Rare Rheumatology News
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.
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
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
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.
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 |
| 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 | |
| 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 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 |
|
Drooping upper eyelid
|
0000508 | |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Severe |
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 |
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 |
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 |
TreatmentThe 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
OrganizationsSupport 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 moreThese 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
Rare Rheumatology News | ||