Living with Multiple pterygium-malignant hyperthermia syndrome
An extremely rare condition with stiff joints from birth, facial differences, a curved spine, and a risk of high fever episodes.
Understanding Multiple pterygium-malignant hyperthermia syndrome
This condition has been described in only two pairs of siblings from two unrelated families. It involves joints that are fixed in bent positions (arthrogryposis), a tilted neck, facial differences, and a curved spine that gets worse over time. People can have episodes of malignant hyperthermia (a sudden, severe rise in body temperature). Symptoms start at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Joints fixed in bent positions (arthrogryposis)
- Cleft palate
- Drooping eyelid (ptosis)
- Club feet
- Hearing loss (conductive)
- Face that is not the same on both sides
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, brain and nervous system specialists, ear, nose, and throat specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
World Craniofacial Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Ear, nose, and throat specialists (otolaryngologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: World Craniofacial Foundation
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Malignant Hyperthermia Association of the United States and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in genes cause this condition. A child inherits a changed copy of a gene from each parent (autosomal recessive).
Also known as: contractures, congenital, torticollis, and malignant hyperthermia; froster-iskenius-waterson-hall syndrome; malignant hyperthermia arthrogryposis torticollis; malignant hyperthermia-arthrogryposis-torticollis syndrome
Patient organizations
- Malignant Hyperthermia Association of the United StatesMultiple pterygium-malignant hyperthermia syndrome · United States
- World Craniofacial FoundationCraniofacial anomalies · United States
- Children's Craniofacial AssociationCraniofacial anomalies · United States
- FACES: The National Craniofacial AssociationCraniofacial anomalies · United States
- myFaceCraniofacial anomalies · United States
You are more than your diagnosis
Perspectives from people navigating life with Multiple pterygium-malignant hyperthermia syndrome.
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