ORPHA:2215
Multiple pterygium-malignant hyperthermia syndrome
historical
Synonyms: Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
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.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple pterygium-malignant hyperthermia syndrome | Froster-Iskenius-Waterson-Hall syndrome · Malignant hyperthermia-arthrogryposis-torticollis syndrome |
| fr | Syndrome des ptérygiums multiples-hyperthermie maligne | Syndrome d'hyperthermie maligne-arthrogrypose-torticolis · Syndrome de Froster-Iskenius-Waterson-Hall |
| de | Multiples Pterygium-maligne Hyperthermie-Syndrom | Froster-Iskenius-Waterson-Hall-Syndrom · Maligne Hyperthermie-Arthrogrypose-Torticollis-Syndrom |
| es | Síndrome de pterigium múltiple-hipertermia maligna | Síndrome de Froster-Iskenius-Waterson-Hall · Síndrome de hipertermia maligna-artrogriposis-tortícolis |
| it | Ipertermia maligna - artrogriposi - torcicollo | Sindrome di Froster-Iskenius -Waterson |
| nl | Meervoudig pterygium - maligne hyperthermie-syndroom | Maligne hyperthermie - artrogrypose - torticollis-syndroom · Syndroom van Froster-Iskenius-Waterson-Hall |
| pt | Síndrome de pterígio múltiplo-hipertermia maligna | Síndrome Froster-Iskenius-Waterson · Síndrome de hipertermia maligna-artrogripose-torcicolo |
| pl | Zespół mnogich płetwistości i hipertermii złośliwej | Zespół Frostera, Iskeniusa i Watersona · Zespół hipertermii złośliwej, artrogrypozy i kręczu szyi |
| cs | Syndrom zahrnující maligní hypertermii, artrogrypózu a torticollis | Froster-Iskeniusové-Watersonův syndrom · Froster-Iskenius-Watersonův syndrom |
| uk | Синдром множинного птеригіуму-злоякісної гіпертермії | Синдром Фростера-Іскеніуса-Уотерсона-Холла · Синдром злоякісної гіпертермії-артрогрипозу-кривошиї |
| zh | 多发性翼状胬肉-恶性高热综合征 | 恶性高热-关节挛缩-斜颈综合征 |
| tr | Çoklu pterjium-habis hipertermi sendromu | Froster-Iskenius-Waterson-Hall sendromu · Habis hipertermi-artrogripozis-tortikollis sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 217150 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| MONDO | 0009012 | E | validated | |
| UMLS | C4304748 | E | validated | |
| GARD | 3361 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:466658Rare disease with malignant hyperthermia
rare neurological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 3346884[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3346884[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
63 annotations · validated 2017-09-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000277 | Abnormality of the mandible | |
| HP:0002804 | Arthrogryposis multiplex congenita | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0005988 | Congenital muscular torticollis | |
| HP:0000324 | Facial asymmetry | |
| HP:0000343 | Long philtrum | |
| HP:0000298 | Mask-like facies | |
| HP:0001840 | Metatarsus adductus | |
| HP:0001357 | Plagiocephaly | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0002650 | Scoliosis | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0000465 | Webbed neck | |
| Frequent (79-30%) | ||
| HP:0012400 | Abnormal aldolase level | |
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0009775 | Amniotic constriction ring | |
| HP:0001166 | Arachnodactyly | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0001611 | Hypernasal speech | |
| HP:0000601 | Hypotelorism | |
| HP:0011302 | Long palm | |
| HP:0002047 | Malignant hyperthermia | |
| HP:0000160 | Narrow mouth | |
| HP:0000767 | Pectus excavatum | |
| HP:0012370 | Prominence of the zygomatic bone | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000508 | Ptosis | |
| HP:0003510 | Severe short stature | |
| HP:0000046 | Small scrotum | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0000772 | Abnormal rib morphology | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000268 | Dolichocephaly | |
| HP:0002094 | Dyspnea | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0006101 | Finger syndactyly | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0000293 | Full cheeks | |
| HP:0100556 | Hemiatrophy | |
| HP:0001812 | Hyperconvex fingernails | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001252 | Hypotonia | |
| HP:0000023 | Inguinal hernia | |
| HP:0002808 | Kyphosis | |
| HP:0011800 | Midface retrusion | |
| HP:0010733 | Naevus flammeus of the eyelid | |
| HP:0040036 | Onychogryposis of fingernail | |
| HP:0001561 | Polyhydramnios | |
| HP:0001557 | Prenatal movement abnormality | |
| HP:0000520 | Proptosis | |
| HP:0008402 | Ridged fingernail | |
| HP:0000340 | Sloping forehead | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2215
- This record as JSON: /data/d/2215.json