multiple pterygium-malignant hyperthermia syndrome
MeSH: C565679ORPHA: 2215
Available Treatments (0)
No treatments linked yet
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Clinical Presentation
Signs and symptoms associated with multiple pterygium-malignant hyperthermia syndrome, sourced from HPO and Orphanet clinical annotations.
Abnormal mandible morphologyMask-like faciesFacial asymmetryLong philtrumPosteriorly rotated earsWebbed neckTapered fingerPlagiocephalyTalipes equinovarusMetatarsus adductusScoliosisArthrogryposis multiplex congenitaSkeletal muscle atrophyProminent metopic ridgeCongenital muscular torticollisUlnar deviation of fingerCamptodactyly of fingerCryptorchidismSmall scrotumNarrow mouthCleft palateConductive hearing impairmentProminent nasal bridgeDownslanted palpebral fissuresPtosisHypotelorismPectus excavatumArachnodactylyHypernasal speechMalignant hyperthermiaDownturned corners of mouthSevere short statureWide intermamillary distanceAmniotic constriction ringLong palmProminence of the zygomatic boneAbnormal circulating aldolase concentrationAbnormal circulating creatine kinase concentrationAbnormal circulating lactate dehydrogenase concentrationInguinal herniaBroad alveolar ridgesDolichocephalyFull cheeksSloping foreheadProptosisAbnormal rib morphologyHypotoniaPrenatal movement abnormalityPolyhydramniosHypoplastic fingernailHyperconvex fingernailsDyspneaExaggerated cupid's bowKyphosisCapillary hemangiomaFinger syndactylyAdvanced eruption of teethRidged fingernailNaevus flammeus of the eyelidMidface retrusionOnychogryphosis of fingernailHemiatrophyFingernail dysplasia
Classification & Codes
MeSH Code
C565679Orphanet Code
ORPHA:2215multiple pterygium-malignant hyperthermia syndrome
| MeSH | C565679 |
| Orphanet | ORPHA:2215 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO