollis syndrome

Source: PubMed ID 3346884

Prevalence: <1 / 1 000 000

Inheritance: Autosomal recessive

Age of onset: Neonatal

ICD-10: G71.8

OMIM: 217150

UMLS: C4304748

GARD: 3361

A summary on this disease is available in Français (2015) Español (2015) Deutsch (2006) Nederlands (2015)
Detailed information
Guidelines
Anesthesia guidelines
Deutsch (2011) - Orphananesthesia
English (2019) - Orphananesthesia
Español (2018) - Orphananesthesia
Čeština (2019) - Orphananesthesia
Português (2019) - Orphananesthesia

Logo ERN: produced/endorsed by ERN(s) Logo FSMR: produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Newborn screening

The documents contained in this website are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.