multiple pterygium-malignant hyperthermia syndrome
Findings
No curated finding names multiple pterygium-malignant hyperthermia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009012), read 2026-09-29. CC BY 4.0.
Features
63 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal mandible morphologyHPOHP:0000277
- Very frequent (80% to 99% of cases)
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- Congenital muscular torticollisHPOHP:0005988
- Very frequent (80% to 99% of cases)
- Facial asymmetryHPOHP:0000324
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
Show the remaining 51
- Skeletal muscle atrophyHPOHP:0003202
- Very frequent (80% to 99% of cases)
- Talipes equinovarusHPOHP:0001762
- Very frequent (80% to 99% of cases)
- Tapered fingerHPOHP:0001182
- Very frequent (80% to 99% of cases)
- Ulnar deviation of fingerHPOHP:0009465
- Very frequent (80% to 99% of cases)
- Webbed neckHPOHP:0000465
- Very frequent (80% to 99% of cases)
- Abnormal circulating aldolase concentrationHPOHP:0012400
Where it sits
Other names
2 names
Resolves to: multiple pterygium-malignant hyperthermia syndrome
- Also called
- froster-Iskenius-Waterson-Hall syndromemalignant hyperthermia-arthrogryposis-torticollis syndrome