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multiple pterygium-malignant hyperthermia syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple pterygium-malignant hyperthermia syndrome

MONDO:0009012

Also known as:froster-Iskenius-Waterson-Hall syndromemalignant hyperthermia-arthrogryposis-torticollis syndromecontractures, congenital, torticollis, and malignant hyperthermia

Overview

Malignant hyperthermia-arthrogryposis-torticollisis 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.

GeneticsAutosomal recessive

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Malignant hyperthermia, Torticollis, Cleft palate, and Abnormal mandible morphology and 2 more.

Organ System	Phenotype Count	Example Features
Head and neck	2	Cleft palate, Abnormal mandible morphology
Muscles

Diagnosis

Biomarker and diagnostic research for multiple pterygium-malignant hyperthermia syndrome has been reported in the published literature.

Prognosis

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for multiple pterygium-malignant hyperthermia syndrome.

318 publications have been identified in PubMed for multiple pterygium-malignant hyperthermia syndrome. Research spans Review / Meta-Analysis (53%), Case Report / Case Series (15%), and Basic Science / Preclinical (11%).

Research Type	Count	% of Total
Research summaries	168	53%

Data assembled from 5 of 12 sources · Last updated Sep 20, 2026, 3:05 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:217150

Orphanet

European rare disease database

Orphanet:2215

GARD

Genetic and Rare Diseases Info Center

GARD:3361

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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multiple pterygium-malignant hyperthermia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications

multiple pterygium-malignant hyperthermia syndrome

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications