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Disease Profile

Malignant hyperthermia arthrogryposis torticollis

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Neonatal

ICD-10

G71.8

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Froster-Iskenius-Waterson syndrome; Malignant hyperthermia arthrogryposis torticollis

Categories

Congenital and Genetic Diseases; Ear, Nose, and Throat Diseases; Mouth Diseases;

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 2215

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.

Visit the Orphanet disease page for more resources.

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormality of the mandible
Abnormality of the lower jaw bone
0000277
Arthrogryposis multiplex congenita
0002804
Camptodactyly of finger
Permanent flexion of the finger
0100490
Congenital muscular torticollis
0005988
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face

[ more ]

0000324
Long philtrum
0000343
Mask-like facies
Expressionless face
Lack of facial expression
Mask-like facial appearance

[ more ]

0000298
Metatarsus adductus
Front half of foot turns inward
0001840
Plagiocephaly
Flat head syndrome
Flattening of skull
Rhomboid shaped skull

[ more ]

0001357
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Prominent metopic ridge
0005487
Scoliosis
0002650
Skeletal muscle atrophy
Muscle degeneration
Muscle wasting

[ more ]

0003202
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot

[ more ]

0001762
Tapered finger
Tapered fingertips
Tapering fingers

[ more ]

0001182
Ulnar deviation of finger
Finger bends toward pinky
0009465
Webbed neck
Neck webbing
0000465
30%-79% of people have these symptoms
Abnormal aldolase level
0012400
Abnormal circulating creatine kinase concentration
Abnormal levels of creatine kinase in blood
0040081
Abnormal lactate dehydrogenase level
0045040
Amniotic constriction ring
0009775
Arachnodactyly
Long slender fingers
Spider fingers

[ more ]

0001166
Cleft palate
Cleft roof of mouth
0000175
Conductive hearing impairment
Conductive deafness
Conductive hearing loss

[ more ]

0000405
Cryptorchidism
Undescended testes
Undescended testis

[ more ]

0000028
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
Downturned corners of mouth
Downturned corners of the mouth
Downturned mouth

[ more ]

0002714
Hypotelorism
Abnormally close eyes
Closely spaced eyes

[ more ]

0000601
Long palm
0011302
Malignant hyperthermia
0002047
Narrow mouth
Small mouth
0000160
Nasal speech
Nasal voice
0001611
Pectus excavatum
Funnel chest
0000767
Prominence of the zygomatic bone
Prominence of cheekbone
Pronounced cheekbone

[ more ]

0012370
Prominent nasal bridge
Elevated nasal bridge
High nasal bridge
Prominent bridge of nose
Prominent nasal root
Protruding bridge of nose
Protruding nasal bridge

[ more ]

0000426
Ptosis
Drooping upper eyelid
0000508
Scrotal hypoplasia
Smaller than typical growth of scrotum
0000046
Severe short stature
Dwarfism
Proportionate dwarfism
Short stature, severe

[ more ]

0003510
Wide intermamillary distance
Wide-spaced nipples
Widely spaced nipples
Widely-spaced nipples

[ more ]

0006610
5%-29% of people have these symptoms
Abnormality of the ribs
Rib abnormalities
0000772
Advanced eruption of teeth
Early eruption of teeth
0006288
Broad alveolar ridges
0000187
Capillary hemangioma
Strawberry birthmark
0005306
Dolichocephaly
Long, narrow head
Tall and narrow skull

[ more ]

0000268
Dyspnea
Trouble breathing
0002094
Exaggerated cupid's bow
Cupid bow upper lip
Cupid-bow shaped upper lip
Prominent cupid-bow of upper lip

[ more ]

0002263
Finger syndactyly
0006101
Fingernail dysplasia
Abnormal fingernail development
0100798
Full cheeks
Apple cheeks
Big cheeks
Increased size of cheeks
Large cheeks

[ more ]

0000293
Hemiatrophy
Asymmetric limb shortening
0100556
Hyperconvex fingernails
0001812
Hypoplastic fingernail
Small fingernail
Underdeveloped fingernail

[ more ]

0001804
Inguinal hernia
0000023
Kyphosis
Hunched back
Round back

[ more ]

0002808
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface

[ more ]

0011800
Muscular hypotonia
Low or weak muscle tone
0001252
Naevus flammeus of the eyelid
Port-wine stain on eyelid
0010733
Onychogryposis of fingernail
Overgrowth and curving of fingernail
0040036

Treatment

The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.

Management Guidelines

  • The European Malignant Hyperthermia Group has established guidelines for molecular genetic testing of malignant susceptibility and for in-vitro contracture testing. To read more, click on the link.
  • Orphanet Emergency Guidelines is an article which is expert-authored and peer-reviewed that is intended to guide health care professionals in emergency situations involving this condition.
  • Project OrphanAnesthesia is a project whose aim is to create peer-reviewed, readily accessible guidelines for patients with rare diseases and for the anesthesiologists caring for them. The project is a collaborative effort of the German Society of Anesthesiology and Intensive Care, Orphanet, the European Society of Pediatric Anesthesia, anesthetists and rare disease experts with the aim to contribute to patient safety.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      In-Depth Information

      • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
      • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
      • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.

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